PEDIATRICS

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PEDIATRICS
Dr. S. Bernstein, Dr. J. Friedman, Dr. R. Hilliard,
Dr. S. Jacobson and Dr. R. Schneider
Karen Dang, Hani Hadi, Ra Han and Anita Jethwa, editors
Eyal Cohen, associate editor
PRIMARY CARE PEDIATRICS . . . . . . . . . . . . . . . . 3
Regular Visits
Nutrition
Colic
Child Injury Prevention
Immunization
Delayed Immunization
Other Vaccines
Developmental Milestones
Normal Physical Growth
Failure to Thrive
Short Stature
Tall Stature
Obesity
CHILD ABUSE AND NEGLECT . . . . . . . . . . . . . . . .12
DEVELOPMENTAL AND BEHAVIORAL . . . . . . .14
PEDIATRICS
Developmental Delay
Language Delay
Prevasive Developmental Disorder (PDD)
Fetal Alcohol Syndrome (FAS) and
Fetal Alcohol Effects (FAE)
Chronic Recurrent Abdominal Pain
Elimination Disorders
Enuresis
Encopresis
GENETICS. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .17
Approach to the Dysmorphic Child
Down Syndrome
Other Trisomies
Turner Syndrome
Klinefelter Syndrome
Fragile X
Muscular Dystrophy
Cleft Lip and Palate
Inborn Errors of Metabolism
Vacterl Association
NEONATOLOGY . . . . . . . . . . . . . . . . . . . . . . . . . . . . 20
Infant Mortality
Normal Baby at Term
Gestational Age and Size
Neonatal Resuscitation
Routine Neonatal Care
Respiratory Distress in the Newborn
Respiratory Distress Syndrome (RDS)
Transient Tachypnea of the Newborn (TTN)
Meconium Aspiration Syndrome (MAS)
Pneumonia
Diaphragmatic Hernia
Persistent Pulmonary Hypertension (PPHN)
Bronchopulmonary Dysplasia (BPD)
Cyanosis of the Newborn
Apnea
Jaundice
Necrotizing Enterocolitis (NEC)
Sudden Infant Death Syndrome (SIDS)
MCCQE 2000 Review Notes and Lecture Series
NEUROLOGY . . . . . . . . . . . . . . . . . . . . . . . . . . . 29
Seizure Disorders
Benign Febrile Seizures
Floppy Baby (Hypotonia)
Cerebral Palsy
Hydrocephalus
Neural Tube Defect
Neurocutaneous Syndromes
GASTROINTESTINAL DISEASE. . . . . . . . . . . 33
Vomiting
Vomiting in the Newborn
Vomiting after the Newborn Period
Acute Diarrhea
Chronic Diarrhea
Chronic Diarrhea without Failure to Thrive
Chronic Diarrhea with Failure to Thrive
Acute Abdominal Pain
Chronic Abdominal Pain
Constipation
Abdominal Mass
Gastrointestinal Hemorrhage
INFECTIOUS DISEASES . . . . . . . . . . . . . . . . . 43
Fever
Sepsis in the Neonate
Meningitis
Pediatric Exanthems
HIV Infection
Periorbital/Orbital Cellulitis
Otitis Media
Streptococcal Infections
Pertussis/Whooping Cough
Infectious Mononucleosis
Urinary Tract Infection
DERMATOLOGY. . . . . . . . . . . . . . . . . . . . . . . . . 51
Diaper Dermatitis
Seborrheic Dermatitis
Candida
Eczema
Impetigo
Scabies
Erythema Multiforme
Stevens-Johnson Syndrome
Pediatric Exanthems
CARDIOLOGY . . . . . . . . . . . . . . . . . . . . . . . . . . 54
Heart Murmurs
Congenital Heart Disease
Congestive Heart Failure
Infective Endocarditis
Dysrhythmias
Pediatrics 1
PEDIATRICS
HEMATOLOGY . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 59
Approach to Anemia
Physiologic Anemia
Iron Deficiency Anemia
Sickle Cell Disease
Spherocytosis
Glucose-6-Phosphate Dehydrogenase Deficiency
Bleeding Disorders
ONCOLOGY . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 63
Leukemia
Lymphoma
Brain Tumours
Wilm’s Tumour (Nephroblastoma)
Neuroblastoma
. . . CONT.
GENITOURINARY . . . . . . . . . . . . . . . . . . . . . . . . . . . 71
Hematuria
Proteinuria
Hemolytic Uremic Syndrome
Nephritic Syndrome
Nephrotic Syndrome
Urinary Tract Obstruction
Vesicoureteral Reflux (VUR)
Genital Abnormalities
RESPIROLOGY . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 74
Upper Respiratory Tract Diseases
Stridor
Croup and Epiglottitis
Foreign Body Aspiration
Lower Respiratory Tract Diseases
RHEUMATOLOGY . . . . . . . . . . . . . . . . . . . . . . . . . . . 65
Wheezing
Evaluation of Limb Pain
Bronchiolitis
Growing Pains
Pneumonia
Juvenile Rheumatoid Arthritis (JRA)
Asthma
Henoch-Schonlein Purpura
Cystic Fibrosis
Kawasaki Disease
ADOLESCENTS . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 78
ENDOCRINOLOGY . . . . . . . . . . . . . . . . . . . . . . . . . . 68 Health Issues
Diabetes Mellitus
Hypothyroidism
Hyperthyroidism
Normal Sexual Development
Precocious Puberty
Delayed Puberty
Pediatrics 2
MCCQE 2000 Review Notes and Lecture Series
PRIMARY CARE PEDIATRICS
Notes
REGULAR VISITS
❏ purpose: prevention, screening, advocacy
❏ usual schedule: newborn, 1 week post-discharge, 1, 2, 4,
6, 9, 12, 15, 18, 24 months
• yearly until age 6, then every other year
• yearly after age 11
❏ history
• pregnancy and neonatal history
• feeding and diet (see Table 1)
• immunizations (see Tables 2 and 3)
• developmental assessment (see Table 4)
• growth, energy, appetite, sleep and review of systems
• past medical history, family and social history, allergies
and medications
❏ physical exam
• growth: serial height, weight, head circumference
• head and neck: dysmorphic features, red reflex, palate,
fontanelles (anterior closes between 9-18 months, posterior
between 2-4 months), strabismus, vision, tympanic membranes, hearing
• cardiovascular: auscultation, peripheral pulses (including
femorals), BP yearly after age 3
• chest, abdominal, GU, skin
• MSK: hips (Barlow and Ortolani tests), scoliosis, lumbosacral
spine (hairy patch, pigmentation, sinus tract)
• neurologic: primitive reflexes in newborns and in early infancy
❏ counselling/anticipatory guidance (see Nutrition, Colic, and Child
Injury Prevention Sections)
• healthy infants should be positioned for sleep on side or back
(decrease incidence of SIDS - see Sudden Infant Death
Syndrome Sections)
NUTRITION
Breast Feeding
❏ colostrum (100 ml) for first few days – clear fluid with nutrients and
immunologic protection for baby
❏ full milk production by 3-7 days (mature milk by 15-45 days)
❏ support for mothers who want to breast feed (e.g. La Leche League,
lactation consultant) should start while in hospital
❏ assessment of adequate intake: weight gain, number of wet diapers,
number of bowel movements, pause during sucking, swallowing
❏ feeding schedule
• premature infants: q 2-3 hours
• term infants: q 3.5-4 hours
❏ breast-fed babies require supplementation with
• vitamin K (given IM at birth)
• vitamin D (Tri-Vi-Sol or Di-Vi-Sol)
• fluoride (after 6 months if not sufficient in water supply)
• iron (premature infants): 8 weeks to 1st birthday
• iron (exclusively breast-fed infants): after 6 months
❏ contraindications
• mother receiving chemotherapy or radioactive compounds
• mother with HIV/AIDS, active untreated TB, herpes (primary or
in breast region)
• mother using alcohol and/or drugs (affects breast milk in 2 ways:
decrease milk production and/or directly toxic to baby)
• mother taking certain medications (most are safe):
e.g. antimetabolites, bromocriptine, chloramphenicol, high dose
diazepam, ergots, gold, metronidazole, tetracycline
Advantages of Breast Feeding
❏ “breast is best"
❏ composition of breastmilk
• energy: 20 kcal/oz.
• carbohydrate: lactose
• protein: whey 80% (more easily digested than casein), casein
20%, essential amino acids (lower content than cow’s milk, lower
renal solute load for developing kidneys)
• fat: cholesterol, triglycerides, essential free fatty acids (up to 50%
energy from fat)
• iron: higher bioavailability (50% of iron is absorbed vs. 10% from
cow's milk), supply for first 6 months
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 3
PRIMARY CARE PEDIATRICS . . . CONT.
Notes
❏ immunologic
• lower allergenicity than cow’s milk (protein)
• IgA, macrophages, active lymphocytes, lysozyme, lactoferrin
(lactoferrin inhibits E.coli growth in intestine)
• lower pH promotes growth of lactobacillus in the GI tract
(protective against pathogenic intestinal bacteria)
❏ bonding
❏ economical
❏ convenient
Complications of Breast Feeding
❏ sore/cracked nipples: try warm compresses, massage, frequent feeds
❏ breast engorgement: continue breast feeding and/or pumping
❏ mastitis (usually due to S. aureus acquired from baby): treat
with cold compresses between feeds, cloxacillin for mother,
continue nursing +/– incision and drainage
❏ breast milk jaundice: 1% of newborns (see Jaundice Section)
❏ poor weight gain: consider dehydration or failure to thrive
❏ thrush: check baby’s mouth for white cheesy material; treat with antifungal
Alternatives to Breast Feeding
❏ formulae: 100-120 kcal/kg/day = 150-180 cc/kg/day (minimum)
• cows based formulae, e.g. SMA, Similac, Enfalac with iron
• soya protein based formulae e.g. Isomil, Prosobee with iron
• iron fortified formula recommended
• use one formula consistently
❏ special formulae: for protein hypersensitivity, lactose intolerance,
galactosemia, PKU, other malabsorption syndromes (all rare)
❏ cow's milk
• should not be used under 9 months of age because of high renal
solute load, poor iron absorption and inappropriate energy distribution
• homo milk starting 9-12 months until 24 months, then 2% or skim milk
❏ vegan diet is not recommended in first 2 years
Table 1. Dietary Schedule
Age
Food
Comments
0 to 4 months
breast milk, formula
can be used exclusively until 6 months of age
4 to 6 months
iron enriched cereals
rice cereals first because less allergenic
4 to 7 months
pureed vegetables
yellow/orange vegetables first and green last (more bulk)
avoid vegetables with high nitrite content (beets, spinach, turnips)
introduce vegetables before fruit
6 to 9 months
pureed fruits and juices
pureed meats, fish, poulty,
egg yolk
avoid desserts
no egg white until 12 months (risk of allergy)
9 to 12 months
finger foods, peeled fruit, cheese
and cooked vegetables
NO peanuts or raw, hard vegetables till age 3 to 4 years
no added sugar, salt, fat or seasonings
COLIC
❏ rule of 3’s: unexplained paroxysms of irritability and crying for
❏
❏
❏
❏
❏
❏
> 3 hours/day and > 3 days/week for > 3 weeks in an otherwise healthy,
well-fed baby
occurs in 1:5 babies
etiology: generally regarded as a lag in the development of normal
peristaltic movement in GI tract
other reasons why babies cry: hunger or gas pains, too hot or cold,
overstimulated, need to suck or be held
timing: onset 10 days to 3 months of age; peak 6-8 weeks
average 40-120 minutes/day for first 3 months
child cries, pulls up legs and passes gas soon after feeding
Pediatrics 4
MCCQE 2000 Review Notes and Lecture Series
PRIMARY CARE PEDIATRICS . . . CONT.
Notes
❏ suggestions for management
•
•
•
•
parental relief, rest and reassurance (it is not their fault!)
hold baby, soother, car ride, music, vacuum, check diaper
drugs (ovol drops, ancatropine) are of little benefit
elimination of cow milk protein from mother's diet (effective in
small percentage of cases)
CHILD INJURY PREVENTION
Injuries
❏ not accidents - predictable and preventable
❏ leading cause of death from 1-44 years of age
❏ leading cause of potential years of life lost
❏ main causes of injury: motor vehicle, burns, drowning, suicide, falls
Newborn to 6 Months
❏ falls: do not leave infant alone on a bed, change table, in a bath; place
in crib or playpen before answering phone or door; keep crib rails up
❏ burns: check water temperature before bathing, check milk temperature
before feeding, do not hold cup of hot liquid and infant at same time
❏ sun exposure
❏ car seats, smoke and carbon monoxide detectors
❏ Poison Control Centre number next to telephone
6 to 12 Months
stair barriers, discourage walkers
plastic covers for electrical outlets, appliances unplugged when not in use
keep small objects, plastic bags, and medications out of reach
avoid play areas with sharp-edged tables and corners
never leave unsupervised in tub
❏
❏
❏
❏
❏
1 to 2 Years
❏ burns: turn pot handles to back of stove
❏ poisoning: keep drugs and cleaning products out of reach, Poison
Control Centre number next to telephone, ipecac syrup in house
❏ choking: no nuts, raw carrots, orange segments, hot dogs, running while eating
❏ toddler seat at 20 lbs, fence around swimming pool
❏ watch for unsafe toys, balloons and plastic bags
2 to 5 Years
❏ street safety, bicycle helmet, seat belt and booster seat at 40 lbs
❏ stranger safety
❏ swimming lessons
❏ never leave child unsupervised at home, on driveway, in pool
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 5
PRIMARY CARE PEDIATRICS . . . CONT.
Notes
IMMUNIZATION
Table 2. Immunization Schedule
Age
Vaccination
Route
Type
Contraindications
2 months
DTaP+IPV+Hib
IM
diptheria - toxoid
pertussis - killed bacteria
tetanus - toxoid
polio - inactivated virus
Hib - conjugated to diphtheria
previous anaphylaxis to vaccine;
defer if progressive, evolving,
unstable neurologic disease
4 months
DTaP+IPV+Hib
IM
6 months
DTaP+IPV+Hib
IM
12 months
MMR
SC
18 months
DTaP+IPV+Hib
IM
4-6 years
MMR
DTaP+IPV
SC
IM
grade 7
(in Ontario)
Hepatitis
B vaccine
in 3 doses
IM
14-16 years
and q 10 years
thereafter
TdP
IM
live attenuated viruses
relative contraindication if
child becomes hypotonic or
hyporesponsive after vaccine
immunocompromise (but healthy
HIV positive children should
receive MMR vaccine);
within 3 months of
immunosuppressive therapy;
pregnancy
no Hib after age 7
purified HBsAg
immunodeficiency; pregnancy
Administration of Vaccines
❏ injection site
• infants (<12 months old): anterolateral thigh
• children: deltoid
❏ DTaP+IPV+Hib: these five vaccines are given as one IM injection (Pentacel)
❏ oral polio vaccine is available and used in some provinces, but not in Ontario
Contraindications to Any Vaccine
❏ moderate to severe illness +/– fever
❏ allergy to vaccine component (e.g. egg)
Possible Adverse Reactions to Any Vaccine
❏ local: induration or tenderness
❏ systemic: fever, rash
❏ allergic: urticaria, rhinitis, anaphylaxis
Possible Adverse Reactions to Regular Vaccines
❏ DTaP+IPV
• minor: fever, local redness, swelling, irritability
• major: prolonged crying (1%), hypotonic unresponsive state
(1:1750), seizure (1:1950)
• prophylaxis: acetaminophen 10-15 mg/kg 4 hours prior to
injection and q4h afterwards
❏ Hib
• safe; almost no reaction
❏ MMR
• fever, measle-like rash in 7-14 days, lymphadenopathy,
arthralgia, arthritis, parotitis
❏ TdP
• anaphylaxis
TB Skin Test (Mantoux)
❏ screen high risk populations only (HIV, from foreign country with
increased incidence, substance abuse in family, homeless, aboriginal)
❏ evidence against screening healthy populations
Pediatrics 6
MCCQE 2000 Review Notes and Lecture Series
PRIMARY CARE PEDIATRICS . . . CONT.
Notes
❏ intradermal injection (do not administer with MMR vaccine)
❏ positive result (TB-positive)
• > 15 mm: children > 4 years with no risk factors
• > 10 mm: children < 4 years, environmental exposure
• > 5 mm: children with close TB contact, immunosuppressed
❏ BCG history irrelevant - does not usually give positive response
❏ positive reaction means active disease or previous contact
DELAYED IMMUNIZATION
Table 3. Delayed Immunization Schedule
Unimmunized Children Aged 1-6 Years
Visit
Vaccine
Notes
initial visit
2 months after first visit
2 months after second visit
12 months after third visit
4-6 years old
grade 7
14-16 years old
DTaP + Hib, MMR
DTaP
DTaP
DTaP
DTaP, MMR
Hepatitis B (0,1,6 months)
TdP
no pertussis after age 7
in Ontario
Unimmunized Children Aged 7 years and Over
Visit
Vaccine
Notes
initial visit
2 months after first visit
6-12 months after second visit
q 10 years thereafter
TdP, MMR
TdP
TdP
Td
no polio
OTHER VACCINES
BCG vaccine
❏ infants of parents with infectious TB at time of delivery
❏ groups/communities with high rates of disease/infection
❏ offered to aboriginal children on reserves
Pneumovax
❏ protects against 23 serotypes of S. pneumoniae
❏ for children with HIV or splenectomized children; e.g. sickle cell
disease, splenic dysfunction, thalassemia
❏ for these high risk groups, give vaccine at 2 years of age, then
revaccinate 3-5 years after initial dose
Influenza A
❏ given annually in the fall since strains vary from year to year
❏ for children with severe or chronic disease, e.g. cardiac, pulmonary, or
renal diseases, sickle cell disease, diabetes, endocrine disorders, HIV,
immunosuppressed, long-term aspirin therapy, residents of chronic
care facilities
❏ contraindicated if allergic to eggs or < 6 months of age
Hepatitis B
❏ now recommended routinely in Canada
❏ set of 3 vaccinations given in mid-childhood to early teens (0, 1, 6 months)
❏ given in Grade 7 in Ontario schools (given at different grades in other provinces)
❏ if mother is HBsAg +ve, then give HBIG + vaccine at birth, and vaccine
at 1 and 6 months
Varivax
❏ live attenuated varicella virus vaccine protects against chicken pox
❏ must be stored at -15ºC
❏ can be given after age 12 months (1 dose = 0.5 ml subcutaneous injection)
❏ after age 13, give two doses 4-8 weeks apart
❏ seroconversion rates of > 95% (20-30% yearly loss of antibody over 6 years);
likely lifelong immunity, but longer studies are as yet unavailable
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 7
PRIMARY CARE PEDIATRICS . . . CONT.
Notes
❏ mild local reactions in 5-10% (higher in immunocompromised)
❏ efficacy: protection rate is > 90%
❏ benefits
• avoid chicken pox (5-7 days of fever, itchy rash, malaise,
possible bacterial superinfection, encephalitis or pneumonia)
(see Colour Atlas J1)
• milder illness if chicken pox does develop
• avoid parental cost of being off work or hiring babysitter
❏ costs $65-75, currently not covered by many drug plans
❏ contraindicated in pregnant women and in women planning to get pregnant in the next 3 months
DEVELOPMENTAL MILESTONES
Table 4. Developmental Milestones
Age
Gross Motor
6 weeks
prone-lifts chin
intermittently
prone-arms
extended forward
prone-raises head
+ chest, rolls over
F —> B, no head lag
prone-weight on
hands, tripod sit
2 months
4 months
6 months
Fine Motor
Speech and
Language
social smile
pulls at clothes
coos
reach and grasp,
objects to mouth
responds to
voice
ulnar grasp
begins to babble,
responds to name
stranger anxiety
plays games
separation anxiety
uses spoon,
points to body
parts
parallel play,
helps to dress
9 months
pulls to stand
finger-thumb grasp
12 months
walks with support,
“cruises”
pincer grasp, throws
15 months
walks without support
draws a line
mama, dada appropriate,
imitates 1 word
2 words with
meaning besides
mama, dada
jargon
18 months
up steps with help
tower of 3 cubes,
scribbling
10 words, follows
simple commands
24 months
up 2 feet/step,
runs, kicks ball
tower of 6 cubes,
undresses
2-3 words phrases
uses “I”, “Me”, “you”
25% intelligible
3 years
tricycle, up 1 foot/step,
down 2 feet/step,
stands on one foot,
jumps
hops on 1 foot,
down 1 foot/step
copies a circle and
a cross, puts on shoes
skips,
rides bicycle
copies a triangle,
prints name,
ties shoelaces
prepositions,
plurals,
75% intelligible,
knows sex, age
tells story,
normal dysfluency,
speech intelligible
fluent speech,
future tense,
alphabet
4 years
5 years
Adaptive and
Social Skills
copies a square,
uses scissors
plays peek-a-boo,
drinks with cup
points to needs
dress/undress
fully except
buttons,
counts to 10
cooperative play,
toilet trained,
buttons clothes
knows 4 colours
Table 5. Primitive Reflexes
Reflex
Appears
Disappears
grasp
birth
1-4 months
Moro
birth
3-4 months
rooting/sucking
birth
3-4 months
stepping/placing
birth
2-5 months
Galant
birth
2-3 months
tonic neck (“fencing”)
birth
2-3 months
Pediatrics 8
MCCQE 2000 Review Notes and Lecture Series
PRIMARY CARE PEDIATRICS . . . CONT.
Notes
Moro Reflex
❏ elicited by placing infant supine, head supported by examiner’s hand,
sudden withdrawal of support, head allowed to fall backward
❏ reflex is abduction and extension of the arms, opening of the hands,
followed by adduction of the arms as if in an embrace
❏ absence of Moro suggests CNS injury
❏ asymmetry of Moro suggests focal motor lesions, e.g. brachial
plexus injury or fracture of clavicle or humerus
Galant’s Reflex
❏ stroking one side of the back along paravertebral line results
in lateral curvature of the trunk toward the stimulated side
NORMAL PHYSICAL GROWTH
❏ newborn size influenced by maternal factors (placenta, in utero
environment)
❏ premature infants: use corrected age until 2 years
❏ not linear: most rapid growth during first two years; growth spurt at puberty
❏ different tissue growth at different times
• first two years: CNS
• mid-childhood: lymphoid tissue
• puberty: genital tissues
❏ body proportions: upper/lower segment ratio
• newborn 1.7; adult male 0.97; female 1.0
• increased ratio: achondroplasia, short limbs, hypothyroidism
• decreased ratio: Marfan Syndrome
Weight Gain
❏ birth weight: 3-4.5 kg
❏ some weight loss after birth (maximum 10%); birthweight regained by 10 days
❏ 2x birth weight by 4-5 months; 3x birth weight by 1 year; 4x birth weight by 2 years
❏ half adult weight at 10 years
Linear Growth
❏ birth length: 50 cm
❏ 75 cm at 1 year, 87 cm at 2 years (half adult height); 93 cm at 3 years
❏ measure length until 2 years of age, then measure height
Head Circumference
❏ birth HC: 35 cm
❏ increase 2 cm/month for first 3 months, then 1 cm/month for
3-6 months, then 0.5 cm/month for 6-12 months
Dentition
❏ primary dentition (20 teeth)
• first tooth at 5-9 months (lower incisor), then 1 per month to 20 teeth
• 6-8 central teeth by 1 year
❏ secondary dentition (32 teeth)
• first adult tooth is 1st molar at 6 years
• 2nd molars at 12 years, 3rd molars at 18 years
FAILURE TO THRIVE (FTT)
❏ definition: weight < 3rd percentile, or falls across two major percentile
curves, or < 80% of expected weight for height and age
❏ 50% organic, 50% non-organic
❏ inadequate caloric intake most important factor in poor weight gain
❏ energy requirements
• 0-10 kg: 100 kcal/kg/day
• 10-20 kg: 1000 cal + 50 cal/kg/day for each kg > 10
• 20 kg+: 1500 cal + 20 cal/kg/day for each kg > 20
❏ may have other nutritional deficiencies, e.g. protein, iron, vitamin D deficiency
Approach to a Child with FTT
❏ history
• detailed dietary and feeding history
• pregnancy, birth, and postpartum history
• developmental and medical history, including medications
• social and family history (parental height and weight)
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 9
PRIMARY CARE PEDIATRICS . . . CONT.
❏
❏
❏
❏
Notes
• assess 4 areas of functioning: child’s temperament, child-parent
interaction, feeding behaviour and parental psychosocial stressors
physical examination
• height, weight, HC, arm span, upper:lower segment ratio
• assessment of nutritional status, dysmorphism, pubertal status
• observation of a feeding session and parent-child interaction
• signs of neglect or abuse
laboratory investigations: as indicated by clinical presentation
• CBC, smear, electrolytes, urea, ESR, T4, TSH, urinalysis
• bone age x-ray
• karyotype in all short girls and in short boys where appropriate
• any other tests indicated from history and physical exam: e.g.
renal or liver function tests, venous blood gases, ferritin,
immunoglobulins, sweat chloride, fecal fat
organic cause: usually apparent on full history and physical exam
non-organic cause: often no obvious diagnosis from history and
physical exam
Causes of Organic FTT
❏ inadequate intake
❏ inadequate absorption
❏ inappropriate utilization of nutrients
❏ increased energy requirements
❏ decreased growth potential
Causes of Non-Organic FTT
❏ inadequate nutrition, poor feeding technique, errors in making formula
❏ emotional deprivation, poor parent-child interaction, dysfunctional home
❏ child abuse and/or neglect
❏ parental psychosocial stress, childhood abuse and/or neglect
❏ treatment: most are managed as outpatients with multidisciplinary approach
• primary care physician, dietitian, psychologist, social work, child
protection services
SHORT STATURE
Assessment of Short Stature
❏ height << 3rd percentile, height crosses 2 major percentile lines, low
growth velocity (< 25th percentile)
❏ history: perinatal history, growth pattern, medical history, parental
height and age of pubertal growth spurt
❏ physical exam: growth velocity (over 6 month period), sexual
development (see Failure to Thrive Section)
❏ calculate Mid-Parental Height (predicted adult height) +/– 8 cm for 2 SD range
• boy = [ father height (cm) + mother height (cm) + 13 cm]/2
• girl = [ father height (cm) + mother height (cm) – 13 cm]/2
❏ true growth hormone deficiency is rare; associated with other
congenital anomalies (midline defects, vocal abnormalities,
micropenis, height affected more than weight)
Pediatrics 10
MCCQE 2000 Review Notes and Lecture Series
PRIMARY CARE PEDIATRICS . . . CONT.
Notes
Table 6. Short Stature
NORMAL GROWTH VELOCITY
(non-pathological short stature)
DECREASED GROWTH VELOCITY
(pathological short stature)
❏ constitutional (delayed bone age); delayed
adolescence and may have family history
of delayed puberty, may require treatment
with androgen/estrogen short-term
❏ primordial (height, weight, and HC are affected)
- chromosomal (e.g. Turner, Down syndrome, dysmorphic features)
- skeletal dysplasias
- IUGR (teratogen, placenta, infection)
❏ familial (normal bone age)
(no treatment helpful)
❏ endocrine (height more affected than weight)
- “short and fat”
- growth hormone deficiency
- hypothyroidism
- Cushing’s syndrome
- hypopituitarism
❏ chronic disease (weight more affected than height)
- “short and skinny”
- Celiac disease, IBD, CF
- chronic infections
- chronic renal failure (often height more affected)
❏ psychosocial neglect (psychosocial dwarfism)
- usually decreased height and weight (and HC if severe)
Investigations
❏ bone age x-ray
❏ karyotype in girls to rule out Turner syndrome
❏ other tests as indicated by history and physical
Management
❏ no treatment for the short normal child
❏ criteria for growth hormone (GH) therapy:
• GH has been shown to be deficient by physiological and
pharmacological tests (2 required)
• patient is short (below 3rd percentile) and not growing
• x-rays show that there is still growth potential, with low
growth velocity
• no etiological factor found that can be fixed
• signs and symptoms of GH deficiency - e.g. infantile features
and fat distribution, hypoglycemia, prolonged
hyperbilirubinemia in the newborn period, delayed puberty
❏ other endocrine abnormalities that are contributing to short stature
should be corrected (e.g. thyroid hormone for hypothyroidism, insulin
for diabetes)
TALL STATURE
❏ also constitutional and familial variants
❏ assessment
• history and physical examination: differentiate familial from
other causes
• calculate Mid-Parental Height (predicted adult height)
• look for associated abnormalities (e.g. hyperextensible joints in
Marfan syndrome)
❏ etiology
• constitutional: most common, advanced bone age/physical
development in childhood but normal once adulthood reached
• endocrine: e.g. hypophyseal (pituitary) gigantism, precocious
puberty, thyrotoxicosis, Beckwith-Wiedeman syndrome
• genetic: e.g. Marfan, Klinefelter syndromes
❏ treatment: depends on etiology
• estrogen used in females to cause epiphyseal fusion
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 11
PRIMARY CARE PEDIATRICS . . . CONT.
Notes
OBESITY
❏ weight > 20% greater than expected for age and height
❏ history: diet, activity, family heights and weights, growth curves
❏ physical examination: may suggest secondary cause, e.g. Cushing's syndrome
• caliper determination of fat is more sensitive than weight
❏ organic causes are rare (< 5%)
• genetic, e.g. Prader-Willi, Carpenter, Turner syndrome
• endocrine, e.g. Cushing's, hypothyroidism
❏ complications
• low correlation between obese children and obese adults
• some association with: hypertension, increased LDL, increased
acute respiratory infection, slipped capital femoral epiphysis
• may predispose to adult hypertension, diabetes, cardiovascular
disease
• boys: gynecomastia
• girls: polycystic ovarian disease, early menarche
• psychological: discrimination, teasing, isolation, decreased
self-esteem, treated as stupid or inferior
❏ management
• encouragement and reassurance
• diet: qualitative changes; do not encourage weight loss but
allow for linear growth to catch up with weight
• evidence against very low kilojoule diets for preadolescents
• behavior modification: increase activity, change meal patterns
• insufficient evidence for or against exercise, family programs for
obese children
• education: multidisciplinary approach, dietitian, counselling
CHILD ABUSE AND NEGLECT
Definition
❏ an intentional act of commission or omission (physical, sexual, or
emotional) by another person that harms a child in a significant way
Legal Obligation to Report
❏ upon suspicion of abuse, physicians in Canada are required by law to
call the Children's Aid Society (CAS)
Risk Factors
❏ family factors
• social isolation
• poverty
• stressful life events or situation
• domestic violence
❏ caregiver factors
• parents were abused as children (most commonly associated)
• psychological dysfunction / psychiatric illness
• substance abuse
• parenting style
• poor social and vocational skills, below average intelligence
❏ child factors
• difficult child (temperament)
• handicap or disability
• special needs, e.g. mental retardation
Physical Abuse
❏ history inconsistent with physical findings
❏ “doctor shopping”, multiple visits to different hospitals
❏ delay in seeking medical attention
❏ injuries of varied ages, recurrent or multiple injuries
❏ distinctive marks: e.g. belt buckle, cigarette burns, hand
❏ atypical patterns of injuries: face, abdomen, buttocks, inner thighs,
upper back, symmetrical pattern
❏ altered mental status: head injury, drug ingestion, poisoning
Pediatrics 12
MCCQE 2000 Review Notes and Lecture Series
CHILD ABUSE AND NEGLECT . . . CONT.
Notes
❏ shaken baby syndrome
• most common cause of severe closed head injury in infants
< 1 year old
• violent shaking of infant resulting in intracranial hematomas and
retinal hemorrhages
• diagnosis confirmed by CT or MRI
• poor prognosis for infants presenting in coma: 50% die, 25% have
significant neurologic damage
Sexual Abuse
❏ prevalence: 1 in 4 females, 1 in 10 males
❏ peak ages at 2-6 and 12-16 years
❏ most perpetrators are known to child
• most common: father, stepfather, uncle
❏ diagnosis usually depends on child telling someone
❏ clinical signs
• specific or generalized fears, depression
• social withdrawal, lack of trust
• psychosomatic symptoms, school failure
• sexual preoccupation, play
• behavior: seductive, acting out, aggressive, pseudomature
• recurrent UTIs, pregnancy, STDs, vaginitis, vaginal bleeding,
genital injury
❏ investigations depend on presentation, age, sex, and maturity of child
• up to 72 hours: rape kit
• R/O STD, UTI, pregnancy (consider STD prophylaxis or
morning after pill)
• R/O other injuries
Neglect
❏ failure to thrive, developmental delay
❏ inadequate or dirty clothing, chronic lack of
personal hygiene
❏ child exhibits poor attachment to parents
Management of Child Abuse and Neglect
❏ history: from child and caregiver(s)
❏ physical exam: head to toe (do not force), emotional state,
development
❏ document all injuries: type, location, size, shape, colour, pattern
❏ report all suspicions to CAS and/or police
❏ acute medical care; hospitalize if indicated or if concerns about further
or ongoing abuse
❏ investigations: bloodwork, throat and/or genital swabs, skeletal survey,
bone scan, CT/MRI, photos
❏ arrange consultation to social work, psychiatry
❏ arrange appropriate follow-up
❏ D/C directly to CAS or to responsible guardian
under CAS supervision
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 13
DEVELOPMENTAL AND
BEHAVIORAL PEDIATRICS
Notes
DEVELOPMENTAL DELAY
Differential Diagnosis
❏ chromosomal: Down syndrome, trisomy 13, trisomy 18
❏ metabolic: Tay-Sachs, PKU, adrenoleukodystrophies
❏ cerebral degenerative: Huntington's chorea, SSPE
❏ prenatal infection: TORCHS, HIV
❏ postnatal infection: meningitis, encephalitis, HIV
❏ toxic agents/drugs: alcohol, street drugs
❏ trauma/hypoxia: birth trauma, intracerebral hemorrhage
❏ other syndromes: cerebral malformations, neurofibromatosis, autism
❏ sensory defects: vision, hearing
LANGUAGE DELAY
Differential Diagnosis
❏ hearing impairment
• not responsive to sounds out of sight
• prelinguistic skills (e.g. cooing, babbling) may initially
develop normally but may decrease due to lack of feedback
• no impairment in social interaction
• causes
• genetic (30-50%)
• congenital infection (e.g. rubella, CMV)
• meningitis
• ototoxic medications (e.g. aminoglycosides)
❏ cognitive disability
• global developmental delay, mental retardation
• both receptive and expressive language components affected
• child often has interest in communication
❏ pervasive developmental disorder (including autism)
• poor social interaction and language impairment, especially expressive
(see Pervasive Developmental Disorder Section)
❏ selective mutism
• only speaks in certain situations, usually at home
• usually starts at age 5-6 years when child goes to school
• healthy children with no hearing impairment
• often above average intelligence
❏ Landau-Kleffner syndrome (acquired epileptic aphasia)
• presents in late preschool to early school age years
• child begins to develop language normally, then sudden
regression of language
• child has severe aphasia with EEG changes
• often has overt seizure activity
• initial presentation may be similar to autism
❏ mechanical problems
• cleft palate
• cranial nerve palsy
❏ social deprivation
PERVASIVE DEVELOPMENTAL DISORDER (PDD)
❏ broad generic term which describes a spectrum of related disorders,
including autism, Asperger’s syndrome, child disintegrative disorder,
and PDD not otherwise specified
❏ autism
• prevalence M:F = 4:1
• risk in sibling 8-9%
• onset prior to 3 years of age
❏ Asperger’s syndrome
• prevalence M>F
• impaired social interaction
• language and cognition better than in autism
• restricted, repetitive, stereotyped patterns of behaviour,
interests and activities
• better prognosis than in autism
❏ 4 main areas of functioning affected
Pediatrics 14
MCCQE 2000 Review Notes and Lecture Series
DEVELOPMENTAL AND
BEHAVIORAL PEDIATRICS . . . CONT.
Notes
❏ 1) lack of reciprocal social interaction
• lack of interest in peers and poor group participation
• higher functioning individuals with PDD lack depth in their
interactions with people: inflexibility, lack of reciprocity and
empathy
❏ 2) problems with verbal and non-verbal communication
• delay in onset of expressive and receptive language
• characteristics of autism: echolalia, perseveration,
abnormalities in volume, pitch and rate of speech
❏ 3) restricted and repetitive behaviours
• stereotypic: hand-flapping, head-banging, rocking, repetitive
finger movements, spinning, etc.
• ritualistic: checking, touching
❏ 4) abnormal cognitive function
• majority exhibit mental retardation
• may have good memory and visuospatial function
• poor symbolization and understanding of abstract ideas and
theoretical concepts
• higher functioning PDD children may have consuming interest in
one topic to the exclusion of other topics
FETAL ALCOHOL SYNDROME (FAS) AND
FETAL ALCOHOL EFFECTS (FAE)
❏ prevalence
• FAS: 1 in 500-600
• FAE: 1 in 300-350
❏ not known how much alcohol is harmful during pregnancy
❏ no "safe" level of alcohol consumption during pregnancy
Criteria for Diagnosis of Fetal Alcohol Syndrome
❏ A: Growth deficiency
• low weight and/or short length at birth that continues through childhood
❏ B: Abnormal craniofacial features
• small head, small eyes, long smooth philtrum, thin upper lip,
maxillary hypoplasia
❏ C: Central nervous system dysfunction
• microcephaly and/or neurobehavioral dysfunction
(e.g. hyperactivity, motor problems, attention deficits, learning
disabilities, cognitive disabilities)
❏ D: Strong evidence of maternal drinking during pregnancy
Fetal Alcohol Effects
❏ child born to a mother who was known to be drinking heavily during pregnancy
❏ child has some but not all of physical characteristics of FAS
CHRONIC RECURRENT ABDOMINAL PAIN
❏ prevalence: 10% of school children
• common in early childhood and early adolescence
❏ < 10% have organic disease
❏ characteristics of psychogenic abdominal pain
• seldom wakes child
• poorly localized, periumbilical, constant
• aggravated by exercise, alleviated by rest
• school avoidance
• psychosocial factors related to onset and/or maintenance of pain
• absence of organic illness
❏ psychiatric comorbidity: anxiety, somatoform, mood, learning
disorders, sexual abuse, eating disorders, elimination disorders
❏ assessment: interview child alone and with parents, R/O organic illness
❏ management
• identify psychosocial stressors
• individual and family psychotherapy
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 15
DEVELOPMENTAL AND
BEHAVIORAL PEDIATRICS . . . CONT.
Notes
ELIMINATION DISORDERS
ENURESIS
❏ involuntary urinary incontinence by day and/or night in a child
> 5 years old
❏ not due to neurological disorder resulting in poor bladder control,
epilepsy, or structural abnormality of the urinary tract
❏ prevalence: 10% of 6 year olds, 3% of 12 year olds, 1% of 18 year olds
Primary Nocturnal Enuresis (90%)
❏ wet only at night during sleep
❏ developmental disorder or maturational lag in bladder control while asleep
❏ more common in boys, family history common
❏ investigations: urinalysis
❏ treatment
• time and reassurance (~20% resolve spontaneously each year)
• bladder retention exercises
• conditioning: "wet" alarm wakes child upon voiding (40-75% success rate)
• medications: DDAVP
Secondary Enuresis
❏ develops after child has sustained (3 months or more) period of
bladder control
❏ nonspecific regression in the face of stress or anxiety, e.g. birth of
sibling, significant loss, family discord
❏ may be secondary to UTI, DM, DI, neurogenic bladder, CP, sickle cell
disease, seizures, pinworms
❏ may occur if engrossed in other activities
Diurnal Enuresis
❏ daytime wetting (60-80% also wet at night)
❏ timid, shy, temperamental problems
❏ R/O structural anomaly, e.g. ectopic ureteral site, neurogenic bladder
❏ treatment depends on cause
• remind child to go to toilet
• mental health treatment
• focus on verbal expression of feelings
ENCOPRESIS
❏
❏
❏
❏
fecal incontinence in a child at least 4 years of age
prevalence: 1-1.5% of school aged children (rare in adolescence)
M:F = 6:1
must exclude medical causes, e.g. Hirschsprung’s disease,
hypothyroidism, hypercalcemia, spinal cord lesions, anorectal malformations
Retentive Encopresis (psychogenic megacolon)
❏ causes
• physical: anal fissure (painful stooling)
• emotional: disturbed parent-child relationship, coercive toilet
training
• genetic: 75% have enuretic relative, MZ > DZ twins
❏ history
• child withholds bowel movement, develops constipation,
leading to fecal impaction and seepage of soft or liquid stool
• crosses legs to resist urge to defecate
• distressed by symptoms, soiling of clothes
• toilet training: coercive or lackadaisical
❏ physical exam
• rectal exam: large fecal masses in rectal vault
❏ treatment
• clean out bowel completely (e.g. Golytely, fleet enemas)
• stool softeners (e.g. Senokot, Lansoyl at bedtime)
• enemas and suppositories
• regular schedule to defecate
• positive reinforcement
Pediatrics 16
MCCQE 2000 Review Notes and Lecture Series
DEVELOPMENTAL AND
BEHAVIORAL PEDIATRICS . . . CONT.
Notes
Non-Retentive Encopresis
❏ continuous: present from birth (never gained primary control of bowel function)
• bowel movement randomly deposited without regard to social norms
• family structure usually does not encourage organization and
skill training
• child has not had adequate consistent bowel training
• treatment: consistent, firm and kind toilet training
❏ discontinuous: previous history of normal bowel control
• bowel movements as an expression of anger or wish to be seen
as a younger child
• breakdown occurs in face of stressful event, regression
• displays relative indifference to symptoms
• treatment: psychotherapy if persists for many weeks
Toilet Phobia
❏ relatively young child
❏ views toilet as a frightening structure
❏ child thinks they may be swept away by toilet
❏ treatment
• gradual series of steps with rewards
• desensitization
GENETICS
APPROACH TO THE DYSMORPHIC CHILD
❏ 3/100 infants are born with a congenital defect, many are associated
with a degree of developmental disability
❏ genetic disorders and birth defects account for approximately 40% of
childhood deaths
❏ history
• prenatal/obstetrical history: maternal age and past health,
alcohol/drug/meds use, difficulties during pregnancy/labour/delivery,
investigations done and results (see Obstetrics Notes)
• complete 3 generation family pedigree: consanguinity, stillbirths,
neonatal deaths, specific illnesses, mental retardation,
multiple miscarriages, ethnicity (thalassemia, Tay-Sachs)
• developmental milestones and growth in an older child
❏ physical examination
• careful observation
• growth parameters (height/weight/head circumference)
• compare child's features with parents and sibs
❏ investigation
• ask for serial photographs if child is older
• x-rays if bony abnormalities or if suspect a congenital infection
• cytogenetic/chromosome studies +/– skin fibroblasts
• biochemistry: specific enzyme assays
• molecular biology for specific testing
• genetic probes now available e.g. Fragile X
❏ counselling and recurrence risk assessment
Patterns of Inheritance
❏ autosomal dominant
• 50% risk with an affected parent
• e.g. Neurofibromatosis I and II, Marfan syndrome, Achondroplasia
❏ autosomal recessive
• risk is 25% when both parents carry the affected gene
• carrier states can sometimes be detected; consanguinity increases chance
• e.g. sickle cell anemia, CF, Tay-Sachs
❏ X-linked recessive
• gene for the disease carried on X chromosome, inherited
through mother; most are recessive with homozygous females being rare
• female carriers may sometimes be detected, e.g. G6PD deficiency
• cannot have male to male transmission
• e.g. Duchenne MD, Fragile X, G6PD, Hemophilia A and B
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 17
Notes
GENETICS . . . CONT.
❏ multifactorial
• genetic predisposition with environmental factors required for
disease to be expressed
• recurrence risk 4-10% (disease specific) ; if mother and one
child affected, risk is up to 15%
• e.g. neural tube defects, cleft lip and palate
❏ mitochondrial
• genes from mother only; M=F
• e.g. Leber optic neuropathy, MELAS
❏ spontaneous mutations
DOWN SYNDROME
❏ in humans, the most common abnormality of autosomal chromosomes
❏ trisomy 21
❏
❏
❏
❏
❏
• 80-90% nondisjunction
• 5% translocations
• 3% mosaics (may be less noticeable/less severe)
incidence: most common autosomal chromosomal abnormality,
1 in 600-800 live births, rises with advanced maternal age to
1 in 20 by age 45 years
affected fetuses have increased risk of spontaneous abortion
clinical features
• hypotonia at birth (80%), low IQ, developmental delay
• neurologic: hypotonia, premature senility, Alzheimer’s onset in 40’s
• facies: flat occiput, microcephaly, small midface, small mandible
and maxillae, upslanting palpebral fissures, epicanthal folds,
Brushfield's spots in iris
• ENT: furrowed prominent tongue, high arched palate, ear anomalies,
frequent acute otitis media
• CVS: 40% have congenital cardiac defects, particularly
endocardial cushion defects
• GI: duodenal, anal atresia and TE fistula
• MSK: lax joints including dysplastic hips, vertebral anomalies,
atlantoaxial instability
• skin: Simian (palmar) crease, abnormal dermatoglyphics
• hematologic: leukemias (1% lifetime risk)
• endocrine: hypothyroidism
prognosis: shorter life expectancy
management
• recommended testing: echo, thyroid tests, atlanto-occipital
x-ray at 2 years (controversial)
• treat any life-threatening defects immediately
(e.g. duodenal atresia)
• mainly symptomatic
• wide range of severity, early intervention programs to help
children reach full potential
OTHER TRISOMIES
Trisomy 13
❏ incidence 1:5000 live births
❏ increased risk of spontaneous abortions
❏ features: seizures, deafness, microcephaly, cleft lip/palate,
polydactyly, retinal anomalies, single umbilical artery, cardiac
defects, scalp defects
❏ midline anomalies: scalp, pituitary, palate, heart, umbilicus, anus
❏ prognosis: 44% die in 1 month
< 10% survive past 1 year (profound MR in survivors)
Trisomy 18
❏ incidence: 1/8000 live births, female: male = 3:1
❏ increased risk of spontaneous abortion
❏ features: prominent occiput, micrognathia, ocular abnormalities, cleft
lip and palate, low set ears, rocker bottom feet, short stature, clenched
fist with overlapping digits, hypoplastic nails, clinodactyly, polydactyly,
cardiac defects, hernia, severe CNS malformation, urogenital
abnormalities (cryptorchidism, polycystic kidneys)
❏ key point: small babies (SGA, microcephaly, short)
❏ prognosis of severe FTT: 33% die in 1 month, 50% by 2 months,
90% by 12 months, profound MR in survivors
Pediatrics 18
MCCQE 2000 Review Notes and Lecture Series
GENETICS . . . CONT.
Notes
TURNER SYNDROME
❏ most common genotype is 45X; mosaic also possible with most
common being (45X/46XX)
❏ incidence 1:2,500 live female births
❏ risk not increased with advanced maternal age
❏ clinical features
• intelligence usually normal, may have mild learning disabilities
• lymphedema, cystic hygroma in the newborn with
polyhydramnios, lung hypoplasia
• short stature, wide carrying angle at elbows
• short webbed neck, low posterior hair line
• broad chest, wide spaced nipples
• infertility, gonadal dysgenesis
• primary amenorrhea, lack of development of secondary sexual characteristics
• heart defects: coarctation of the aorta, bicuspid aortic valve
• renal abnormalities, increased risk of HTN
❏ prognosis: normal life expectancy if no complications; risk of X-linked
diseases increases to that of males
❏ management
• to facilitate growth and development of secondary
sexual characteristics
• hormone/estrogen replacement
• growth hormone (controversial)
KLINEFELTER SYNDROME
❏
❏
❏
❏
1/1,000 live male births, 47 XXY (most common)
associated with late maternal age
doesn’t present until male post-pubertal
mild mental retardation, long limbs, hypogonadism, hypospermia
gynecomastia, lack of facial hair
❏ treatment: testosterone in adolescence
FRAGILE X
❏ most common genetic cause of developmental delay in boys
❏ incidence 1/1250; X-linked recessive
❏ clinical features
• overgrowth: prominent jaw, forehead, ears; elongated, narrow face;
marcroorchidism
• hyperextensibility, high arched palate, mitral valve prolapse
• often hyperactive and/or autistic
• IQ typically 30-65 but 20% of affected males have normal intelligence
• female carriers may show some intellectual impairment
❏ diagnosis
• cytogenetic studies: region on Xq which fails to condense
during mitosis
• molecular testing: overamplification of a trinucleotide
repeat, length of segment is proportional to severity of
clinical phenotype (genetic anticipation)
MUSCULAR DYSTROPHY
❏ a group of inherited diseases characterized by progressive skeletal
(+ cardiac) muscle degeneration
Duchenne Muscular Dystrophy
❏ X linked recessive, 1/3000 males, 1/3 spontaneous mutations
❏ missing structural protein dystrophin, leads to muscle fibre fragility,
fibre breakdown, necrosis and regeneration
❏ clinical features
• by age 3, proximal muscle weakness, Gower's sign
• pseudo-hypertrophy of muscles
• decreased reflexes
• may develop mild mental retardation, obesity
❏ diagnosis
• pedigree
• creatine phosphokinase, lactate dehydrogenase increased
• muscle biopsy, EMG
❏ complications
• patient usually wheelchair bound by 12 years old
• early flexion contractures, scoliosis
• death due to pneumonia/respiratory failure or congestive heart failure
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 19
Notes
GENETICS . . . CONT.
❏ treatment
•
•
•
•
supportive (physiotherapy, wheelchairs, braces), prevent obesity
surgical (for scoliosis)
use of steroids experimental
gene therapy trials underway
Becker's Muscular Dystrophy
❏ dystrophin gene abnormal, symptoms similar to Duchenne but onset
is later and progression is slower
CLEFT LIP AND PALATE
❏ multi-factorial inheritance
❏ see ENT section
INBORN ERRORS OF METABOLISM
❏ an inherited disorder of intermediary metabolism
❏ treatment is sometimes possible because the biochemical basis of the
disorder is understood
❏ presentation
•
•
•
•
seizures, encephalopathy
developmental delay, FTT
renal tubular disease, diffuse liver disease
hypoglycemia, hyperammonemia, wide anion gap
metabolic acidosis
VACTERL ASSOCIATION
❏ number of congenital anomalies occuring together
❏ v=vertebral anomalies,a=imperforate anus,
c=cardiac abnormalities, te=tracheoesophageal fistula,
r= radial and renal dysplasia, l=limb deformity
NEONATOLOGY
INFANT MORTALITY
❏ 9-10/1,000 births
❏ causes
•
•
•
•
•
congenital
prematurity (RDS, intracranial hemorrhage)
asphyxia
infections
sudden infant death syndrome
NORMAL BABY AT TERM
❏
❏
❏
❏
❏
HR 120-160/per min
RR 40-60/per min
weight 2500-4500 g
glucose > 2.2
BP systolic 50-80, diastolic 30-40 (dependent on GA)
GESTATIONAL AGE AND SIZE
Definitions
❏ gestational age
• pre-term: <37 weeks
• term: 37-42 weeks
• post-term: > 42 weeks
❏ SGA: measurements < 2 SD below mean for gestational age (GA)
❏ AGA: within 2 SD of mean for GA
❏ LGA: > 2 SD above the mean for GA
❏ GA can be estimated using the Ballard Score
Pediatrics 20
MCCQE 2000 Review Notes and Lecture Series
Notes
NEONATOLOGY . . . CONT.
Table 7. Infant Maturity
Sites
< = 36 Weeks
37-38 Weeks
> = 39 Weeks
skin
pale, translucent
pinker, smoother
pink, thick
sole creases
smooth progresses
to anterior creases
anterior progresses
to heal creases
increasing depth
of sole creases
breast nodule
diameter
≤ 2 mm
4 mm
5-10 mm
scalp hair
fine and fuzzy
fine and fuzzy
thick and silky
ear lobe
flat, pliable,
no cartilage
some cartilage
stiffened by thick cartilage
testes and
scrotum
testes in lower
canal, small
scrotum, few rugae
intermediate
scrotum full
pendulous,
covered with rugae
labia and
clitoris
prominent clitoris,
small labia
clitoris nearly
covered by prepuce
clitoris covered by prepuce
large labia
Table 8. Abnormalities of Gestational Size and Maturity Features
Features
Causes
Problems
pre-term infants
< 37 weeks
infection (TORCH)
maternal pathology
drugs/EtOH
chromosomal
smoking
multiple pregnancy
infections
placental causes
RDS, respiratory diseases
recurrent apnea
feeding difficulties
hypocalcemia, hypoglycemia
anemia
jaundice
intracranial hemorrhage, cerebral anoxia
hypothermia edema NEC
retinopathy of prematurity
extrinsic causes:
diabetes, nutrition,
hypertension, multiple
pregnancies, drugs,
EtOH, smoking
asphyxia
hypoglycemia
hypocalcemia
• symmetric undergrowth:
early onset, lower growth
potential
intrinsic causes:
infections (TORCH)
meconium aspiration,
chromosomal, genetic,
congenital abnormalities,
syndromal, idiopathic
hypothermia
hyperviscosity (polycythemia)
NEC
PDA
LGA infants - large features
maternal DM,
racial or familial factors
SGA infants
• asymmetric undergrowth:
late onset, growth arrest
post-term infants
• wisened looking, leathery skin
• meconium staining
asphyxia, meconium
aspiration, respiratory distress, TTN, PPH
jaundice, hypoglycemia, hypocalcemia
polycythemia, congenital abnormalities
severe asphyxia, meconium aspiration
hypoglycemia
birth trauma if large infant
NEONATAL RESUSCITATION
❏ How Ready Is This Child?
❏ Assess Apgar at 1, 5 minutes, if < 7 at 5 min then q 5 min
Table 9. Apgar Score
Sign
Heart Rate
Respiratory Effort
Irritability
Tone/Muscle
Color
0
absent
absent
no response
limp
blue, pale
1
< 100/minute
slow, irregular
grimace
some flexion of extremities
body pink, extremities blue
MCCQE 2000 Review Notes and Lecture Series
2
> 100/minute
good, crying
cough or sneeze
active motion
completely pink
Pediatrics 21
Notes
NEONATOLOGY . . . CONT.
Initial Resuscitation
❏ always remember ABC's
❏ anticipation - know maternal history, history of pregnancy, labor, and delivery
❏ all infants
• prevent heat loss by drying, warming (on radiant heater, remove
wet towels)
• position head and neck to open airway for suction
• stimulate infant
❏ Airway
• gentle suction of mouth then nose: < 100 mmHg, < 5 seconds
• with thick meconium, suction the nasopharynx as the head
is delivered, then intubate and suction trachea prior to
first breath if possible
❏ Breathing
• check for spontaneous respirations
• bag and mask if apneic/gasping/HR < 100, bag at a rate of
40-60/minute with 90-100% O2
• intubation is indicated if
• prolonged ventilation is required
• bag and mask are not effective
• tracheal suctioning is needed (thick meconium)
• HR remains < 100
• diaphragmatic hernia is suspected
❏ Circulation
• heart rate is the most important indicator of the need for
intervention
• "80 or less compress" - if bradycardic (apex < 80 and no
improvement with bagging) or asystolic, compressions begin at
rate of 120/minute
• coordinate 3 compressions with 1 ventilation
(120 compressions/minute, 40 ventilations/minute) - check after 30 seconds
• if HR > 80 stop compressions but continue ventilation
❏ Drugs
• epinephrine - for asystole or severe bradycardia
• HCO3 (4.2% solution given slowly)
• CaCO3 - electrical abnormalities
• Narcan - if mother given opioids, general anesthetic
ROUTINE NEONATAL CARE
❏ eye care - erythromycin ointment to prevent ophthalmia neonatorum gonorrhea, chlamydia
❏ vitamin K - to avoid hemorrhagic disease of newborn
❏ HBIG plus vaccine if mother is Hep B +ve
❏ screening test
• in all neonates: PKU, TSH usually after 24 hours of life
• if indicated: blood group, sickle cell, G6PD deficiency (varies by province)
• blood group and direct antiglobulin test if mother Rh-ve
RESPIRATORY DISTRESS IN THE NEWBORN
Presentation
❏ tachypnea > 60 / per min
❏ audible grunting
❏ intercostal retractions/indrawing
❏ nasal flaring
❏ duskiness/central cyanosis
❏ decreased A/E on auscultation
❏ tachycardia > 160 / per min
Diagnosis
❏ chest x-ray
❏ ABG, CBC, blood glucose
❏ blood cultures, Gram stain
Differential Diagnosis
❏ pulmonary
• respiratory distress syndrome (RDS)
• transient tachypnea of the newborn (TTN)
• meconium aspiration (group B strep and others)
• atelectasis
Pediatrics 22
MCCQE 2000 Review Notes and Lecture Series
NEONATOLOGY . . . CONT.
❏
❏
❏
❏
❏
❏
Notes
• pleural effusions
• pneumothorax
• congenital lung malformations
cardiac
• congenital heart disease (cyanotic, obstructive, LR shunt)
• persistent pulmonary hypertension (PPHN)
hematologic
• blood loss
• polycythemia
infectious
anatomic
• tracheoesophageal fistula
• congenital diaphragmatic hernia
metabolic
• hypoglycemia
• inborn errors of metabolism
neuromuscular
• CNS damage (trauma, hemorrhage)
• medication (maternal sedation)
• anomalies (e.g. Werdnig-Hoffmann disease)
• drug withdrawal syndromes
Upper Airway Obstruction
❏ Choanal Atresia
❏ Pierre-Robin syndrome
❏ laryngeal obstruction (stenosis, atresia, malacia)
❏ tracheal obstruction (mass, stenosis, malacia, vascular ring)
❏ mucous plug
❏ cleft palate
RESPIRATORY DISTRESS SYNDROME (RDS)
❏ also known as Hyaline Membrane Disease
❏ most common cause of respiratory distress in the pre-term infant
Pathophysiology
❏ surfactant deficiency —> poor lung compliance due to high
alveolar surface tension and atelectasis —> respiratory
distress—> hypoxia + acidosis
❏ surfactant decreases alveolar surface tension, lung compliance and
functional residual capacity
❏ hypoxia, hypotension, and hypothermia may impair surfactant
production/secretion
Risk Factors
❏ premature babies 5% risk @ 33 weeks, 65% risk @ 29 weeks
❏ infants of diabetic mothers (insulin inhibits the cortisol surge
necessary for surfactant synthesis)
❏ C-section (reduced with antenatal steroids to mother)
❏ asphyxia, acidosis
❏ second of twins
❏ males:females = 2:1
Clinical Features
❏ onset within first few hours of life, worsens over next 24-72 hours,
with symptoms of respiratory distress
❏ infants may develop edema, apnea, respiratory failure, and require ventilation
❏ chest x-ray: decreased aeration and lung volumes, reticulogranular
pattern throughout lung fields with air bronchograms, atelectasis,
may resemble pneumonia
Prevention
❏ minimize prematurity
❏ monitor L/S ratio
❏ steroid therapy (Celestone) for mothers 24 hours prior to delivery
of premature infants
Treatment
❏ supportive: O2, assist ventilation with PEEP or CPAP, fluids, nutrition
❏ surfactant administration (bovine or synthetic)
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 23
NEONATOLOGY . . . CONT.
Notes
Prognosis
❏ self-limited disease, tends to improve after 72 hours without complications
❏ in severe prematurity and/or prolonged ventilation, increased risk
of bronchopulmonary dysplasia
Complications
❏ PDA
❏ bronchopulmonary dysplasia
❏ retinopathy of prematurity
❏ pulmonary air leaks (pneumothorax)
❏ intracerebral/intraventricular hemorrhage
TRANSIENT TACHYPNEA OF THE NEWBORN (TTN)
❏ also known as
• persistent postnatal pulmonary edema
• "wet lung syndrome"
• respiratory distress syndrome type II
Pathophysiology
❏ delayed resorption of fetal lung fluid —> accumulation of fluid in
peribronchial Iymphatics and vascular spaces —> tachypnea
Increased Risk In
❏ full term or slightly premature infants
❏ C-section babies (whose lungs are not compressed during passage
through the pelvic floor)
❏ males
Clinical Features
❏ tachypnea within the first few hours of life (usually within the first
30 minutes); mild retractions, grunting, without signs of severe
respiratory distress
❏ usually resolves in 24-72 hours
❏ chest x-ray: hazy lungs, fluid in fissures, increased vascularity,
slight cardiomegaly
Treatment
❏ supportive: O2, fluids, nutrition
MECONIUM ASPIRATION SYNDROME (MAS)
❏ 10-15% of all births are meconium stained, ~5% of meconium
stained infants get MAS
❏ usually associated with fetal distress in utero, or post-term infant
❏ higher incidence with thick meconium
❏ respiratory distress within hours of birth - tachypnea,
hypercarbia, small airway obstruction, chemical pneumonitis
❏ chest x-ray: hyperinflation, streaky atelectasis, patchy infiltrates
❏ complications: hypoxemia, acidosis, PPHN, 11% pneumothorax,
30% mechanical ventilation, 4% mortality
❏ treatment: supportive care and ventilation, may benefit from surfactant
replacement as surfactant function is inhibited by meconium
❏ prevention: careful in utero monitoring, suction naso/oropharynx at
perineum, then intubate and suction below cords at birth
PNEUMONIA
❏ consider in infants with prolonged rupture of membranes or
maternal fever
❏ suspect if temperature unstable, WBC elevated, or neutropenic
❏ chest x-ray: hazy lung (as in TTN) + distinct infiltrates, normal lung volume
DIAPHRAGMATIC HERNIA
❏ Posterolateral or Anteromedial
❏ clinical features
• respiratory distress, cyanosis
• scaphoid abdomen
• affected side dull to percussion and breath sounds absent;
may hear bowel sounds instead
• asymmetric chest movements, trachea deviated away from affected side
• may present outside of neonatal period
Pediatrics 24
MCCQE 2000 Review Notes and Lecture Series
NEONATOLOGY . . . CONT.
Notes
❏ chest x-ray: portion of GI tract in thorax (usually left side),
displaced mediastinum
❏ treatment: surgical
❏ prognosis: 50% survival overall
• associated with a high incidence of pulmonary vascular
anomalies, hypoplastic lungs
PERSISTENT PULMONARY HYPERTENSION
(PPHN)
❏ R —> L shunt through PDA / foramen ovale / intrapulmonary
channels, decreased pulmonary blood flow creates hypoxemia
leading to further pulmonary vasoconstriction
❏ risk factors: abruption / placenta previa, asphyxia, MAS, RDS,
sepsis, structural abnormalities (Potters / diaphragmatic hernia)
❏ treatment: O2 given early, tapered slowly, minimize stress /
hypoxia, if mechanical ventilation is unsuccessful, extracorpreal
membrane oxygenation (ECMO) may be required
BRONCHOPULMONARY DYSPLASIA (BPD)
❏ usually after prolonged intubation/ventilation with high oxygen
concentration ( incidence with maturity)
❏ persistent respiratory distress
• decreased compliance, increased resistance, pulmonary
edema
• hypoxemia, hypercapnia, may have apnea and
bradycardia
❏ may have cardiac component (congestive heart failure)
❏ treatment: gradual weaning from ventilator, feed and grow, avoid
stress, dexamethasone may help decrease inflammation and
encourage weaning
❏ 15% mortality in severe cases
CYANOSIS OF THE NEWBORN
❏ central cyanosis means poor oxygenation - decreased SaO2
decreased PaO2
❏ peripheral cyanosis can be normal, or it could mean sepsis,
❏
❏
❏
❏
temperature instability, congestive heart failure, vessel
abnormalities
Do ABGs if cyanosis seen in resting state/sleep after 30 min of life
SaO2 < 90% or PaO2 < 60 mmHg = emergency
hemoglobin abnormalities cause decreased SaO2, normal PaO2
always check the pO2 on 100% oxygen x 10-15 min (hyperoxic test)
• if < 100 think congenital heart disease (see Pediatric
Cardiology Section)
• if > 100 think respiratory (airway, chest, lungs), brain or blood
Table 10. Differential Diagnosis of Cyanosis in
the Newborn
Pulmonary
• see Neonatology Respiratory Distress Section
Cardiovascular
• see Pediatric Cardiology Section
Central Nervous System
• maternal sedative drugs
• asphyxia
• intracranial hemorrhage, intraventricular hemorrhage
• nerve-muscle disease
Hematologic
• acute blood loss
• chronic blood loss
• polycythemia
• methemoglobinemia
Metabolic
• hypoglycemia
• adrenogenital syndrome
• shock
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 25
Notes
NEONATOLOGY . . . CONT.
Differential
❏ pink upper, blue lower (more common)
• PPHN
• left heart obstruction/hypoplasia
• coarctation of aorta post subclavian/interrupted aortic arch
❏ blue upper, pink lower
• TGA with R to L shunt across PDA
APNEA
Definition
❏ absence of respiratory gas flow for 20 seconds in the preterm infant
and 15 seconds in the term infant (less if associated with bradycardia
or cyanosis)
❏ central: no chest wall movement
❏ obstructive: chest wall movement continues
❏ mixed: combination of central and obstructive apnea
Differential Diagnosis
❏ apnea < 24 hrs – strongly associated with sepsis
❏ apnea > 24 hrs – if not pathological, apnea of prematurity
❏ in term infant apnea always requires full W/U
❏ CNS
• apnea of prematurity presents in the first week of life due
to prematurity of CNS and resolves by 36 weeks GA.
• seizures
• intracranial hemorrhage
❏ sepsis
❏ GI: GE reflux, esophagitis
❏ metabolic: low glucose, low calcium, low Na
❏ cardiovascular
• low and high blood pressure
• anemia, hypovolemia, PDA
❏ drugs: demerol, morphine
Treatment
❏ correct underlying cause
❏ tactile stimulation, reduce warming of face
❏ monitoring
❏ oxygen, CPAP, ventilation
• medications: methylxanthines (caffeine, theophylline) which
stimulate CNS and diaphragm,
• doxapram (direct CNS stimulant) used in some centres
JAUNDICE
❏ very common - 65% of newborns
❏ 85-102 umol/L (5-6 mg/dl) bilirubin in blood to be visible
❏ look at sclera, mucous membranes, palm creases
Risk Factors
❏ prematurity
❏ acidosis
❏ sepsis
❏ hypoalbuminemia
❏ dehydration
Pediatrics 26
MCCQE 2000 Review Notes and Lecture Series
Notes
NEONATOLOGY . . . CONT.
Unconjugated
Conjugated
pathologic
physiologic
hemolytic
non-hemolytic
• hematoma (cephalohematoma)
• polycythemia
• sepsis
• breast milk
• hypothyroid
• increased enterohepatic circ
• Gilberts
• Lucey Driscoll
• Crigler-Najjar
immune
ABO
Rh
Kell, Duffy, etc
non-immune
Extrinsic
• splenomegaly
• sepsis
• AV malform
Membrane
• elliptocytosis
• poikilocytosis
• spherocytosis
Intrinsic
• G6PD
• PK deficiency
• alpha thal
• HbS usually later
hepatic
post hepatic
• biliary
• hepatitis
biliary atresia
artersia
• infection
• cholodochal cyst
Hep B, TORCH
• bile-duct obstruction
• metabolic
• stones uncommon
• metabolic
•• galactosemia
except with prem. TPN
galactosemia
•• tryoseinosis
tyrosinemia
•• fructosemia
fructosemia
•• hypermethionemia
hypermethionemia
drugs
•• drugs
• sepsis
• sepsis
Figure 2. Approach and Differential for Neonatal Jaundice
< 24 Hours of Age
❏ always pathologic and requires investigation
• blood group, Coombs, hemoglobin, peripheral smear
❏ hemolysis
• Rh or ABO incompatibility
• internal hemorrhage
❏ sepsis/congenital infection: TORCH
> 24 Hours of Age
❏ physiologic
• immature liver enzymes, increased hematocrit with
decreased RBC lifespan overload the liver
• onset day 2-5 in fullterm, 6-7 in preterm infants, usually
peaks 2 days after onset
• doesn’t increase faster than 85 umol/L /day, doesn't exceed 220 umol/L
❏ if not physiologic, then investigate: blood group, Coombs,
hemoglobin, peripheral smear
❏ consider septic workup CBC, diff, C&S urine and blood, ± CSF,
± chest x-ray
❏ increased hemolysis
• G6PD deficiency, pyruvate kinase, spherocytosis
❏ bruising, hemorrhage, hematoma, cephalohematoma
❏ polycythemia
❏ drugs
❏ sepsis/congential infection: TORCHS
❏ dehydration
Prolonged Neonatal Jaundice (> 1 Week of Age)
❏ breast milk
• 1/200 breast fed infants
• inhibition of glucuronyl transferase activity
• may persist up to 4-6 weeks
❏ hypothyroidism
❏ neonatal hepatitis
❏ conjugation dysfunction (e.g. Gilbert's disease, Crigler-Najjar Syndrome)
❏ inborn error of metabolism (e.g. galactosemia)
❏ impaired excretion (e.g. biliary atresia, choledochal cyst)
• conjugated hyperbilirubinemia
• pale stools, dark urine
• failure to thrive, malabsorption
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 27
NEONATOLOGY . . . CONT.
Notes
Kernicterus
❏ CNS toxicity (associated with increased unconjugated bilirubin +
saturation of albumin or open blood brain barrier, basal
ganglia targeted)
❏ clinical features include hearing loss, CP (athetoid), motor
dysfunction, severe mental retardation, death
Treatment
❏ maintain good hydration and normal acid-base status
❏ 1st line therapy: phototherapy - photoisomerization (blue light most effective)
❏ exchange transfusion, depending on level of bilirubin, age, weight
❏ treat any underlying cause
❏ do not interrupt breastfeeding in healthy term newborns
NECROTIZING ENTEROCOLITIS (NEC)
❏ intestinal inflammation associated with focal or diffuse ulceration and
necrosis primarily affecting terminal ileum and colon
Etiology
❏ multifactorial associations
❏ prematurity —> immature defenses
❏ asphyxia, acidosis and hypoxia leading to bowel ischemia
❏ infection: C. difficile toxin, coagulase negative staph in NICU
❏ hypertonic feedings / enteral alimentation
❏ hypovolemia, hypothermia
❏ milk substrate (?cow's milk protein, ?osmolality)
Clinical Features
❏ distended abdomen and signs of obstruction (vomiting)
❏ increased amount + bile stained gastric aspirate/vomitus
❏ frank or occult blood in stool
❏ feeding intolerance
❏ diminished bowel sounds
❏ signs of bowel perforation - sepsis, shock, peritonitis
Investigation
❏ abdomen x-ray: intramural air, perforation, fixed loops,
thickened bowel wall
❏ high WBC, low plt, electrolyte imbalances, acidosis, hypoxia, hypercarbia
Treatment
❏ NPO, vigorous IV fluid resuscitation, NG decompression
❏ TPN
❏ antibiotics for infection
❏ serial abdominal x-rays detect early perforation
❏ surgery for complications (e.g. perforation)
SUDDEN INFANT DEATH SYNDROME (SIDS)
❏ sudden and unexpected death of an infant < 12 months of age in which
the cause of death cannot be found by history, examination and a
thorough postmortem
❏ 1-2/1,000 (leading cause of death between 1-12 months of age)
❏ frequency varies widely in different populations
Epidemiology
❏ more common in children placed in prone position (? cause vs. association)
❏ number of deaths peak at age 2 months
❏ increase in deaths during peak respiratory virus season
❏ most deaths occur between midnight and 8:00 am
❏ more common in prematurity, smoking in household, minorities,
socially disadvantaged
❏ 3:2 male predominance
❏ risk of SIDS is increased 3-5X in siblings of infants who have died of SIDS
Prevention
❏ do not place infant in prone position
❏ alarms/other monitors not recommended ~ increase anxiety and
do not prevent life-threatening events
❏ avoid overheating and overdressing babies
❏ appropriate infant bedding
Pediatrics 28
MCCQE 2000 Review Notes and Lecture Series
Notes
NEUROLOGY
SEIZURE DISORDERS
Classification and description – see Neurology section
Childhood Epileptic Syndromes
❏ infantile spasms
• onset 4-8 months
• brief, repeated contractions of neck, trunk and extremities
(flexion and extension) lasting 10-30 seconds
• occur in clusters; often association with developmental delay
• 40% unknown etiology but association with syndromes
e.g. tuberous sclerosis
• treatment includes ACTH, oral steroids, benzodiazepines,
valproate, vigabatrin
❏ Lennox-Gastaut
• preschool children
• multiple seizure types common with frequent status epilepticus
• seen with previous encephalopathy and brain malformations
• treatment includes valproic acid, benzodiazepines and
ketogenic diet; however, responses often poor
❏ Juvenile myoclonic epilepsy
• adolescent onset (12-16 years of age); autosomal dominant
• myoclonus particularly in morning (generalized T-C)
• requires lifelong valproic acid; prognosis excellent
❏ Benign childhood epilepsy with rolandic spikes
• onset peaks at 9-10 year of age
• focal motor seizures involving tongue, mouth and face
• remains conscious but aphasic post-ictally
• remits spontaneously in adolescence; no sequellae
Generalized Tonic Clonic Seizures
❏ most common type of nonfebrile seizures in childhood
❏ generalized from onset (does not include partial seizures that
become generalized)
❏ often associated with tongue biting and incontinence
Did the child have a seizure?
NO
Breath holding
Night tremor
Benign paroxysmal vertigo
Cough syndrome
Familial choreoathetosis
Hereditary chin trembling
Narcolopsy
Pseudoseizures
YES
Investigation: Electrolytes, BUN, creatinine
Calcium, magnesium, glucose
EEG, CSF, CT, ABG
Hypoxic ischemic encephalopathy “ashpyxia”
Intracranial hemorrhage, trauma eg. shaken baby syndrome
Ingestions/drug withdrawal
Metabolic causes
CNS infections
Idiopathic epilepsy
Neurocutaneous syndromes
Benign febrile seizures
Tumour/AV malformation
Figure 3. An Approach to the Child with a Suspected Convulsive Disorder
Table 11. Anticonvulsive Treatment by Seizure Type
Seizure Type
Treatment
absence
generalized tonic-clonic
myoclonic
partial seizures
ethosuximide or valproic acid if > 2 years
phenobarbital in first 12 months, carbamazepine after
ethosuximide, valproic acid, primidone, clonazepam
carbamazepine or phenytoin (Gabapentin, Lamotrigine, Vigabatrin
as add-on therapy)
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 29
NEUROLOGY . . . CONT.
Notes
Treatment
❏ treat with drug appropriate to clinical situation
❏ start with one drug and increase dosage until seizures controlled
❏ if no effect, switch over to another before adding a second anticonvulsant
❏ education for patient and parents
• privileges and precautions in daily life (e.g. buddy system)
❏ continue anticonvulsant treatment until patient free of seizures for
2 years or more
BENIGN FEBRILE SEIZURES
❏ most common cause of seizure in children
❏ 3-5% of all children, M > F
Criteria
❏ age 6 months - 6 years
❏ thought to be associated with initial rapid rise in temperature
❏ no interictal neurologic abnormalities
❏ no evidence of CNS infection/inflammation or acute systemic
metabolic disorder
❏ no history of non-febrile seizures
❏ most common seizure type is generalized tonic-clonic; however may
be any type
❏ risk factors include
• family history of febrile seizures (40% positive)
• high fever
• slow development of child
Simple Febrile Seizure
❏ duration < 15 minutes (95% < 5 minutes)
❏ generalized, symmetric
❏ does not recur in a 24 hour period
Atypical Febrile Seizure
❏ focal origin
❏ > 15 minute duration, multiple (> 1 in 24 hours)
❏ followed by transient neurologic deficit
Risk Factors for Recurrence
❏ 33% chance of recurrence
❏ age of onset < 1 year
• 50% chance of recurrence if < 1 year
• 28% chance of recurrence if > 1 year
❏ risk of epilepsy is < 5%; risk factors include abnormal development of child
previous to seizures, family history of afebrile seizures and a complex
initial seizure
Workup
❏ history: determine focus of fever, description of seizure, meds, trauma history,
development, family history
❏ exam: LOC, signs of meningitis, neurologic exam
❏ R/O meningitis – do LP if signs and symptoms of meningitis
❏ EEG not warranted unless atypical febrile seizure or abnormal
neurologic findings
❏ investigations unnecessary except for determining focus of fever
Management
❏ COUNSELLING AND REASSURANCE TO PATIENT AND PARENTS
❏ antipyretics (e.g. acetaminophen), tepid baths, fluids for comfort
(will not prevent seizure)
❏ prophylaxis not given except in very unusual circumstances
❏ if high risk for recurrent or prolonged seizures carry rectal Ativan at home
FLOPPY BABY (HYPOTONIA)
❏
❏
❏
❏
decreased resistance to movement
proper assessment of tone requires accurate determination of gestational age
history – obstetrical/perinatal, family, exposures, regression in milestones
evaluate
• spontaneous posture (spontaneous movement? against gravity?)
important in evaluation of muscle weakness
• joint mobility (hyperextensibility?)
Pediatrics 30
MCCQE 2000 Review Notes and Lecture Series
NEUROLOGY . . . CONT.
Notes
• shaking of limbs
• postural maneouvres
❏ postural manoeuvres include
• traction response – pull to sit and look for flexion of arms to
counteract traction; no response at <33 weeks gestation
• axillary suspension – suspend infant by holding at axilla and
lifting; hypotonic babies will slip through the grasp because of
low shoulder girdle tone
• ventral suspension – infant is prone and supported under the
abdomen by one hand; infant should be able to hold up
extremities; inverted “U” posturing demonstrates hypotonia, that
is, baby will drape self over examiner's arm
❏ investigations
• R/O systemic disorders
• lytes, blood glucose, Ca2+, Mg, creatinine
• enhanced CT of brain
• peripheral CK, EMG, muscle biopsy
• chromosome analysis, genetic testing
❏ differential diagnosis of
• hypotonia with associated weakness
• cerebral – malformation, infections, kernicterus, hypoxia
• toxins (via mother) – narcotics, benzodiazepines, general
anaesthetic, magnesium sulphate
• spinal cord – trauma, tumour, myelodysplasia,
infection, vascular lesion
• anterior horn cell – spinal muscular atrophies
• peripheral nerve – post-infectious neuropathy
• neuromuscular junction – botulism, infantile myasthenia
• muscle – Duchenne muscular dystrophy, myotonic dystrophy
• hypotonia without weakness
• systemic – sepsis, heart failure, chromosomal (Down and
Prader-Willi syndromes)
• connective tissue – Marfan syndrome, Ehler-Danlos
• cerebral – birth trauma, hemmorhage, intrapartum hypoxia
• metabolic – nutritional (rickets), renal tubular acidosis,
celiac disease
CEREBRAL PALSY
❏ nonprogressive central motor impairment syndrome due to
❏
❏
❏
❏
prenatal/perinatal events (trauma, lesions, metabolic abnormalities
anomalies of brain); a symptom complex, NOT a disease
association with low birth weight babies
incidence 1.5-2.5/1000 live births (developing countries)
extent of mental retardation varies
life expectancey is dependent on the degree of mobility and mental
retardation, not on severity of CP
Types
❏ spastic i.e. increased tone - diplegia: lower limbs > upper limbs often
due to interventricular hemorrhage or periventricular leukomalacia;
hemiplegia: one-sided paralysis; quadraplegia
❏ extrapyramidal – choreoathetoid (kernicterus), dystonic (fluctuating
high/low tone)
❏ hypotonic
❏ ataxic
❏ mixed
Etiology
❏ often obscure or multiple
❏ no definite etiology identified in 1/3 of cases
❏ 10% due to postnatal insult - infections, asphyxia and trauma
Other Signs
❏ swallowing incoordination - aspiration
❏ microcephaly (25%)
❏ seizures
❏ mental retardation, learning disabilities
❏ delay in motor milestones
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 31
Notes
NEUROLOGY . . . CONT.
Investigations
❏ include metabolics, chromosome studies, tissue exam, serology,
neuroimaging, evoked potentials, EEG (if seizures), ophthalmology,
audiology
Treatment
❏ maximize potential through multidisciplinary services; important for
family to be connected with various support systems
❏ orthopedic management (e.g. dislocations, contractures, rhizotomy)
HYDROCEPHALUS (see Neurosurgery Notes)
❏ excessive accumulation of CSF associated with progressive ventricular dilatation
❏ pathophysiology/etiology
• increased production or CSF e.g. choroid plexus papilloma
• decreased absorption of CSF e.g. hyperplasia of arachnoid villi,
infection/hemorrhage destroying arachnoid villi
• obstruction to flow of CSF e.g. congenital malformations
(Dandy-Walker, Arnold-Chiari), masses, infections, congenital bone defects
Clinical Signs
❏ in utero - large head
❏ ventricular distention leads to stretching of the pathways surrounding
ventricles which may cause ataxia, spasticity (lateral ventricle),
hypothalamic dysfunction (3rd); impaired vertical gaze (4th)
❏ acute (increased ICP)
• irritability, lethargy, loss of appetite, vomiting
• large fontanelle; splayed sutures
• headache
• cranial nerve deficits
• herniation/coma
❏ chronic
• onset < 2 years: macrocephaly and excessive rate of head growth
• ataxia, spasticity
• papilledema, optic atrophy, impaired upward gaze,
• endocrine dysfunction (primarily causing growth failure)
Diagnosis
❏ prenatal ultrasound
❏ post natal ultrasound/CT/MRI
Treatment
❏ medical – treat underlying cause; acetazolamide (transiently decreases
CSF production)
❏ surgical – remove lesion; ventriculoperitoneal shunt
NEURAL TUBE DEFECTS
❏ defective closure of caudal neural tube in fourth week gestation to
varying degrees
❏ spina bifida occulta: vertebrae only (L5, S1), may have identifying
dimple or tuft of hair; generally asymptomatic
❏ meningocele: vertebrae, meninges involved whereas myelomeningocele also includes
spinal cord; neurologic deficits depend on level of lesion (include
bowel/bladder dysfunction, paralysis and sensory deficits)
Etiology
❏ most neural tube defects are polygenic
❏ folic acid administration prior to conception lowers the risk of NTDs > 75%
Screening
❏ antenatal screening: triple screen, amniotic fluid AFP
❏ U/S + triple screen will detect 90% of NTDs
❏ examine backs of all newborns for pigmented spots or hairy patches
Management
❏ essential to have multidisciplinary approach for the family
❏ closure of the skin defect to prevent infection
❏ shunting to address associated hydrocephalus
Pediatrics 32
MCCQE 2000 Review Notes and Lecture Series
NEUROLOGY . . . CONT.
❏
❏
❏
❏
❏
Notes
intermittent catheterization to decrease UTIs, reflux nephropathy
orthopedics/orthotics and physiotherapy to help with posture and ambulation
anesthetic skin care (e.g. bed sores)
tethered cord release
also important to address social issues
NEUROCUTANEOUS SYNDROMES
❏ characterized by tendency to form tumours of CNS, PNS, viscera and skin
❏ Neurofibromatosis type I
• cafe-au-lait spots, axillary freckles, Lisch nodules of the iris,
neurofibromas (progressive and potential to invade)
• seizures, scoliosis, optic glioma
• type II does not have above lesions; associated with brain
tumours; bilateral acoustic neuromas are diagnostic
❏ Sturge-Weber's: port-wine nevus in V-1 distribution with associated
angiomatous malformation of brain, seizures, contralateral hemiparesis
❏ Tuberous Sclerosis: adenoma sebaceum, “ash leaf” hypopigmentation,
cardiac rhabdomyomas, kidney angioleiomyomas, mental retardation
and seizures
GASTROINTESTINAL DISEASE
VOMITING
Approach
❏ consider: infection, inflammation, mechanical obstruction,
motility disorders, others (e.g. eating disorder)
❏ Non GI causes: CNS, UTI, systemic infections, others
Assessment
❏ history
• age of onset, duration, severity
• quality: bilious, bloody, regurgitation
• associated symptoms e.g. fever, abdominal pain
• effect on growth and development, concurrent disease
❏ physical exam: assess hydration (see Table 14)
❏ lab investigation
• bloody emesis: investigate for causes of upper GI bleed
• bilious emesis: rule out obstruction (upper GI series, U/S)
• regurgitation: evaluate for reflux (barium swallow with
fluoroscopy, 24 hour esophageal pH probe)
❏ useful tests (based on history and physical exam)
• CBC, lytes, BUN, Cr, ESR
• urine, blood, stool C&S
• amylase, lipase
• arterial blood gases
• abdominal x-ray, ultrasound, contrast radiology
• endoscopy
❏ management
• treat the underlying cause
• rehydration
VOMITING IN THE NEWBORN
❏ congenital anomalies are a frequent cause, e.g. atresia, Hirshprung’s
❏ differential diagnosis: gastroenteritis, gastroesophageal reflux,
overfeeding, food allergy, milk protein intolerance
Tracheoesophageal Fistula
❏ incidence: 1:3000-1:4500
❏ clinical features vary with type
• vomiting, coughing and gagging
• cyanosis with feeds
• respiratory distress
• may have history of maternal polyhydramnios
• associated anomalies: VATER = Vertebral anomalies, Anal
atresia, TEF and Renal disease plus cardiac abnormalities
and radial defects of the upper limb
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 33
GASTROINTESTINAL DISEASE . . . CONT.
Notes
❏ x-ray —> plain and contrast studies show anatomic abnormality,
NG tube curled in pouch
❏ treatment: early repair to prevent lung damage and maintain nutrition
❏ complications
• pneumonia, lung damage, chronic reactive airways
• stenosis and strictures at repair site
• gastroesophageal reflux and poor swallowing following repair
Duodenal Atresia
❏ clinical features
• bile-stained vomiting if distal to bile duct
• abdominal distention, peristaltic waves
• dehydration
• associated with Down syndrome
• may have history of maternal polyhydramnios
❏ abdominal x-ray —> air-fluid levels on upright film
• "double bubble" sign (dilated stomach and duodenum)
❏ differential diagnosis: annular pancreas, aberrant mesenteric
vessels, pyloric stenosis
❏ treatment
• decompression with NG tube
• correction of metabolic abnormalities
• surgical correction
Pyloric Stenosis
❏ incidence: most common in first-born males, often family history
• M:F = 5:1
❏ clinical features
• non-bilious projectile vomiting that occurs after feeding
• usually starts at 2-6 weeks of age
• infant hungry and alert, will re-feed
• FTT, wasting
• dehydration, may lead to prolonged jaundice
• gastric peristalsis goes from LUQ to epigastrium
• “olive sign” (olive-shaped mass on right at margin of rectus
abdominis muscle)
❏ lab: hypochloremic metabolic alkalosis
❏ diagnosis: clinical, abdominal ultrasound
❏ treatment: pyloromyotomy
Malrotation of the Intestine
❏ 3 presentations: recurrent vomiting (bilious intermittently);
FTT with vomiting; sudden onset abdominal pain and then shock
❏ if vomiting with bilious material, malrotation with volvulus
until proven otherwise
❏ 80% experience symptoms in first two months of life
❏ clinical features
• distended abdomen
• vomiting due to volvulus and bands across duodenum
• cecum free
❏ diagnosed by upper Gl studies: duodenum not fixed,
spiral jejenum, mobile cecum (may not be in RLQ)
❏ treatment: surgical
Other
❏ meconium ileus (see Cystic Fibrosis Section)
VOMITING AFTER THE NEWBORN PERIOD
❏ distinguish from regurgitation (passive ejection of gastric contents
secondary to reflux)
Infectious
❏ GI causes: gastroenteritis, peritonitis, appendicitis, hepatitis, ulcers,
pancreatitis
❏ non-GI causes: UTI, otitis media, CNS infection, raised ICP,
almost any infection, drugs, foreign body
Pediatrics 34
MCCQE 2000 Review Notes and Lecture Series
GASTROINTESTINAL DISEASE . . . CONT.
Notes
Anatomic
❏ GI tract obstruction
• intussusception (see below)
• foreign body e.g. bezoar
❏ gastroesophageal reflux
• usually temporary relaxation of lower esophageal sphincter
—> decreased gastric emptying
• presents with recurrent vomiting after feeds and FTT
• most outgrow reflux by 18 months of age
• conservative management: thickened feeds, elevate bed to 30 degrees
• esophagograms may miss, pH studies are preferred
• treat only if symptomatic or poor weight gain
• medication e.g. cisapride, H2 blockers
• if unresponsive to medication: surgery - Nissen fundoplication
• complications: aspiration, esophageal bleeding, stricture
formation, apnea
Central Nervous System
❏ increased ICP
• hydrocephalus
• neoplasm
❏ drugs/intoxicants
❏ migraine
❏ meningitis, encephalitis
Other
❏ metabolic/endocrine e.g. DKA, inborn errors, liver failure
❏ poisons/drugs: e.g. lead, digoxin, erythromycin, theophylline
❏ psychogenic: e.g. rumination syndrome, bulimia, anorexia, cyclic vomiting
❏ food allergy
❏ regurgitation, overfeeding
ACUTE DIARRHEA
❏ get a good history (daycare, travel, drugs, foods, other symptoms)
Etiology
❏ viral infection
• most common in Canada, e.g. Rotavirus
• associated with URTIs
• slight fever, malaise, vomiting, vague abdominal pain
• resolves in 3-7 days
❏ bacterial infection
• Salmonella, Campylobacter, Shigella, pathogenic E. coli, Yersinia
• more severe abdominal pain, high fever, bloody diarrhea
❏ parasitic infection
• Giardia lamblia, E. histolytica
❏ toxin-induced: staphylococcal food poisoning, C. difficile toxin
❏ allergic: food intolerance
❏ antibiotic-induced
❏ non-specific: associated with any non-GI infection, generalized sepsis or shock
Complications
❏ dehydration (see Table 14)
❏ electrolyte disturbances: hyper or hyponatremia, hypokalemia,
metabolic acidosis
❏ secondary disaccharidase deficiency (transient, due to villous damage)
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 35
GASTROINTESTINAL DISEASE . . . CONT.
Notes
Table 14. Signs of Dehydration
decrease body weight
neurological status
None
–
alert, well
Some
3-5%
irritable
9
Severe
9-10%
lethargic or
unconscious; floppy
++
++
++
drinks poorly or
not able to drink
absent
anuria
sunken eyes
prolonged skin fold
dry oral mucosa
thirst
–
–
–
N, not thirsty
tears
urine output
HR
BP
present
N
N
N
+
+
+
thirsty, drinks
eagerly
absent
slight8
N
8
9
Investigations
❏ stool for C&S and O&P, blood and WBC, C. difficile toxin, Rotazyme assay
Management
❏ rehydration: most children managed with oral fluids e.g. Oral
Rehydration Solution (Pedialyte, Gastrolyte)
❏ fluid replacement: consider deficit (% of body weight),
maintenance and ongoing losses
❏ maintenance fluid requirements
• newborn: 120-160 cc/kg/day (may vary with weight)
• 100 cc/kg/24 hours for first 10 kg or 4 cc/kg/h
• 50 cc/kg/24 hours for second 10 kg or 2 cc/kg/h
• 20 cc/kg/24 hours thereafter or 1 cc/kg/h
• IV fluid rate per hour = total per day divided by 24 (or use 4:2:1 rule)
❏ commonly used IV fluids
• first week of life: D5W + 0.2 NS
• 2/3 D5W 1/3 NS
• NS: as bolus to restore circulation in very dehydrated child
❏ continue breast feeding when possible
❏ DRUGS NOT INDICATED: kaolin, pectin, anticholinergics,
antispasmotics, opiate derivatives
❏ antibiotics used in: Salmonella sepsis, Shigella/Yersinia/enterotoxic
E. coli (Septra), C. difficile (oral Flagyl/Vancomycin), Campylobacter
(Erythromycin)
Table 15. Correction of Fluid and Electrolyte Deficits
Dehydration1
5%
10%
Rate
Isotonic
Na 4-5 mmol/kg
Na 8-10 mmol/kg
K 4-5 mmol/kg
1/2 deficit over 1st 8 hours,
then 1/2 over 16 hours
Hypotonic2
Na < 130 mmol/L
Na 5-6 mmol/kg
K
3 mmol/kg
Na 10-12 mmol/kg
K
5 mmol/kg
If Na ≥ 105, correct as above
If Na < 105, correct by 20 mmol/L maximum
over 0.5-4 hour with hypertonic saline
Na 2-4 mmol/kg
K 2-4 mmol/kg
Na 2-4 mmol/kg
K 2-4 mmol/kg
Correct over 48-72 hours
Do not allow serum Na to drop faster
than 10-15 mmol/L/day3
Hypertonic
Na > 150 mmol/L
Note:
1. For all types dehydration, H2O for 5% dehydration = 50ml/kg; for 10% dehydration = 100 ml/kg
2. To calculate exact deficit: [Na] deficit = ([Na]target – [Na]actual) x body weight (kg) x total body H2O (L/kg)
3. To lower serum Na by a predictable amount, remember: 4 ml/kg of free H2O lowers serum Na by 1 mmol/L
Pediatrics 36
MCCQE 2000 Review Notes and Lecture Series
GASTROINTESTINAL DISEASE . . . CONT.
Notes
CHRONIC DIARRHEA
Clinical Assessment
❏ > 14 days
❏ onset, nature of stool
❏ nutritional status (chronic diarrhea with FTT suggests malabsorption)
❏ history of infection
❏ hydration status
Investigations for Diarrhea of Unknown Etiology
❏ serial heights, weights, growth percentiles
❏ stools for C&S, O&P, occult blood, C. difficile, pH, reducing substances
❏ malabsorption work-up if indicated (see Chronic Diarrhea with FTT below)
❏ x-rays
• upper GI series
• barium enema
❏ mucosal biopsy
CHRONIC DIARRHEA WITHOUT FAILURE TO THRIVE
Infectious
❏ bacterial (e.g. Campylobacter, Salmonella)
❏ antibiotic induced: C. difficile colitis - often bloody stool
❏ parasitic: Giardia lamblia
❏ post-infectious: secondary lactase deficiency
Toddler's Diarrhea
❏ most common cause of chronic diarrhea during infancy, but still
diagnosis of exclusion in thriving child
❏ onset between 6-36 months of age, ceases spontaneously between 2-4 years
❏ stool may contain undigested food particles, 4-6 BM per day
❏ excoriated diaper rash
❏ diet history: lots of juice overwhelms small bowel resulting in
disaccharide malabsorption
❏ four F’s: adequate fiber, normal fluid intake, 35-40% fat,
discourage excess fruit juice
❏ management: reassurance, self-limiting
Lactase Deficiency (Lactose Intolerance)
❏ clinical features
• chronic, watery diarrhea
• abdominal pain, bloating, borborygmi
❏ two scenarios
• primary lactose intolerance: crampy abdominal pain with
loose stool in older children, usually in Orientals, Blacks
• secondary lactose intolerance: old infant, persistent diarrhea
post viral/bacterial infection, Celiac disease, or inflammatory
bowel disease
❏ diagnosis
• clinical trial off milk
• watery stool, acid pH, positive reducing sugars
• positive breath hydrogen test if > 6 years
❏ management
• lactose tolerance test
• milk free diet, soy formula
• Lacteeze, Lactaid tabs/drops
CHRONIC DIARRHEA WITH FAILURE TO THRIVE
❏ suggests malabsorption (with frequent bulky, foul smelling stools)
❏ investigation of malabsorption
•
•
•
•
•
•
stool consistency, pH, reducing substances, microscopy, occult blood
stool: O&P, C&S, C. difficile toxin, 3-day fecal fat
chest x-ray
urinalysis
CBC, differential, ESR, smear, electrolytes, total protein, immunoglobulins
absorptive and nutritional status: albumin, carotene, Ca2+, PO4,
Mg, Zn, Fe, ferritin, folate, fat-soluble vitamins, PT, PTT
• sweat chloride
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 37
GASTROINTESTINAL DISEASE . . . CONT.
Notes
• if indicated, α-antitrypsin level, thyroid function tests, urine
VMA and HVA, HIV test, lead levels
• upper GI series + follow-through
• specialized tests: small bowel biopsy, endoscopy and biopsy
1. Intestinal Causes
Celiac Disease (Gluten-sensitive enteropathy)
❏ defect at the mucosal level
(BROW: barley, rye, oats, wheat)
❏ toxic or immunologic reaction
❏ clinical features
• presents at any age, usually 6-18 months
• FTT with poor appetite, irritability, apathy
• anorexia, nausea, vomiting, edema
• wasted muscles, distended abdomen and flat buttocks
• anemia, bleeding
• rickets
• clubbing of fingers
❏ diagnosis
• fat malabsorption studies
• small bowel biopsy: flat atrophic mucosa with resolution
after trial of gluten-free diet (villous atrophy)
• antigliadin, antiendomysial antibodies, low D-xylose absorption
❏ treatment
• gluten-free diet for life
• avoid BROW
❏ complications if untreated
• small bowel lymphoma
• malnutrition
Milk Protein Allergy
❏ immune-mediated mucosal injury
❏ can be associated with soy protein, anemia, hypoalbuminemia
❏ often atopic individuals
Other
❏ specific enzyme deficiencies
❏ liver disease, biliary atresia
❏ a-ß-lipoproteinemia
❏ short gut syndrome
❏ blind loop syndrome
❏ protein-losing enteropathy (Celiac, IBD, Giardia)
Inflammatory Bowel Disease
❏ see Gastroenterology Notes
❏ incidence: increasing in North America, mostly older children, teenagers
2. Pancreatic Insufficiency
Cystic Fibrosis (see Cystic Fibrosis Section)
❏ loss of exocrine pancreatic function
❏ clinical features
• meconium ileus in the newborn
• FTT with good appetite
• rectal prolapse
• steatorrhea
• respiratory symptoms, nasal polyps
❏ diagnosis: elevated sweat chloride (> 60 mEq/L), increased fecal fat,
DNA mutation
❏ management (GI)
• pancreatic enzyme replacement
• fat soluble vitamins (A,D,E,K)
Shwachman Syndrome
❏ pancreatic insufficiency (autosomal recessive)
❏ cyclic neutropenia
❏ skeletal abnormalities (metaphyseal dystosis leading to short stature)
❏ dry skin, eczematous, ichthyosiform lesions
Pediatrics 38
MCCQE 2000 Review Notes and Lecture Series
GASTROINTESTINAL DISEASE . . . CONT.
Notes
3. Diet-Induced
❏ food allergy
4. Other
❏ diets rich in sorbitol, fructose (poorly absorbed CHO)
❏ metabolic/endocrine
• thyrotoxicosis
• Addison's disease
• galactosemia
❏ immune defects
• IgA deficiency, hypogammaglobulinemia
• SCID
• AIDS
❏ neoplastic
• pheochromocytoma
• lymphoma of small bowel
ACUTE ABDOMINAL PAIN
Assessment
❏ most common GI complaint
❏ accurate description of pain and its characteristics
❏ vomiting before pain suggests gastroenteritis
❏ vomiting after pain suggests a surgical condition
❏ physical examination: rebound tenderness, bowel sounds, rectal exam
❏ labs
• CBC and differential
• urinalysis to rule out UTI
Acute abdominal pain
(non-traumatic)
Obstructive symptoms
NO
YES
Peritonitis?
YES
Intussusception, volvulus,
incarcerated hernia, etc...
NO
Consider
appendicitis
Mass?
NO
Infectious
Non-GI eg. UTI
Drug-related
Metabolic
YES
Radiologic
evaluation
Figure 4. Approach to Acute Abdominal Pain
Differential Diagnosis
• gastroenteritis
• incarcerated hernia
• UTI
• appendicitis
• intussusception
• malrotation
•
•
•
•
•
•
volvulus
Henoch-Schönlein Purpura
sickle cell crisis
pneumonia
DKA
mesenteric adenitis
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 39
GASTROINTESTINAL DISEASE . . . CONT.
Notes
1. Appendicitis
❏ most common inflammatory bowel disorder from 5 years on
❏ clinical features
• low grade fever
• anorexia
• abdominal pain: periumbilical then RLQ
• nausea, vomiting (after onset of pain)
• peritoneal signs
• generalized peritonitis is a common presentation in
infants/young children
❏ treatment: surgical
❏ complications
• perforation
• abscess
2. Intussusception
❏ 90% idiopathic, children with CF at significantly at risk
❏ 50% between 3 – 12 months, 75% before 2 years of age
❏ telescoping of segment of bowel into distal segment
—> ischemia and necrosis
• usual site: ileocecal junction
❏ lead point may be swollen Peyer's patches, Meckel's
diverticulum, polyp, malignancy in older child
❏ clinical features
• sudden onset of recurrent, paroxysmal, severe
periumbilical pain
• pain-free remissions
• later vomiting and rectal bleeding (“red currant jelly” stools)
• sausage-shaped mass often in upper to mid abdomen
• shock and dehydration
• “classic triad” of abdominal pain, palpable sausage-shaped
mass and red currant jelly stools only in 10-15% of patients
❏ diagnosis and treatment
• air enema —> see reverse "E" sign
• U/S
• reduction under hydrostatic pressure, air enema
• surgery rarely needed
CHRONIC ABDOMINAL PAIN
❏ 10-15% of children
❏ definition: three or more episodes of pain severe enough to affect
activities, occurring over a period of 3 months
Assessment
❏ distinguish organic from non organic
❏ history
• weight loss, appetite, energy
• associated vomiting, diarrhea
• characteristics of pain
• psychosocial issues
❏ physical exam: abnormalities suggest organic nature
❏ red flags for organic etiology
• age < 5 years old
• fever
• pain away from midline
• anemia
• localized pain awakens child at night • travel history
• prominent vomiting, diarrhea
• weight loss or failure to
• joint pain
gain weight
Organic (< 10%)
❏ chronic infection
❏ GI
• constipation - cause or effect?
• inflammatory bowel disease
• anatomic anomalies, masses
• esophagitis
• peptic ulcer disease, lactose intolerance
• pancreatic, hepatobiliary
❏ genitourinary disease
❏ gynecological
❏ cardiovascular
❏ neoplastic
Pediatrics 40
MCCQE 2000 Review Notes and Lecture Series
GASTROINTESTINAL DISEASE . . . CONT.
Notes
Functional, Recurrent Abdominal Pain (RAP) (90%)
❏ school age, peak 8-10 years
❏ F>M
❏ vague, crampy periumbilical or epigastric pain, vivid imagery to
describe pain
❏ should not awaken child
❏ no precipitating or relieving factors, no consistent pattern
❏ child appears well with normal growth
❏ associated with school absenteeism
❏ diagnosis
• must consider kidney disease, malrotation of bowel, IBD
• school phobia?
❏ investigations as indicated
• CBC, ESR, urinalysis, stools for O&P, C&S, occult blood
❏ treatment
• manage any emotional or family problems
• trial of high fibre diet, trial of lactose-free diet
• reassurance
CONSTIPATION
❏ as many as 20% of children < 5 years of age
Assessment
❏ history
• age of onset, dietary history
• associated symptoms: abdo pain, encopresis, overflow diarrhea
❏ physical exam
• examine lower back for evidence of occult cord lesion (NTD)
• abdominal exam
• rectal exam
❏ most often diet-related with no specific disease
❏ Hirschsprung's disease
Functional Constipation
❏ 99% of cases of constipation
❏ lack of bulk or fibre in diet or change in diet
❏ poor fluid intake
❏ in children, can occur during toilet training, or due to pain on
defecation, stool witholding
❏ in infants, often when introducing cow's milk after breast milk
❏ treatment
• increase fluids, increase dietary fibre
❏ complications
• anal fissures and pain—> withhold passing stool
—> chronic dilatation and overflow incontinence,
encopresis = Pain Retention Cycle
❏ treatment
• increase fluids, increase dietary fibre
• may need mineral oil, laxatives
• appropriate toilet training technique
Specific Organic Disorders
1. Hirschsprung's Disease (congenital aganglionic megacolon)
❏ rectosigmoid in 75% of cases
❏ incidence: M:F=3:1, 1/5 000 live births
❏ associated with Down syndrome
❏ clinical features
• severity depends on length of involvement
• no meconium within first 24 hours
• palpable stool on abdominal exam with empty rectum on DRE
• intermittent diarrhea, BM only with rectal stimulation
• constipation
• abdominal distention
• vomiting
• FTT
❏ complications
• enterocolitis: may be fatal, peak incidence 2-3 months of age
• toxic megacolon and perforation
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 41
GASTROINTESTINAL DISEASE . . . CONT.
Notes
❏ diagnosis
• barium enema: proximal dilatation due to functional
obstruction, empty rectum
• manometric studies: may have false positives
• rectal biopsy: definitive diagnosis (absent ganglion cells)
❏ treatment
• nonsurgical if short segment
• surgery: colostomy and re-anastomosis
2. Other
❏ intestinal obstruction
❏ endocrine
• hypothyroidism
• diabetes mellitus
• hypercalcemia
❏ neurogenic bowel (i.e. spina bifida)
❏ anal fissure/stricture/stenosis
❏ collagen vascular disease
❏ drugs: lead, chemotherapy, opioids
ABDOMINAL MASS
Table 16. Differential Diagnosis of Abdominal Mass
Renal
Benign
Malignant
hydronephrosis
polycystic kidney disease
hamartoma
nephroblastoma (Wilm’s)
renal cell carcinoma
Adrenal
neuroblastoma
Ovarian
ovarian cysts
ovarian tumors
Other
splenomegaly
pyloric stenosis
abdominal hernia
teratoma
lymphoma
retroperitoneal
rhabdomyoscarcoma
❏ 50% of abdominal masses in the newborn are renal in origin
GASTROINTESTINAL HEMORRHAGE
Assessment
❏ assess hemodynamic stability
❏ NG tube to determine if upper or lower bleed
❏ history: acute or chronic, age of child
• associated symptoms, etc...
❏ management
• volume resuscitation and stabilization
• treat underlying condition
Upper GI Bleeding
❏ mucosal lesions
• gastritis/gastroenteritis
• esophagitis
• duodenal/gastric ulcer
• Mallory-Weiss tear
• epistaxis, foreign body
❏ vascular
• coagulopathy
• vitamin K deficiency (hemorrhagic disease of the newborn)
• esophageal varices
❏ other
• swallowed blood, food colouring
❏ investigations
• CBC, stool OB, NG aspirate: blood, pH, Apt test in newborn
• endoscopy, colonscopy when stable
❏ treatment
• underlying cause, may use H2 blockers
Pediatrics 42
MCCQE 2000 Review Notes and Lecture Series
Notes
GASTROINTESTINAL DISEASE . . . CONT.
Lower GI Bleeding
1. Acute
❏ infection
• bacterial, parasitic, antibiotic-induced (C. difficile)
❏ anatomic
• malrotation/volvulus
• intussusception “red currant jelly" stools
• Meckel's diverticulum
• anal fissures
❏ vascular/hematologic
• Henoch-Schönlein Purpura
• hemolytic-uremic syndrome (E. coli)
• coagulopathy
2. Chronic
❏ anal fissures most common
❏ colitis
• inflammatory: IBD
• allergic (milk protein)
❏ structural
• polyps: most are hamartomas
• neoplasms: rare
❏ coagulopathy
INFECTIOUS DISEASES
Fever
< 3 months
❏ admit, Full SWU1
treat pending results
or
IF ❏ age 28-90 days
❏ non-toxic and
❏ reliable F/U2 and
❏ low risk3 criteria
3 months - 3 years
TOXIC
NON-TOXIC and NO FOCUS
❏ admit,
Full SWU1 and
treat
T > 39.5ºC
T < 39.5ºC
❏ urine R&M
❏ CBC
❏ urine R&M
❏ observations
❏ F/U2 in 24 hours
WBC > 15
may consider observation
on out patient basis following
SWU (+/– Abx)
WBC < 15
❏ Blood C&S
❏ observation
❏ urine C&S
❏ acetaminophin
❏ acetaminophin ❏ F/U2 in 24 hours
❏ +/– Abx
NOTES:
1. Full septic workup - blood C&S, CBC and differential, urine R&M, C&S, LP, chest x-ray if respiratory SSx, stool C&S if GI SSx
2. Follow-up is crucial - if adequate F/U is not assured, a more aggressive diagnostic and therapeutic approach may be indicated
3. Low-Risk Criteria - previously healthy, normal physical exam (non-toxic), negative lab screen (WBC 5-15, < 1.5 x 109 bands,
urine < 10 WBC/hpf, stool < 5 WBC/hpf)
4. Important Principles - the younger the child, the greater the difficulty to clinically assess the degree of illness
Figure 5. Approach to the Febrile Child
Clinical Pearl
❏ Teething may cause a temperature elevation >37.5ºC on the first day of the
eruption in 50% of infants. However, significant temperature elevation
should never be attributed solely to teething!
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 43
Notes
INFECTIOUS DISEASES . . . CONT.
SEPSIS IN THE NEONATE
Table 17. Neonatal Sepsis
Early Onset (birth-8 days)
Late Onset (8-28 days)
• begins in utero
• Risk Factors:
maternal UTI, GBS positive, 1º maternal infection
maternal fever/ leukocytosis/ chorioamnionitis
prolonged rupture of membranes,
prematurity, large inocculum
• GBS, E. coli, Listeria,
Klebsiella
• acquired after birth
• usually healthy, full-term
• same pathogens plus:
pneumococcus, meningococcus, HSV,
Staphylococcus
Signs of Sepsis
• respiratory distress, cyanosis, apnea
• tachycardia/bradycardia
• lethargy, poor feeding
• hypotonia, seizures, bulging fontanelle
• jaundice
• temperature instability (hypo/hyperthermia)
Table 18. Antibiotic Treatment of Serious Bacterial Infections
Neonate
pathogens: GBS, E.coli, Listeria, S. aureus
ampicillin + gentamicin
or
ampicillin + cefotaxime
+/– cloxacillin if risk of S. aureus
1-3 months
same pathogens as above and below
ampicillin + cefotaxime
> 3 months
pneumococcus, H. influenzae type b (> 5 years),*
meningococcus
cefuroxime
+/– cloxacillin if risk of S. aureus
ceftriaxone or cefotaxime, if risk of meningitis
vancomycin, if penicillin/ cephalosporinresistant pneumococci
*Hib has dramatically decreased since introduction of Hib vaccine
MENINGITIS
❏ peak age: 6-12 months; 90% occurs < 5 years old
Risk Factors
❏ compromised immunity e.g. HIV, asplenia, prematurity
❏ neuroanatomical defects e.g. dermal sinus, neurosurgery
❏ parameningeal infection e.g. sinusitis, mastoiditis
❏ environmental e.g. day-care centres, household contact,
travel to endemic regions
Pathophysiology
❏ URTI ––> blood stream invasion from respiratory tract ––> hematogenous
seeding of meninges ––> meningeal and CNS inflammation
Clinical Features
❏ +/– URI prodrome
❏ fever, toxic, lethargy, irritability
❏ headache, photophobia, nausea/vomiting
❏ younger infants may not demonstrate localizing signs, may have non-specific
symptoms (poor feeding, irritability, lethargy)bulging fontanelle
❏ signs of meningismus: Brudzinski’s, Kernig’s, opisthotonous,
nuchal rigidity, CN III and IV paralysis
❏ increasing head circumference (if sutures not closed)
❏ seizure in 20-30% of patients with bacterial meningitis
❏ petechial rash (meningococcus)
Pediatrics 44
MCCQE 2000 Review Notes and Lecture Series
INFECTIOUS DISEASES . . . CONT.
Notes
Diagnosis
❏ LP for CSF
• raised opening pressure (norms: recumbent and relaxed, less flexed
position < 160 mm H2O, flexed lateral decubitus position = 100-280 mm H2O)
• cloudy in bacterial infection
❏ viral meningitis
• Enterovirus, EBV, Influenza, Herpes, Adenovirus
• WBC < 300 x 106/L (usually lymphocytes),
• glucose normal, protein normal to high
❏ bacterial meningitis
• WBC > 1000 x 106/L, increased PMNs;
WBC may be < 100 x 106/L in early disease
• elevated protein > 0.4 g/L
• decreased glucose < 2.1 mmol/L (< 50 % serum glucose)
• Gram stain positive in 80-90% of cases
• CSF culture
• Ziehl-Neelson stain, if TB suspected
• latex agglutination tests if partially treated meningitis
❏ CBC (< 2 x 109/L WBC = bad prognostic marker)
❏ blood glucose
❏ blood cultures (positive in 90% cases)
❏ electrolytes (SIADH)
❏ if partially treated meningitis, LP may show persistent
abnormalities, plus a positive CSF culture
Complications
❏ mortality: neonate 15-20%, children < 10%,
pneumococcus > meningococcus > Hib
❏ acute
• SIADH ––> hyponatremia ––> brain edema
• seizures
• subdural hematoma
• brain abscess, disseminated infection (osteomyelitis, septic arthritis, abscess)
• shock/DIC
❏ chronic
• hearing loss
• mental retardation/ learning disability
• neurological deficit, seizure disorder
• hydrocephalus
Treatment
❏ antibiotics (see Table 18) should be immediate, do not wait for
LP results
if viral: supportive, acyclovir for herpes
❏ fluid restriction if SIADH
❏ monitor glucose, acid-base and volume status
steroids in Hib meningitis may reduce neurologic sequelae if
given very early
❏ anticonvulsants may be needed to treat seizures
❏ isolation
❏ prophylaxis
• active immunization
• H. influenzae type b vaccine - routinely
• meningococcal vaccine - if asplenic, complement deficient
or for outbreaks
• pneumococcal vaccine- if immunocompromised/splenectomized
• BCG vaccine - if born in TB-endemic area
• chemoprophylaxis for contacts and index case
• H. influenzae - rifampin
• N. meningitidis - rifampin (ceftriaxone or sulfisoxazole)
❏ report to public health if H. influenzae or N. meningitidis
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 45
Notes
INFECTIOUS DISEASES . . . CONT.
HIV INFECTION
Epidemiology
❏ risk of infection 20-30% born to untreated HIV infected women
❏ transmission
• infants and children: transplacental most common,
maternal blood, rarely through breast milk
• adolescents: sexual intercourse, needles, blood
products
❏ incubation period: months to years (short incubation in 25%)
❏ signs and symptoms occur often within the first year, most within two years
HIV Testing
❏ viral nucleic acid by PCR
❏ viral culture
❏ viral antigen - p24
❏ HIV antibody - ELISA and Western blot to confirm
• maternal HIV antibodies can persist up to 18 months
• if child breastfeeding repeat test 3 months after stopping
breastfeeding
Clinical Features of AIDS in Infants and Children
(see Infectious Diseases Notes)
❏ FTT, hepatomegaly, Iymphadenopathy
❏ recurrent/persistent thrush
❏ chronic interstitial pneumonitis (relatively common); PCP
❏ opportunistic infections
❏ encephalopathy
Management
❏ prompt treatment of infections
❏ adequate nutrition
❏ prophylaxis
• TMP/SMX for PCP
• +/– IVIG
❏ nystatin, cotrimoxazole, ketoconazole, acyclovir if indicated
❏ suppression of HIV
• Zidovudine, other e.g. didanosine
❏ immunizations
• all routine immunizations (including MMR if well)
• avoid OPV and BCG
• pneumococcal, influenza and varicella vaccines
PERIORBITAL/ORBITAL CELLULITIS
❏ medical emergency
❏ periorbital vs. orbital (proptosis, compromised visual acuity, strabismus
and extraocular movements, deep eye pain)
Clinical Features
❏ unilateral eyelid swelling with erythema
❏ conjunctive usually normal
❏ if bacteremic, other systemic features present (fever, WBC)
❏ orbital cellulitis: proptosis, ophthalmoplegia, pain on eye
movement, decreased visual acuity
Pathophysiology
❏ secondary to sinusitis, dental sepsis, eye or skin infection
❏ primary infection with hematogenous spread to orbit
❏ H.influenzae, S.pneumonia, S.aureus
Treatment
❏ blood C&S
❏ urgent IV antibiotics
• traumatic, any age: cloxacillin or cefazolin
• nontraumatic, < 5 years: cefotaxime or cefuroxime
• nontraumatic, > 5 years: cloxacillin or cefazolin
❏ may require urgent drainage
• rifampin for contacts if H. influenzae
❏ mild early cases can be treated as outpatients with close follow-up
Pediatrics 46
MCCQE 2000 Review Notes and Lecture Series
INFECTIOUS DISEASES . . . CONT.
Notes
Complications
❏ cavernous sinus thrombosis
❏ meningitis
❏ brain abscess
OTITIS MEDIA (see Otolaryngology Notes)
Etiology
S. pneumoniae (30%)
nontypable H. influenzae (20%)
M. catarrhalis (20%)
group A Strep (5%)
viral (20-25%)
❏
❏
❏
❏
❏
Risk Factors
❏ daycare attendance
❏ bottle feeding in bed
❏ second-hand smoke
❏ formula-fed infants
❏ cleft lip, Down syndrome
❏ low socioeconomic status
❏ Inuit, Aboriginals
Clinical Features
❏ may follow URI
❏ painful ear, tugging, tinnitus, vertigo
❏ discharge if perforated
❏ hearing loss
❏ fever, vomiting, irritability in younger infants
❏ first stage —> slightly retracted, red tympanic membrane
❏ second stage —> bulging, red TM with fluid level, ± perforation
Treatment
❏ 1st line: amoxicillin
❏ if no improvement after 48 hours or child received amoxicillin in last
4 weeks, consider 2nd line:
• erythromycin-sulfonamide (Pediazole)
• trimethoprim/sulfamethoxazole
• amoxicillin/clavulanate
• cefixime (once daily regimen)
• cefuroxime PO
❏ 10 day oral regimen for uncomplicated acute episodes
❏ ± daily prophylaxis if recurrent episodes
❏ ± tympanostomy tubes +/– adenoidectomy
Complications
❏ hearing loss, chronic effusion
❏ cholesteatoma, mastoiditis
❏ meningitis
STREPTOCOCCAL INFECTIONS
1. Pharyngitis and Tonsillitis
❏ viral etiology more common than bacterial in > 3 years of
age group
❏ bacterial etiology (Group A Strep)
• > 3 years old
• sore throat, fever, exudate on red tonsils, tender cervical
nodes, associated headache, abdominal pain
• exudate on red tonsils also seen in EBV, adenovirus, diphtheria
❏ viral etiology (adenovirus, enterovirus, and EBV in older age group)
• < 3 years old
• runny nose, cough, diarrhea, rash
Management of Strep throat
❏ symptomatic
❏ antibiotics to prevent rheumatic fever, shorten illness duration
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 47
Notes
INFECTIOUS DISEASES . . . CONT.
❏
❏
❏
❏
❏
> 3 years old, culture before treatment or do rapid Strep Antigen test
rapid Strep test only 70-90% sensitive, do cultures if negative
can prevent rheumatic fever if treated within 9-10 days
antibiotics do not alter the risk of glomerulonephritis
antibiotics for proven bacterial infection
• penicillin or erythromycin x 10 days
Indications for Tonsillectomy
❏ proven, recurrent Strep tonsillitis
❏ peritonsillar abscess (rare)
❏ symptomatic tonsillar hypertrophy
• sleep apnea
• hypoxia
• cor pulmonale
❏ suspected tumour
2. Scarlet Fever
❏ erythrogenic strain of Group A hemolytic Strep
❏ acute onset of fever, sore throat, strawberry tongue
❏ 24-48 hours after pharyngitis, rash develops which begins
in the groin, axillae, neck, antecubital fossa
❏ within 24 hours, rash becomes generalized with perioral sparing
❏ rash fades after 3-4 days, may be followed by peeling
❏ penicillin (or erythromycin)
3. Post-Infectious Complications - Rheumatic Fever
❏ Jones Criteria (revised)
• requires 2 major OR 1 major and 2 minor PLUS evidence of
preceding Strep infection (increased ASOT, throat swab, recent
scarlet fever)
• major criteria: "SPACE"
• subcutaneous nodules
• pancarditis
• arthritis (migratory)
• chorea (Sydenham's)
• erythema marginatum
• minor critera
• previous rheumatic fever or rheumatic heart disease
• polyarthralgia
• fever
• elevated ESR or C reactive protein or leukocytosis
• prolonged PR interval
❏ treatment
• penicillin for acute course
• secondary prophylaxis for at least 5 years or until 21 years old
• anti-inflammatory drugs (ASA)
❏ complications
• mitral insufficiency/stenosis
• aortic insufficiency/stenosis
4. Invasive Group A Strep
❏ bacteremia post streptococcal disease of skin, resp tract, rectum, or vagina
❏ DIC, shock, and peripheral gangrene can occur
❏ hematogenous dissemination ––> meningitis, osteomyelitis,
arthritis, soft tissue abscesses, pneumonia, or endocarditis
❏ necrotizing fascitis
❏ streptococcal toxic shock-like syndrome may occur after
streptococcal superinfection of varicella lesions
❏ treatment: IV penicillin. If allergic, erythromycin or clindamicin
5. Impetigo (see Dermatology Section)
6. Group B Strep
❏ common cause of neonatal infection
Pediatrics 48
MCCQE 2000 Review Notes and Lecture Series
Notes
INFECTIOUS DISEASES . . . CONT.
Table 19. Features of GBS Infections
Feature
Early Onset
Late Onset
Late-late Onset
Age range
< 7 days
7 days - 3 months
> 3 months
Median age of onset
1 hour
27 days
unknown
Incidence of prematurity
30%
uncommon
common
Clinical presentation
- sepsis ± signs of
resp distress
- meningitis (5-10%)
- sepsis ± signs of
resp distress
- meningitis (30%)
- soft tissue, bone,
joint localization
- in VLBW, premature
and immunocompromised:
bacteremia, sepsis, septic arthritis
Mortality rate
5-20%
2-6%
low
❏ treatment
• initial suspected GBS infection: IV ampicillin and gentamicin
until CSF or bloodstream sterility documented
• upon confirmation of GBS: IV penicillin x 14 days (meningitis) to
4 weeks (endocarditis)
• meningitis: repeat LP at 24 hours after initial treatment (controversial)
PERTUSSIS/WHOOPING COUGH
❏
❏
❏
❏
❏
Bordetella pertussis
incubation: 6-20 days
communicable from 1 week before paroxysms to 3 weeks after
decreased incidence due to immunizations
highly contagious; airborne ––> transmitted via air droplets
released during intense coughing
Clinical Features
❏ prodromal catarrhal stage
• 1-2 weeks, most contagious
• coryza, mild cough, low grade fever
❏ paroxysmal stage
• 2-4 weeks
• paroxysms of cough, sometimes followed by inspiratory whoop
• +/– vomiting with coughing spells
• can have severe symptoms for 6 weeks, cough for 6 months
• pressure effect - subconjunctival hemorrhage, rectal prolapse, hernias, epistaxis
❏ convalescent stage
• 1-2 weeks, noninfectious
• occasional paroxysms of cough but decreased frequency and severity
Complications
❏ respiratory
• secondary pneumonia (most common), otitis media
• atelectasis
• apnea (infants)
❏ neurological
• seizures
• encephalopathy (1:100 000)
• intracranial hemorrhage
Diagnosis
❏ clinical: URTI symptoms followed by paroxysms of cough in an afebrile child
❏ lymphocytosis
❏ culture of nasopharyngeal swab or aspirate
❏ fluorescent antibody staining of pharyngeal specimen (most sensitive); PCR
Treatment
❏ supportive care is mainstay of treatment
❏ hospitalize if paroxysms of cough are associated with cyanosis and/or apnea
❏ erythromycin x 14 days
• isolate until 5 days of treatment
• treatment will decrease infectivity but not change course
• shortens period of communicability
❏ chemoprophylaxis: erythromycin for all household contacts
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 49
Notes
INFECTIOUS DISEASES . . . CONT.
INFECTIOUS MONONUCLEOSIS
❏
❏
❏
❏
the “great imitator"
Epstein-Barr virus (EBV)
systemic viral infection that affects many organ systems
transmission through saliva - “kissing disease”
Presentation
❏ tonsillar exudate
❏ lymphadenopathy
❏ fever
❏ +/– rash - pathognomonic rash with amoxicillin/ampicillin
❏ +/– hepatosplenomegaly
❏ any -itis, including arthritis, hepatitis, nephritis
Blood Picture
❏ atypical lymphocytes, lymphocytosis, Downey cells
❏ ± anemia
❏ ± thrombocytopenia
❏ heterophil antibody test (Monospot test) not sensitive in children < 4 years
❏ EBV titres
Treatment
❏ throat culture to rule out streptococcal pharyngitis
❏ bed rest, fluids, saline gargles for sore throat, acetaminophen
❏ if airway obstruction, admit - steroids
❏ avoid contact sports if organomegaly present
❏ resolves over 2-3 weeks although fatigue may persist
URINARY TRACT INFECTION
❏ see Urology Notes
❏ in newborns - more common in males
❏ in children - more common in females due to straight short urethra
Risk Factors
❏ female (after 2 years), neurogenic bladder, reflux,
GU tract abnormalities, diabetes, immunocompromised, sexual
intercourse, uncircumcised male, poor hygiene
Signs and Symptoms
❏ non-specific - fever, vomiting, irritability
❏ specific - dysuria, flank pain
Diagnosis
❏ MSU: > 105 colonies/ml of single organism OR catheter: > 103
colonies/ml OR
❏ suprapubic: any growth
❏ urine R&M diagnostic sensitivity: WBC 40%, bacteria 60%, WBC +
bacteria 99%
Treatment
❏ hydration and antibiotics
❏ 7-10 days eg: TMP/SMX, amoxicillin/pivampicillin, nitrofurantoin, TMP
❏ if toxic, give IV initially (amp + gent/ceftriaxone/cefotaxime)
❏ prophylaxis if reflux, neurogenic bladder, recurrent UTIs (> 3 UTIs/year)
❏ later investigations
• U/S and VCUG - for anatomical abnormalities, reflux
• renal nuclear scans
❏ indications for investigations: < 1 year old with symptomatic UTI, all
boys, all febrile UTIs with significant systemic symptoms
❏ prophylaxis if reflux, neurogenic bladder, recurrent UTIs (> 3 UTIs/year)
Pediatrics 50
MCCQE 2000 Review Notes and Lecture Series
DERMATOLOGY
Notes
COMMON BENIGN NEONATAL CONDITIONS
❏ vascular instability (cutis marmorata, phlebectasia, acrocyanosis) may
be normal particularly in premature infants
❏ vernix caseosa is a soft creamy white layer which is common in
❏
❏
❏
❏
pre-term babies and disappears by term; in contrast to post-term in
which peeling of extremeties is common
Mongolian spots are bluish black macules over lower back and
buttocks seen commonly in Negroid, Indian and Asian infants (may
look like bruises)
capillary hemangioma is a raised red lesion which increases in size
after birth and generally resolve between 1-4 years of age
erythema toxicum is an erythematous papular-vesicular rash which is
self-limited
pustular melanosis is defined by brown macular base with dry vesicles
more common in Negroid infants
DIAPER DERMATITIS
❏ differential diagnosis
•
•
•
•
1. irritant contact dermatitis
2. seborrheic dermatitis
3. candidiasis
4. psoriasis
Primary Irritant Dermatitis
❏ intertriginous areas not involved (differentiates from candida)
❏ chemical irritation (urine, feces) – very common
❏ seen in infants with diarrhea or home diapering
Treatment
❏ use disposable diapers
❏ 1% hydrocortisone cream
❏ use protective ointments e.g. vaseline, zinc oxide
SEBORRHEIC DERMATITIS
❏ usually appears in the first few days of life
❏ thick yellow greasy scale
❏ sites include scalp (cradle cap), eyebrows, nose, diaper area
including intertriginous areas
❏ non-pruritic
❏ usually happy baby
Treatment
❏ scale removal with oils and physical means, tar shampoos, hydrocortisone
CANDIDA
❏ red confluent lesions with “satellite" lesions
❏ intertriginous areas involved (distinguish from diaper dermatitis)
❏ may have concomitant oral thrush
Treatment
❏ topical antifungal
ITCHY ERUPTIONS IN CHILDHOOD
1. Atopic dermatitis
2. Contact dermatitis
3. Scabies
4. Urticaria
5. Bites (mosquito, flea)
6. Chicken pox
ATOPIC DERMATITIS (ECZEMA)
❏ family history positive for atopy (asthma, allergy, ASA sensitivity)
❏ those affected thought to have a decreased threshold for pruritis and
for reaction to irritants
❏ serum IgE levels are higher in 80-85% of those affected
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 51
Notes
DERMATOLOGY . . . CONT.
Clinical Stages
Location
infantile (3 months to 3 years)
childhood (3 years to puberty)
adult (puberty onwards)
face and extensors of lower legs
flexural areas
diffuse on face and extremities
❏ diagnostic criteria include
• characteristics of lesions (acute and chronic)
• follows typical distribution
• chronic relapsing course
• family history of atopy
❏ acutely: erythema, vesicles, exudate and crusts, pruritis
❏ chronic: scaling, xerosis, lichenification and pigment changes
❏ prognosis – approximately 75% have remission by adolescence
Treatment
❏ general: stress chronicity of illness; prevent scratching by physical means
❏ specific therapy
• topical steroids: hydrocortisone 1% to face and folds,
medium strength on rest of body (no systemic steroids)
• antihistamines are effective against pruritis
• skin hydration by vaseline application while wet
• skin hygiene to prevent infection
• avoid harsh soaps, chemicals, perfumes, wool, etc.
❏ systemic medication
• antihistamines; antibiotics when infected
• do not use systemic steroids
Complications
❏ secondary infection (Staph, herpes simplex)
IMPETIGO
❏
❏
❏
❏
❏
❏
contagious infection by S. aureus and Group A Strep
honey-coloured, crusting erosions - Streptococcus
may have bullous lesions (bullous impetigo) - Staphylococcus
occurs on exposed areas (face)
satellite lesions by autoinoculation
non-pruritic
Treatment
❏ topical antibiotics (fucidin/bactroban)
❏ penicillin, erythromycin, cephalexin
❏ local crust removal
❏ careful hygiene to prevent spread
Complications
❏ local cellulitis
❏ post-streptococcal glomerulonephritis
SCABIES
❏ very itchy papules; hand and feet commonly involved
❏ track marks (S-shaped burrows)
❏ infants or immunosuppressed patients can get very severe
scabies (sparing of head and neck in adults)
❏ may have excoriations, honey-coloured crusts and pustules from secondary infection
Treatment
❏ premethrin (Nix) or gamma benzene hexachloride/lindane
❏ precipitated sulfur
❏ treat family and contacts
❏ antihistamine e.g. hydroxyzine (Atarax) or diphenhydramine (Benadryl)
ERYTHEMA MULTIFORME MINOR (80%)
❏ 1-2 cm erythematous papules; center clears to a purpuric or cyanotic
lesion i.e. target lesions
❏ symmetrical; common to dorsum of hands/feet, elbows, knees and face
❏ may have mild mucous membrane involvement
❏ no systemic signs
Pediatrics 52
MCCQE 2000 Review Notes and Lecture Series
Notes
DERMATOLOGY . . . CONT.
Etiology
❏ idiopathic (most common)
❏ infectious – HSV implicated
❏ drugs
Treatment
❏ attempt to identify agent, symptomatic
❏ no antihistamines, NSAIDs or salicylates necessary
Prognosis
❏ self-limited
ERYTHEMA MULTIFORME MAJOR
(STEVENS-JOHNSON SYNDROME) (20%)
❏ lesions of EM minor plus bullous lesion with mucous
membrane involvement (oral, nasal, conjunctival and genital)
❏ etiology: drugs (sulfa, phenytoin, penicillin, phenobarbital)
❏ may have non-specific viral prodrome
❏ treatment: supportive-IV fluids, analgesia, ophthalmology consult,
prophylactic antibiotics, systemic steroids controversial
PEDIATRIC EXANTHEMS
Table 20. Pediatric Exanthems
Disease
Incubation
Infectivity
Spread
Clinical S/SX
Complications
roseola
(HHV-6, others)
5-15 days
unknown
unknown
high fever
x 72 hours mild rash on
trunk after defervescence,
spreads to neck
febrile seizures
rubella
(rubivirus)
14-21 days
7 days
pre-rash and
5 days post
droplet
fever and 3 day
pink descending
maculopapular
rash, initially
discrete.
Sub-occipitallymphadenopathy
arthritis,
thrombocytopenia
(rare), encephalitis
(rare)
measles
(morbillivirus)
10-14 days
4 days
pre-rash
droplet
fever, cough,
coryza,
conjuctivitis
x 72 hours as
prodrome,
Koplik’s spots, then red
maculopapular confluent
rash (face to feet)
secondary bacterial
infection, acute otitis
media,
bronchopneumonia,
encephalitis, SSPE
varicella
10-21 days
1-2 days
pre-rash until
all vesicles
have crusted
droplet and
direct contact
prodrome
variable
from none
to low grade
fever and
malaise, maculopapular
rash on trunk progresses
to vesicles, then to crusts
pneumonia, encephalitis,
cerebellar ataxia, ITP,
dissemination and death
in immunosuppressed,
herpes zoster, Reye
syndrome
mumps
(paramyxovirus)
12-25 days
7 days
droplet
pre-parotitis,
7 days
post-parotitis
occasionally
abdominal pain
due to pancreatitis
uni- or bilateral
parotitis
+/– mild resp
symptoms
meningoencephalitis,
pancreatitis, orchitis,
sterility, labyrinthitis,
deafness
erythema
infectiosum
(parvovirus)
4-14 days
unknown
usually no
prodromal
symptoms,
sudden
appearance of
livid erythema on
cheeks, progressing
to macuopapular rash on
trunk and extremities, later
lacy appearance, duration
3-5 weeks
increased fetal wastage
in utero, aplastic crisis in
patients with chronic
hemolytic anemia
eg. sickle cell, arthritis,
vasculitis
MCCQE 2000 Review Notes and Lecture Series
?droplet
Pediatrics 53
Notes
CARDIOLOGY
HEART MURMURS
❏ 50-80% of children have audible heart murmurs at some point in their lives
❏ most murmurs are functional (i.e. "innocent") without associated
structural abnormalities
❏ murmurs can become audible or accentuated in high output states,
e.g. fever
Table 21. Differentiating Innocent and Pathological Heart Murmurs
Innocent
Pathological
history and physical
asymptomatic
symptoms and signs
of cardiac disease
timing
systolic ejection murmur
(except venous hum)
all diastolic, pansystolic
or continuous
grade
≤ 2/6
> 2/6
splitting
physiologic S2
fixed splitting or
single S2
extra sounds/clicks
none
present
change of position
murmur varies
unchanged
Table 22. Five Innocent Heart Murmurs
Type
Description
Differential Diagnosis
Still's murmur
vibratory, LLSB or apex
subaortic stenosis, small VSD
pulmonary ejection
soft, blowing, ULSB
ASD, PS
venous hum
infraclavicular hum,
continuous, R > L
PDA
supraclavicular
arterial bruit
low intensity, above clavicles
AS, bicuspid aortic valve
peripheral
pulmonic stenosis
neonates, low-pitched
radiates to axilla and back
PDA, PS
CONGENITAL HEART DISEASE
❏ 8/1000 live births, can present with heart murmur, heart failure, or cyanosis
❏ increased risk
• maternal factors
• diabetes, phenylketonuria
• medication, alcohol or drug use
• infection (e.g. rubella, CMV)
• infant factors
• prematurity (e.g. PDA)
• chromosomal abnormalities (e.g. Down syndrome)
• positive family history (2-4% risk if sibling affected)
❏ most common lesion: VSD
❏ congenital heart disease can be categorized as:
• L to R shunts: e.g. VSD, ASD, PDA, endocardial cushion defect
• cyanotic e.g. Tetralogy of Fallot, Transposition of Great Arteries (TGA)
• obstructive lesions: e.g. aortic stenosis, pulmonic stenosis,
coarctation of aorta, hypoplastic left heart syndrome
❏ subacute bacterial endocarditis (SBE) prophylaxis should be given to
all patients with congenital heart disease except those with an isolated
secundum ASD, corrected VSD or PDA without residua at greater than
6 months after repair, or mitral valve prolapse without mitral regurgitation
Pediatrics 54
MCCQE 2000 Review Notes and Lecture Series
Notes
CARDIOLOGY . . . CONT.
A
B
C
A. Atrial Septal Defect
B. Patent Ductus
Arteriorsus
C. Transposition of
Great Ateries
D. Ventricular Septal
Defect
E. Coarctation of the
Aorta
D
E
F
F. Tetralogy of Fallot
Figure 7. Common Congenital Heart Diseases
Drawing by Kevin Millar and Jacquelyn Shaw
LEFT TO RIGHT SHUNT LESIONS
❏ extra blood is displaced through a communication from the left to the right
side of the heart, resulting in increased pulmonary blood flow
❏ shunt volume dependent upon three factors: size of defect, pressure
gradient between chambers or vessels, peripheral outflow resistance
❏ untreated shunts can result in pulmonary vascular disease, RVH, and R to L shunts
Atrial Septal Defect (ASD)
❏ three types
• ostium primum - common in Down syndrome
• ostium secundum - most common type (50-70%)
• sinus venosus - defect located at entry of SVC into right atrium
❏ often asymptomatic in childhood
❏ murmur: often grade II-III/VI pulmonic outflow murmur with widely split
and fixed S2
❏ ECG: RAD, mild RVH, RBBB
❏ CXR: increased pulmonary vasculature
❏ natural history: 80-100% spontaneous closure rate if ASD diameter < 8 mm
❏ if remains patent, CHF and pulmonary HTN can develop in adult life
❏ management: elective surgical or catheter closure
(low risk procedures) between 2-5 years of age
Ventricular Septal Defect (VSD)
❏ most common congenital heart defect (30-50%)
❏ small VSD (majority)
• asymptomatic, normal growth and development
• murmur: early systolic to holosystolic, best heard at LLSB
• ECG and CXR are normal
• most close spontaneously, does not need surgical closure even
if remains patent
❏ moderate to large VSD
• delayed growth and development, decreased exercise
tolerance, recurrent URTIs or "asthma" episodes, CHF
• murmur: holosystolic at LLSB with thrill, mid-diastolic rumble at apex
• ECG: LVH, LAH, RVH
• CXR: increased pulmonary vasculature, cardiomegaly, CHF
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 55
Notes
CARDIOLOGY . . . CONT.
• natural history: secondary pulmonary HTN, CHF by 2 months of age
• management: treatment of CHF; surgical closure
Patent Ductus Arteriosus (PDA)
❏ patent vessel between descending aorta and pulmonary artery
❏ 5-10% of all congenital heart defects
❏ common in premature infants (1/3 of infants < 1750 grams)
❏ may be asymptomatic or have apneic or bradycardic spells, exertional dyspnea
❏ associated tachycardia, bounding pulses, hyperactive precordium,
wide pulse pressure
❏ murmur: continuous "machinery" murmur, best heard at left infraclavicular area
❏ ECG: may show LVH, RVH
❏ CXR: normal to mildly enlarged heart, increased pulmonary vasculature
❏ diagnosis by echocardiography
❏ natural history: spontaneous closure common in premature infants,
less common in term infants
❏ management: indomethacin, surgical ligation, or catheter closure
❏ high risk of SBE, antibiotic prophylaxis required until 6 months after closure
Endocardial Cushion Defect
❏ spectrum from endocardial cushion VSD and ostium primum ASD to
complete AV canal with common AV valve
❏ commonly associated with Down syndrome
❏ natural history depends on size of defect and valvular involvement
❏ complete AV canal require early complete surgical repair, preferably
before 3 months of age
CYANOTIC CONGENITAL HEART DISEASE
❏
❏
❏
❏
systemic venous return re-enters systemic circulation directly
most prominent feature is cyanosis (O2 sat < 75%)
differentiate between cardiac and other causes of cyanosis with hypoxia test
survival depends on mixing via shunts (e.g. ASD, VSD, PDA)
Transposition of the Great Arteries
❏ most common cardiac lesion in the cyanotic newborn
❏ aortic root arises anteriorly from the right ventricle and the main
pulmonary artery arises posteriorly from left ventricle, resulting in
parallel pulmonary and systemic circulations (Figure 8)
❏ newborn presents with progressive cyanosis unresponsive to oxygen
therapy as the ductus arteriosus closes and mixing between the two
circulations diminishs; severe hypoxemia, acidosis, and death can
occur rapidly
❏ if VSD present, cyanosis is not prominent, infant presents with CHF
after a few weeks of life
❏ murmur: none or grade II/VI SEM
❏ ECG: RAD, RVH
❏ CXR: egg-shaped heart with narrow mediastinum ("egg on a string")
❏ management:
• prostaglandin E1 infusion to keep ductus open
• balloon atrial septostomy with catheter
• surgical correction: arterial switch procedure
Systemic Circulation
RA
LA
RV
LV
Aorta
Pulmonary
Artery
Pulmonary Circulation
Figure 8. Parallel Circulations of TGA
Tetralogy of Fallot
❏ 10% of all congenital heart defects, most common cyanotic heart defect
beyond infancy
❏ embryologically a single defect with hypoplasia of the conus causing:
• VSD
• RV outflow tract obstruction (RVOTO)
Pediatrics 56
MCCQE 2000 Review Notes and Lecture Series
CARDIOLOGY . . . CONT.
❏
❏
❏
❏
❏
❏
❏
Notes
• overriding aorta
• RVH
direction and degree of shunt are functions of the relative outflow resistance
infants may initially have a left to right shunt and therefore are not
cyanotic but the RVOTO is progressive, resulting in increasing right to
left shunting with hypoxemia and cyanosis
“tet” spells
• caused by increased right to left shunting due to exercise or
crying which decreases systemic resistance
• paroxysm of rapid and deep breathing, irritability and crying
• increased cyanosis and decreased intensity of murmur
• peak incidence at 2-4 months of age
• if severe may lead to seizures, loss of consciousness, death (rare)
• management: oxygen, knee-chest position, morphine sulfate, propanolol
murmur: single loud S2 due to severe pulmonic stenosis
ECG: right axis deviation, RVH
CXR: boot shaped heart, decreased pulmonary vasculature, right aortic arch
management: surgical repair including closure of VSD and widening of RVOTO
Clinical Pearl
❏ Characteristic Chest X-Ray Findings in Congenital Heart Disease
Boot-Shaped Heart - Tetralogy of Fallot, tricuspid atresia
Egg-Shaped Heart - Transposition of Great Arteries
“Snowman” Heart - Total Anamolous Pulmonary Venous Return
OBSTRUCTIVE LESIONS
❏ present with pallor, decreased urine output, cool extremities and poor pulses
Coarctation of the Aorta
❏ narrowing of aorta almost always at the level of the ductus arteriosus
❏ commonly associated with bicuspid aortic valve (50%)
❏ if severe, presents with shock in the neonatal period when the ductus closes
❏ often asymptomatic with upper extremity systolic pressures of 140-145 mm Hg
❏ weak pulses, decreased blood pressure in lower extremities,
radial-femoral delay
❏ if associated with other lesions (e.g. PDA, VSD), can cause CHF
❏ murmur: absent or systolic with late peak at apex, left axilla, left back
❏ management: balloon arterioplasty or surgical correction
❏ complications: essential hypertension
Aortic Stenosis
❏ valvular (75%), subvalvular (20%), supravalvular and idiopathic
hypertrophic subaortic stenosis (IHSS) (5%)
❏ often asymptomatic but may be associated with CHF, exertional chest
pain, syncope or sudden death
❏ murmur: SEM at URSB with aortic ejection click at the apex
❏ management: surgical or balloon valvuloplasty, repeated interventions
and valve replacement may be necessary
❏ SBE prophylaxis and exercise restriction required
Pulmonary Stenosis
❏ valvular (90%), subvalvular or supravalvular
❏ usually part of other congenital heart lesions (e.g. Tetralogy of Fallot)
or in association with other syndromes (e.g. congenital rubella, Noonan syndrome)
❏ critical pulmonic stenosis: inadequate pulmonary blood flow,
dependent on ductus for oxygenation, progressive hypoxia and
cyanosis
❏ presentation varies from asymptomatic to CHF
❏ murmur: wide split S2 maximal on expiration, SEM at ULSB,
pulmonary ejection click
❏ ECG: RVH
❏ CXR: dilated poststenotic pulmonary artery
❏ management: balloon valvuloplasty
Hypoplastic Left Heart Syndrome
❏ a spectrum of hypoplasia of left ventricle, atretic mitral and/or aortic valves, small
ascending aorta, coarctation of the aorta with resultant systemic hypoperfusion
❏ most common cause of death from congenital heart disease in first month of life
❏ presents with circulatory shock and metabolic acidosis on closure of the ductus
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 57
Notes
CARDIOLOGY . . . CONT.
❏ management
• intubate and correct metabolic acidosis
• IV infusion of PGE1 to keep ductus open
• treatment options
• surgical correction (overall survival 50% to late childhood)
• transplantation
• no treatment
CONGESTIVE HEART FAILURE
Etiology
❏ congenital heart defects
❏ ateriovenous malformations
❏ cardiomyopathy
❏ arrhythmias
❏ acute hypertension
❏ anemia
❏ cor pulmonale
Pathophysiology
❏ see Cardiology Notes
Symptoms
❏ infant: feeding difficulties, easy fatigability, exertional dyspnea,
diaphoresis when sleeping or eating, respiratory distress, vomiting,
lethargy, cyanosis
❏ child: decreased exercise tolerance, fatigue, decreased appetite, failure to thrive,
respiratory distress, syncope, frequent URTIs or "asthma" episodes
❏ orthopnea, paroxysmal nocturnal dyspnea, edema are uncommon in children
Physical Findings
❏ four key features: tachycardia, tachypnea, cardiomegaly,
hepatomegaly (2 tachy’s, 2 megaly’s)
❏ failure to thrive
❏ respiratory distress, wheeze, crackles, cyanosis and clubbing
❏ alterations in peripheral pulses, four limb blood pressures
❏ dysmorphic features associated with congenital syndromes
Management
❏ general: sitting up, oxygen, sodium and water restriction, increased
caloric intake
❏ pharmacologic: diuretics, inotropic agents, afterload reduction
❏ correction of underlying cause
INFECTIVE ENDOCARDITIS
❏
❏
❏
❏
see also Cardiology Notes
10-15% of cases are culture negative
Osler's nodes, Janeway's lesions, splinter hemorrhages are late findings in children
antibiotic prophylaxis for prevention is necessary for all patients with:
• congenital heart disease (except for isolated secundum ASD)
• rheumatic valve lesions
• prosthetic heart valves
• surgical shunts
• previous endocarditis
• pacemaker leads
DYSRHYTHMIAS
❏ see also Cardiology Notes
❏ can be transient or permanent, congenital (structurally normal or
abnormal) or acquired (toxin, infection)
Sinus Arrhythmia
❏ phasic variations with respiration
❏ heard in almost all normal children
Premature Atrial Contractions
❏ may be normal variant or can be caused by electrolyte disturbance,
hyperthyroidism, cardiac surgery, digitalis toxicity
Pediatrics 58
MCCQE 2000 Review Notes and Lecture Series
Notes
CARDIOLOGY . . . CONT.
Premature Ventricular Contractions (PVCs)
❏ common in adolescents
❏ benign if single, uniform, disappear with exercise, no associated structural lesions
❏ if not benign, may degenerate into more severe dysrhythmias
Supraventricular Tachycardia (SVT)
❏ most frequent sustained dysarrhythmia in children
❏ not lifethreatening but can lead to symptoms
❏ caused by re-entry via accessory connection, AV node most common site
❏ characterized by a rate of greater than 210 bpm
❏ treatment: vagal manouver, adenosine, digoxin (except in WPW)
HEMATOLOGY
APPROACH TO ANEMIA
History
❏ acute anemia: poor exercise tolerance, headache, fatigue, syncope
❏ chronic anemia: usually well tolerated
❏ diet history; milk excess ––> iron deficiency anemia
❏ melena/hematochezia ––> blood loss ––> iron deficiency anemia
❏ family history of cholecystectomy or splenectomy ––> hereditary
hemolytic disorder
❏ ethnic origin ––> thalassemia, sickle cell anemia
❏ exposure to oxidant drugs (sulpha drugs) ––> G6PD deficiency
❏ underlying chronic illness (renal, hepatic, inflammatory)
❏ social history ––> lead intoxication increased in older housing
Physical Exam
❏ heart rate, blood pressure, orthostatic changes
❏ flow murmur, pallor, level of activity
❏ jaundice ––> hemolysis
❏ petechiae, purpura ––> bleeding tendency
❏ hepatomegaly, splenomegaly ––> infiltrative disorder
❏ failure to thrive ––> chronic disease, organ failure
❏ stool ––> occult blood
Table 23. Differential Diagnosis of Anemia
microcytic
• iron deficiency
- blood loss or dietary lack
• thalassemia trait
• chronic inflammation
• sideroblastic anemia
• lead poisoning
normocytic
low reticulocyte count
• bone marrow infiltration
• transient erythroblastopenia
of childhood
• chronic disease
• aplastic crisis
macrocytic
• folic acid deficiency
• vitamin B12 deficiency
• hypothyroidism
• liver disease
high reticulocyte count
• blood loss
• hemolysis
• extrinsic
- antibody-mediated
- fragmentation: DIC, HUS, heart valve
• intrinsic
- membrane disorders: spherocytosis
- enzyme deficiencies: G6PD
- hemoglobin disorders: thalassemia
PHYSIOLOGIC ANEMIA
❏ elevated hemoglobin (> 170 g/L) and reticulocyte count at birth
result of relatively hypoxic environment in utero
❏ after birth, levels start to fall due to shorter RBC lifespan,
decreased RBC production, and increasing blood volume
secondary to growth
❏ lowest levels at 6-12 weeks age (earlier in premature infants),
about 100 g/L, levels rise again after 3 months
❏ no treatment required if asymptomatic
IRON DEFICIENCY ANEMIA
❏ most common cause of childhood anemia (see Colour Atlas E1)
❏ premature infants at increased risk - low iron stores at birth
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 59
Notes
HEMATOLOGY . . . CONT.
Etiology
❏ dietary, typically between 6-24 months age, particularly in bottlefed
infants receiving large volumes of cow's milk
❏ blood loss or malabsorption
❏ beware iatrogenic blood loss through repeated blood sampling
(especially in neonates)
❏ cow's milk/cow’s milk-based formula may result in blood loss and
protein-losing enteropathy secondary to GI inflammation
Prevention
❏ for breast-fed infants after 6 months, give iron-fortified cereals and
iron-rich foods
❏ if not breast fed, give iron-fortified formula from birth
❏ premature infants should start iron supplements at 6-8 weeks of age
and continue until 1 year old
Management
❏ determine cause
❏ oral iron therapy - black stools suggest compliance
• subjective improvement in 24-48 hours
• increased reticulocyte count in 48-72 hours
• increased hemoglobin in 4-30 days
• repletion of iron stores in 1-3 months
SICKLE CELL DISEASE
❏ describes syndrome of hemoglobin SS, S-C and rare variants
❏ identification of specific genotypes important due to differences in
frequency, type, and severity of clinical complications
Pathophysiology
❏ red blood cells sickle with low pO2, dehydration, fever, acidosis
❏ acute intravascular sickling results in infarction of tissue
❏ hemolysis causes chronic, well-compensated, severe anemia; not
routinely transfusion dependent (see Colour Atlas E5)
❏ increased incidence in Blacks and Mediterraneans
Presentation
❏ trait —> asymptomatic ± microscopic hematuria
❏ disease —> after 6-9 months age with fall in fetal Hgb, anemia, jaundice, splenomegaly
Types of Crises (usually have more than 1 crisis by age 1)
❏ vaso-occlusive crises - in any organ, most commonly in long bones of
arms and legs, chest, abdomen, CNS, dactylitis (swollen hands and
feet) in young children
❏ aplastic crisis - transient RBC aplasia after parvovirus B19 infection of
red cell precursors in bone marrow
❏ splenic sequestration - sickling in spleen, large pooling of blood with
acute fall in hemoglobin, shock
Functional Asplenia
❏ splenic dysfunction as early as 4 months, usually by 5 years
❏ susceptible to infection by encapsulated organisms, especially
Streptococcus pneumoniae
❏ requires prophylactic oral penicillin daily, pneumococcal vaccine, and
immediate evaluation of fever
Management
❏ acute
• supportive and symptomatic
• fluids, analgesia, exchange transfusions
• oxygen if respiratory distress or chest crisis
• incentive spirometry
❏ chronic
• early aggressive treatment of infections, prophylactic antibiotics
• pneumococcal, meningococcal, H. influenzae, Hepatitis B, and influenza vaccines
• folate supplementation
• hydroxyurea
• chronic transfusion program if history of stroke
• genetic counselling and education
Pediatrics 60
MCCQE 2000 Review Notes and Lecture Series
Notes
HEMATOLOGY . . . CONT.
SPHEROCYTOSIS
❏ red cell membrane disorder, causes a sphering of red blood cells
which are removed by the spleen (see Colour Atlas E16)
❏ genetics
• autosomal dominant
• may have positive family history but high spontaneous mutation rate
❏ clinical severity can range from well-compensated, mild hemolytic
anemia to severe hemolytic anemia with growth failure, splenomegaly,
and chronic transfusion requirements in infancy
❏ management
• splenectomy as needed
• genetic counselling
GLUCOSE-6-PHOSPHATE DEHYDROGENASE
(G6PD) DEFICIENCY
❏ X-linked recessive, different variants of the disease
❏ higher prevalence in Mediterraneans, Blacks, Orientals
❏ enzyme deficient red blood cells are unable to defend against oxidant
stress (infection, drugs) and forms Heinz bodies (denatured
hemoglobin) which are phagocytosed by splenic macrophages,
creating "bites" on cells
❏ presents with acute hemolytic anemia with jaundice and dark urine
❏ management: supportive, hydration, transfusion, phototherapy
❏ prevention: avoid known oxidants e.g. fava beans, ASA, antimalarials,
sulfonamides, infections
BLEEDING DISORDERS (see Hematology Notes)
Coagulation Defects
❏ characterized by deep bleeding into joints and muscles
❏ large spreading ecchymotic lesions and hematoma
Platelet Abnormalities
❏ characterized by petechiae, purpura, bruises, mucocutaneous
bleeding, bleeding from superficial cuts (i.e. epitaxis, gum bleeding
menorrhagia)
Table 23. Classification of Bleeding Disorders
Blood Vessels
Platelets
Coagulation Pathway
Mechanism
Examples
vasculitis
HSP
low production
drugs, marrow infiltration, leukemia
high destruction
ITP, infection, drugs
high consumption
DIC, giant hemangioma, hypersplenism
dysfunctional
vW disease, drugs (ASA), uremia
Vitamin K deficiency
hemorrhagic disease of newborn
Factor VIII deficiency
Hemophilia A
Factor IX deficiency
Hemophilia B
abnormal vWF
vonWillebrand's disease
Immune Thrombocytopenia Purpura of Childhood (childhood ITP)
❏ peak age: 2-6 years, M=F
❏ usually follows an acute viral infection, rarely a presenting symptom of
autoimmune disease e.g. SLE
❏ caused by antibodies that bind to platelet membranes
❏ splenic destruction of antibody-coated platelets
❏ typically presents 1-4 weeks after viral illness with sudden onset of
petechiae, purpura, epitaxis in an otherwise well child
❏ self-limited in children; spontaneous recovery in 80% of cases
❏ differential diagnosis: drug-induced thrombocytopenia, HIV, leukemia,
infection (viral), SLE
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 61
Notes
HEMATOLOGY . . . CONT.
❏
❏
❏
❏
clinically: no lymphadenopathy, no hepatosplenomegaly
labs: thrombocytopenia with normal RBC, WBC
if atypical presentation, do bone marrow to rule out leukemia
management: consider prednisone or IVIG if clinically bleeding or
severe thrombocytopenia, splenectomy only for life-threatening bleeding
Neonatal Thrombocytopenia
❏ transplacental passage of maternal antiplatelet antibodies
❏ two types
• neonatal alloimmune thrombocytopenia (NAIT)
• mother mounts immune response against antigens
on fetal platelets
• suspect in thrombocytopenic newborn who is otherwise
well, normal maternal platelets, no history of maternal
autoimmune disease or ITP
• diagnosis: maternal serum (with immunoglobulins)
reacts with father or child’s platelets
• treatment: transfusion of infant with washed maternal
platelets
• neonatal ITP
• caused by antiplatelet antibodies from maternal ITP
• similar presentation to NAIT but must distinguish, if
infant is transfused with maternal platelets, the
transfused platelets will also be destroyed
• treatment: steroids to mother x 10-14 days prior to
delivery or IVGG to mother defore delivery or to infant
after delivery
Hemorrhagic Disease of the Newborn
❏ caused by vitamin K deficiency
❏ factors II, VII, IX, X are vitamin K-dependent, therefore both PT and
PTT are abnormal
❏ presents at 2-7 days of life with generalized ecchymoses, GI
hemorrhage, bleeding from a circumcision or umbilical stump
❏ prevention: vitamin K administration at birth to all newborns
Hemophilia A: Factor VIII Deficiency
❏ X-linked recessive, 5 times more common than Hemophilia B
❏ lack of factor VIII delays formation of thrombin which is crucial to
forming a normal, functional fibrin clot and solidifying the platelet plug
at areas of vascular injury
❏ severity determined by level of factor VIII, severity of bleeds, and
presence of antibodies to factor VIII
• severe hemophilics (<1% factor VIII) have spontaneous bleeding
or bleeding from minor trauma and manifests in infancy, hallmark:
hemarthrosis
• mild hemophilics (>5% factor VIII) have bleeding with significant
trauma (e.g. surgery) and may go undiagnosed for many years
❏ DDAVP for mild disease, factor VIII replacement
Hemophilia B (Christmas Disease): Factor IX Deficiency
❏ X-linked recessive, treated with factor IX replacement or plasma
❏ presentation same as Hemophilia A
von Willebrand's Disease
❏ defect: variable abnormality in von Willebrand factor (vWF)
❏ vWF is an adhesive protein that bridges subendothelial collagen and
platelets, and protects factor VIII from rapid clearance
❏ autosomal dominant (more common, mild) or autosomal recessive
(rarer, more severe)
❏ presents with mucocutaneous bleeding, epistaxis, gingival bleeding,
ecchymosis, menorrhagia
❏ abnormal PTT and bleeding time
❏ DDAVP for mild disease (increases release of vWF), cryoprecipitate
Pediatrics 62
MCCQE 2000 Review Notes and Lecture Series
Notes
HEMATOLOGY . . . CONT.
Table 24. Evaluation of the Child with Abnormal Bruising/Bleeding
BT
PT
PTT
VIII:C
vWF
Platelets
Fibrinogen
hemophilia A
N
N
9
N
N
N
hemophilia A
N
N
8
8
N
N
N
N
vonWillebrand’s
8
N
N or 8
9
N
N
N or 8
8
8
9
9
N
9
9
N
N
N
N
N
N
N
9
N
DIC
vit K deficiency
N
8
8
thrombocytopenia
8
N
BT=bleeding time, VIII:C=factor VIII coagulant activity
❏ extensive bruising in the absence of lab abnormalites: consider child abuse
ONCOLOGY
❏ cancer is second most common cause of death in children after 1 year
of age (#1=injuries)
❏ usually occur sporadically, but increased risk with
• neurocutaneous syndromes
• chromosomal syndromes
• immunodeficiency syndromes
• prior malignancy
• family history
• exposure to radiation, chemicals, biologic agents
❏ leukemia (25-35%) and brain tumours (20%) most common
❏ some malignancies may be more prevalent in certain age groups
• newborns: neuroblastoma, congenital leukemia
• infancy and childhood: leukemia, neuroblastoma, Wilms’,
retinoblastoma
• adolescence: lymphoma, gonadal tumours, bone
LEUKEMIA
❏ most common childhood malignancy
❏ heterogenous group of diseases; types: ALL (80%), AML (15%) and CML (5%)
❏ etiology unknown; EBV associated with African Burkitt lymphoma,
retrovirus with T cell leukemia
❏ signs and symptoms due to infiltration of leukemic cells into bone marrow
(bone pain, anemia, neutropenia, thrombocytopenia) and into tissues
(lymphadenopathy, hepatosplenomegaly, CNS, testes)
❏ prognosis: low-risk - 90% long-term remission, high-risk - 70% long-term remission
❏ see also Hematology Notes
Table 25. Prognostic Indicators in Childhood Acute
Lymphocytic Leukemia
age
ethnicity
sex
lymphadenopathy
hepatosplenomegaly
mediastinal mass
initial WBC
hemoglobin
LDH
lymphoblasts
hyperploidy
translocation
Good
Poor
2-10 years
white
female
no
no
no
< 20 x 109/L
> 100 g/L
low
typical
yes
no
<2 or >10 years
black
male
yes
yes
yes
> 20 x 109/L
< 100 x g/L
high
undifferentiated
no
yes
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 63
Notes
ONCOLOGY . . . CONT.
LYMPHOMA
❏ third most common childhood tumour
❏ Hodgkin’s lymphoma
• older children (age > 15), similar to adult Hodgkin’s
• presents with painless, firm lymphadenopathy
• B symptoms only in 30% of children
❏ Non-Hodgkin’s lymphoma
• younger children (7-11 years)
• rapidly growing tumour with distant metastases
• signs and symptoms related to disease site, most commonly
abdomen, chest (mediastinal mass), head and neck region
❏ see also Hematology Notes
BRAIN TUMOURS
❏ predominantly infratentorial involving cerebellum, midbrain, brainstem
❏ glial (astrocytomas most common) or primitive neuroectodermal
(medulloblastoma, germ cell tumours, ependymothera)
❏ signs and symptoms
• infratentorial: vomiting, morning headache, increased head circumference,
ataxia, diplopia, nystagmus, papilledema
• supratentorial: focal deficits, seizure, long tract signs
❏ evaluation
• history, physical exam including complete neurological exam
• CT and/or MRI of head as indicated
❏ see also Neurosurgery Notes
WILMS’ TUMOUR (NEPHROBLASTOMA)
❏
❏
❏
❏
❏
❏
❏
❏
mean age at diagnosis 3-3 1/2 years, M=F
5% of all childhood cancers
1/3 hereditary and 2/3 sporadic
associated with a number of congenital abnormalities: sporadic
anridia (often with 11p13 deletion), hemihypertrophy, genitourinary
abnormalities
presentation
• 80% with asymptomatic abdominal mass
• hypertension, hematuria
differential diagnosis: hydronephrosis, polycystic kidney, renal cell
carcinoma, neuroblastoma, lymphoma
management
• nephrectomy
• staging
• chemotherapy (pre- or post-op)
• radiation
generally good prognosis
NEUROBLASTOMA
❏ neural crest cell tumour arising from sympathetic tissues of the
adrenal medulla (45%) or the sympathetic chain (25% retroperitoneal,
20% posterior mediastinal, 4% pelvis, 4% neck)
❏ most common malignancy in infancy, median age of onset 20 months
Presentation
❏ abdominal mass (most common), neck mass, chest mass (may be
incidental finding on chest x-ray)
❏ direct extension: spinal cord compression, Horner syndrome
❏ metastases:periorbital ecchymosis, bone pain, hepatomegaly,
“blueberry muffin” skin nodules
❏ paraneoplastic: hypertension, diarrhea (VIP secretion), opsoclonus, myoclonus
Diagnosis and Staging
❏ LFTs, renal function tests, serum ferritin
❏ VMA, HVA urine
❏ CT scan chest, abdomen
❏ bone scan
❏ bone marrow exam - for neuroblastoma cells in "rosettes"
❏ tissue biopsy
Management
❏ surgery, radiation, chemotherapy
❏ +/– bone marrow transplantation
Pediatrics 64
MCCQE 2000 Review Notes and Lecture Series
Notes
ONCOLOGY . . . CONT.
Good Prognostic Factors
❏ < 1 year old
❏ female
❏ primary site - posterior mediastinum and neck
❏ stage I, II, IVS disease
❏ low serum ferritin
❏ VMA/HVA ratio > 1
❏ aneuploidy
❏ no N-myc oncogene amplification
RHEUMATOLOGY
EVALUATION OF LIMB PAIN
History
❏ pain: onset, duration, location, character, intensity, frequency,
aggravating/alleviating factors, limitations in daily activity
❏ trauma, injury
❏ morning stiffness, limp, swelling/redness of joints
❏ general: fever, rash, fatigue, weight loss, cough, chest pain, hair loss
❏ family history: arthritis, psoriasis, IBD, bleeding disorders
Physical Exam
❏ complete physical exam
❏ all joints: inspection, palpation, range of motion
❏ gait, leg length discrepency
❏ tenderness on tendons or tendon insertion sites
❏ muscle weakness or atrophy
Investigations
❏ CBC, differential, smear, ESR
❏ X-rays of painful joints/limbs
❏ as indicated: ANA, RF, PTT, sickle cell prep, viral serology,
immunoglobulins, complement, urinalysis, synovial analysis and culture
Table 26. Differential Diagnosis of Limb Pain
Cause
< 3 years
3-10 years
trauma
x
x
x
infection
septic arthritis
osteomyelitis
x
x
x
x
x
x
x
x
x
inflammatory
transient synovitis
JRA
seronegative spondyloarthropathy
SLE
dermatomyositis
Henoch-Schonlein Purpura
x
x
anatomic/orthopedic
Legg-Calve-Perthes disease
slipped capital femoral epiphysis
> l0 years
x
x
x
x
x
x
neoplastic
leukemia
neuroblastoma
bone tumours
x
x
x
x
x
x
x
x
hematologic
hemophilia
sickle cell anemia
x
x
x
x
x
x
pain syndromes
growing pains
fibromyalgia
reflex sympathetic dystrophy
MCCQE 2000 Review Notes and Lecture Series
x
x
x
Pediatrics 65
Notes
RHEUMATOLOGY . . . CONT.
GROWING PAINS
❏ age 2-12 years, M=F
❏ pain
• poorly localized affecting shins, rarely calves
• usually bilateral
• occurs in evening or awakens child at night
• responds to reassurance, massage or analgesics
• resolves completely in the morning
❏ no associated systemic symptoms (e.g. fever)
❏ normal physical examination
❏ lab investigations not necessary if typical presentation
JUVENILE RHEUMATOID ARTHRITIS (JRA)
❏ a heterogenous group of conditions characterized by a persistent
arthritis in childhood
❏ diagnosis
• arthritis in at least one joint
• lasts for at least 6 weeks
• onset before the age of 16
• other causes of arthritis excluded
❏ classification
• defined by features/number of joints affected in the first
6 months of onset
• systemic onset - fever at onset with arthritis appearing after
• pauciarticular - 4 or less joints involved
• polyarticular - 5 or more joints involved
❏ prognosis: ultimately good, 80% have good outcome, worst prognosis
with systemic onset and polyarticular course
Table 26. Juvenile Arthritis Classification
Systemic
Pauciarticular
Polyarticular
Type I
Type II
RF neg
RF pos
sex predominance
M=F
80% F
90% M
90% F
80% F
age of onset
any
<5
>8
<5
>8
Rheumatoid factor
neg
neg
neg
neg
100%
ANA
neg
60%
neg
25%
75%
HLA-B27
neg
neg
75%
neg
neg
eye involvement
neg
20%
neg
10-20%
neg
% of patients
20
30
15
25
10
Systemic (Still's Disease)
❏ high spiking fever (≥ 38.5˚C) for at least 2 weeks
❏ extra-articular features: erythematous “salmon-coloured”
maculopapular rash, lymphadenopathy, hepatosplenomegaly,
leukocytosis, thrombocytosis, anemia, serositis (pericarditis, pleuritis)
❏ arthritis may occur weeks to months later
Pauciarticular Type I
❏ most common subtype, peak age 2 years
❏ usually involves large joints: knee, ankle or elbow, rarely shoulder or hip
❏ often resolves without permanent sequelae
❏ prone to chronic iridocyclitis and uveitis, which, if untreated,
may lead to permanent visual damage
❏ slit lamp exam should be done early in child presenting
with joint swelling and then every 3 months if ANA positive
Pauciarticular Type II
❏ at onset, there is an asymmetrical peripheral arthritis usually
confined to joints below the waist (hip, knees, ankles, feet)
❏ enthesitis (inflammation at tendon insertion sites) of Achilles tendon,
patellar tendon, plantar fascia
❏ seronegative spondyloarthropathy may develop later in life
❏ family history of spondyloarthropathy, IBD or psoriasis
Pediatrics 66
MCCQE 2000 Review Notes and Lecture Series
RHEUMATOLOGY . . . CONT.
Notes
Polyarticular RF Negative
❏ often involves small joints of hands and feet, temporomandibular
joint, sternoclavicular joint, distal interphalangeal joints, cervical spine
❏ patients who are ANA positive are prone to chronic uveitis
Polyarticular RF Positive
❏ similar to the aggressive form of adult rheumatoid arthritis
❏ severe, rapidly destructive, symmetrical arthritis of large and small joints
❏ associated with rheumatoid nodules at pressure points (elbows, knees)
❏ unremitting disease, persists into adulthood
Management
❏ children may complain very little about their pain and disability
❏ can develop contractures from guarding and disuse requiring night
splints and aids
❏ exercise to maintain ROM and muscle strength
❏ multidisciplinary approach with OT/PT, social work, orthopedics,
ophthalmology, rheumatology
❏ Ist line drug therapy: NSAIDs (naproxen, indomethacin available as
suspensions)
❏ other options
• methotrexate
• corticosteroids - intra-articular, systemic, or topical eye drops
• hydrochloroquine
• IV gammaglobulin
HENOCH-SCHÖNLEIN PURPURA
❏
❏
❏
❏
most common vasculitis of childhood
peak incidence 4-10 years, M > F
often have history of URTI 1-3 weeks before onset of symptoms
features
• skin: palpable, non-thrombocytopenic purpura in lower extremities
and buttocks, edema, scrotal swelling
• joints: arthritis/arthralgia involving large joints
• GI: abdominal pain, GI bleeding, intussusception
• renal: IgA nephropathy, hematuria, proteinuria, hypertension,
acute renal failure in <5%, progressive renal failure in another 5%
❏ management
• symptomatic, corticosteroids may relieve abdominal pain and edema
• monitor for renal disease, may last a few years
❏ prognosis: self-limited disease in 90%
KAWASAKI DISEASE
❏ acute vasculitis of unknown etiology
❏ most common cause of acquired heart disease in children
❏ peak age < 5 years, Orientals > Blacks > Causasians, M > F
Diagnostic Criteria
❏ fever persisting 5 days or more and
❏ 4 of the following 5 features
• bilateral nonpurulent conjunctivitis
• red fissured lips, strawberry tongue, erythema of oropharynx
• changes of the peripheral extremities
• acute phase: erythema, edema of hands and feet, groin peeling
• subacute phase: peeling from tips of fingers and toes
• polymorphous rash
• cervical lymphadenopathy > 1.5 cm in diameter
❏ exclusion of other diseases e.g. scarlet fever, measles
❏ atypical Kawasaki disease: less than 5 of 6 diagnostic features but
coronary artery involvement
Associated Features
❏ anterior uveitis
❏ irritability, aseptic meningitis
❏ diarrhea, abdominal pain, mild hepatitis, gall bladder hydrops
❏ sterile pyuria
❏ arthritis, serous otitis media, pneumonia
❏ pericarditis, myocarditis, arrhythmias
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 67
Notes
RHEUMATOLOGY . . . CONT.
Complications
❏ coronary artery vasculitis with aneurysm formation during subacute phase
❏ occurs in 20-25% of untreated children, 4-8% if receive IVGG within 10
days of fever onset
❏ risk factors for coronary disease: male, age < 1 or > 9 years, fever >10 days
❏ of those with aneuryms: 50% of aneurysms regress within 2 years, 20%
develop stenosis with risk of MI
❏ children may have endothelial dysfunction with risk of early CAD
Management
❏ IV gammaglobulin (2 g/kg)
❏ high (antiinflammatory) dose of ASA while febrile
❏ low (antiplatelet) dose of ASA in subacute phase
❏ follow up with periodic 2D-echocardiograms
ENDOCRINOLOGY
DIABETES MELLITUS (see Endocrinology Notes)
Type I Diabetes
❏ insulin dependent, most common type in childhood
❏ prevalence: 1 in 500 children under 18 years of age
❏ etiology: genetic predisposition and environmental trigger leading to
autoimmune destruction of the pancreas
❏ classic presentation: polyuria, polydipsia, polyphagia, weight loss;
25% present in diabetic ketoacidosis
❏ management
• insulin, blood glucose monitoring
• young children more susceptible to CNS damage with
hypoglycemia with fewer benefits from tight control,
hence target glucose range higher at 6-12 mmol/L
• increasingly tighter control in older children, 4-8 mmol/L
• diet, exercise
• education, psychosocial support
❏ complications
• hypoglycemia
• cause: missed/delayed meals, excess insulin, increased exercise
• complications: coma, seizures
• hyperglycemia
• cause: infection, stress, diet-to-insulin mismatch
• complications: risk of diabetic ketoacidosis, long-term complications
• diabetic ketoacidosis
• cause: new-onset diabetes, missed insulin doses, infection
• complications: dehydration, cerebral edema, decreased
level of consciousness
• long-term complications usually not seen in childhood
• present 10-20 years after onset, related to metabolic
control (HbA1c)
• retinopathy, nephropathy, neuropathy
HYPOTHYROIDISM
❏ see also Endocrinology Notes
Congenital Hypothyroidism
❏ incidence: 1 in 4000 births
❏ usually caused by dysgenetic (agenesis or ectopic) malformation of the
thyroid gland
❏ diagnosis through routine neonatal screening
❏ usually asymptomatic in neonatal period but may have:
• prolonged jaundice
• constipation
• sluggish, coarse cry, lethargy, poor feeding
• big tongue, coarse facial features, large fontenelle, umbilical hernia
Pediatrics 68
MCCQE 2000 Review Notes and Lecture Series
Notes
ENDOCRINOLOGY . . . CONT.
❏ prognosis
• excellent if treatment started within 1-2 months of birth
• if treatment started after 3-6 months of age may result in
developmental delay
❏ management: thyroxine replacement
Acquired Hypothyroidism
❏ most common: Hashimoto's thyroiditis (autoimmune destruction of the thyroid)
❏ signs and symptoms similar to hypothyroidism in adults, but also:
• delayed bone age, decline in growth velocity, short stature
• precocious puberty
• does not cause permanent developmental delay
HYPERTHYROIDISM (see Endocrinology Notes)
Congenital Hyperthyroidism
❏ results from transplacental passage of maternal thyroid stimulating
antibodies (mother with Grave’s)
❏ clinical manifestations in the neonate may be masked by
transplacental maternal antithyroid medication
❏ presents with tachycardia with CHF, irritability, craniosynostosis, poor
feeding, FTT
❏ spontaneous resolution by 2-3 months of life as antibodies cleared
❏ management: propylthiouracil until antibodies cleared
Grave’s Disease
❏ F:M = 5:1, peak incidence in adolescence
❏ results from thyroid stimulating antibodies as with adult Grave’s
❏ may exhibit classic signs and symptoms of hyperthyroidism, but also:
• personality changes
• school difficulty
• mood instability
❏ management similar to adults: anti-thyroid drugs (propylthiouracil),
radioiodine reserved for older teens, surgical thyroidectomy
Clinical Pearl
❏ Children with a solitary thyroid nodule require prompt
evaluation as 30-40% have carcinoma. Rest have
adenoma, abscess, cyst or multinodular goiter
NORMAL SEXUAL DEVELOPMENT
❏ wide range of age of onset and development of puberty
❏ females
• age 9 - 13
• sequence begins with breast bud, mean age at menache = 12.8 years
❏ males
• age 10 - 14
• sequence begins with testicular enlargement
Table 27. Tanner Staging
female
stage
male
breast
pubic hair
genitalia
pubic hair
1
–
–
–
–
2
bud
sparse
labial hair
scrotal/testes
enlargement
sparse hair at
base of penis
3
single contour
hair over
pubis
increase in
length of penis
hair over
pubis
4
nipple forms
secondary
mound
coarse
adult hair
further increase
in length and
breadth of penis
coarse
adult hair
5
adult size
and shape
extends to
medial thigh
adult size
and shape
extends to
medial thigh
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 69
Notes
ENDOCRINOLOGY . . . CONT.
PRECOCIOUS PUBERTY (see Gynecology Notes)
❏ secondary sexual development before 8 years in girls, 9 years in boys
True (Central) Precocious Puberty
❏ premature activation hypothalamic-pituitary-gonadal axis
❏ hypergonadotropic hypergonadism, hormone levels as in normal puberty
❏ nine times more common in females than males
❏ differential diagnosis
• idiopathic or constitutional (most common, especially females)
• CNS tumours, hamartomas, postmeningitis, increased ICP, radiotherapy
• neurofibromatosis, hypothyroidism
Peripheral Precocious Puberty
❏ hypogonadotropic hypergonadism
❏ differential diagnosis
• congenital adrenal hyperplasia, adrenal neoplasm
• testicular/ovarian tumour
• gonadotropin secreting tumour: hepatoblastoma, intracranial teratoma
• exogenous steroid administration
Evaluation
❏ history: symptoms of puberty, family history of puberty onset, medical illness
❏ physical exam: growth velocity, Tanner staging, neurological exam
❏ hormone levels: estradiol, testosterone, LH, FSH, TSH, GnRH test
❏ bone age
❏ consider CT or MRI of head, ultrasound of adrenals, pelvis
Management
❏ GnRH analogs, medroxyprogesterone
❏ treat underlying cause
Benign Premature Thelarche
❏ isolated breast tissue development in girls age 6 months to 3 years
❏ no other signs of puberty or excessive estrogen effect
❏ may be due to increased sensitivity to estrogen or temporary increase
in estrogen levels
❏ normal bone age and adrenal androgens
❏ evaluate every 6-12 months to ensure no further signs of puberty
Isolated Premature Adrenarche
❏ appearance of secondary hair before age 8 in females, age 9 in males
❏ relatively common, caused by premature increase in adrenal androgens
❏ presence of other features of virilization (clitoral enlargement,
advanced bone age) or other signs (acne, rapid growth, voice change)
requires detailed investigation for pathologic cause
❏ reassurance, no treatment required
DELAYED PUBERTY
❏ see Gynecology section
❏ absence of pubertal development by age 13 in girls and age 14 in boys
❏ more common in males
Central Causes
❏ delay in activation of hypothalamic-pituitary-gonadal axis
❏ hypogonadotropic hypogonadism
❏ differential diagnosis
• constitutional (bone age delayed) – most common (> 90%)
• chronic disease, anorexia nervosa, malnutrition
• pituitary/hypothalamic failure (idiopathic or acquired)
• genetic (e.g. Kallman’s symdrome)
• hypothyrodism
Peripheral Causes
❏ hypergonadotropic hypogonadism
❏ differential diagnosis
• genetic (e.g. Turner’s, Kleinfelter’s)
• gonadal damage – infection, radiation, trauma
• gonadal dysgenesis
• hormonal defect – androgen insensitivity, 5-reductase deficiency
Pediatrics 70
MCCQE 2000 Review Notes and Lecture Series
Notes
ENDOCRINOLOGY . . . CONT.
Evaluation
❏ history: weight loss, short stature, family history of puberty onset, medical illness
❏ physical exam: growth velocity, Tanner staging, neurological exam,
complete physical exam
❏ hormone levels: estradiol, testosterone, LH, FSH, TSH, GnRH test
❏ bone age
❏ consider CT or MRI of head, ultrasound of adrenals, pelvis
❏ karyotype in girls < 3rd percentile in height (rule out Turner’s)
Management
❏ identify and treat underlying cause
❏ hormonal replacement: cyclic estradiol and progesterone for females,
testosterone for males
GENITOURINARY
HEMATURIA
Asymptomatic Microscopic Hematuria
❏ 5% of school aged children on single test but < 1% on repeated testing
❏ usually found on routine screening
❏ 5-10 RBCs per hpf of centrifuged urine; dipsticks are very
sensitive but have a high false positive rate
❏ benign recurrent hematuria in 2/3 of cases
• sporadic or familial
• no associated proteinuria
Gross Hematuria
❏ upper urinary tract source
• cola/tea-coloured urine, casts, proteinuria, dysmorphic RBC's,
associated symptoms (i.e. edema, azotemia, HTN)
❏ lower urinary tract source
• bright red urine, initial and terminal stream hematuria, clots,
normal RBC morphology, < 2+ proteinuria, no casts
❏ very large renal bleeding can look like a lower urinary tract bleed
dipstick, microscopy
Negative, no RBCs
Positive, but no RBCs
coloured urine
(e.g. beets, lead,
rifampin, urates,
nitrofurantoin, ibuprofen...)
Positive, RBCs seen
Hemoglobinuria
• intravascular hemolysis
• intravascular coagulation
Myoglobinuria
• rhabdomyolysis
No Casts seen
❏ bleeding source distal to
glomerulus and tubules
e.g. UTI, nephrolithiasis, HSP,
❏ sickle cell disease
❏ exercise, trauma
❏ coagulopathy
Casts seen
(look to edge of slide)
❏ Glomerular
• 1º glomerulopathy
IgA nephropathy, post-infectious nephritis, MPGN
anti-glomerular BM disease, benign familial hematuria
• 2º glomerulopathy (eg. HSP, SLE)
❏ Tubulointerstitial
• e.g. ATN, interstitial nephrititis,
pyelonephritis, hypercalciuria
Figure 13. Causes of Gross Hematuria in Children
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 71
Notes
GENITOURINARY . . . CONT.
PROTEINURIA
❏ definition: qualitative: 1+ on dilute, 2+ on concentrated urine (specific
gravity>1.015); quantitative: 4mg/kg/h on timed urine (>40 mg/kg/hr is
nephrotic range)
❏ transient: due to fever, dehydration, exercise, seizures, stress
❏ persistent
• orthostatic (more common in adolescents)
• increased plasma protein concentration
• glomerular (e.g. nephrotic syndrome, glomerulonephritis)
• tubulointerstitial (e.g. Fanconi's syndrome, ATN)
• structural abnormalities of urinary tract
(e.g. hydronephrosis)
HEMOLYTIC UREMIC SYNDROME
❏ acquired renal insufficiency
❏ triad: nephropathy, thrombocytopenia, microangiopathic
hemolytic anemia
❏ more common from 6 months to 4 years old
❏ etiology: E. coli toxin O157:H7 verotoxin or Shigella toxin (“hamburger
disease”) causes endothelial damage
❏ prodrome of bloody diarrhea 5-7 days before onset of renal insufficiency
❏ history – weakness, lethary, oliguria
❏ physical exam – pallor, jaundice (hemolysis), edema, petechiae,
hepatosplenomegaly, hypertension
❏ investigations – CBC, platelets, reticulocytes, blood smear, Coombs,
urinalysis, renal function
❏ prognosis: 5-10% mortality, 10-30% kidney damage
❏ supportive treatment, dialysis if severe; steroids not helpful
NEPHRITIC SYNDROME
❏ acute, subacute or chronic
• hematuria with RBC casts, proteinuria (< 50 mg/kg/day, not
nephrotic-range), hypertension,
• renal failure (oliguria)
❏ post-streptococcal glomerulonephritis
• most common in children, especially in 4-8 year olds, M > F
• occurs 1-3 weeks following Group A hemolytic Strep infection
(throat/impetigo)
• diffuse, proliferative glomerulonephritis
• diagnosed by elevated serum antibody titres against Strep antigens
• 95% of children recover completely within 1-2 weeks
• 5-10% have persistent hematuria
Table 28. Major Causes of Acute Glomerulonephritis
➝
C3
Normal C3
Renal
Post-infectious GMN
Membranoproliferative
Type 1 (50-80%)
Type 2 ( > 80%)
IgA Nephropathy
Idiopathic rapidly progressive GMN
Anti GBM disease
Systemic
SLE
SBE
Shunt nephritis
Cryoglobulinemia
Polyarteritis
Wegener's
Goodpasture's
Henoch-Schonlein
NEPHROTIC SYNDROME
❏ severe proteinuria (> 50 mg/kg/day, or > 40 mg/m2/hr)
hypoalbuminemia (< 25 g/L), edema, hyperlipidemia
❏ histopathology
• minimal change disease (76%)
• focal segmental glomerular sclerosis (7%)
• membranous glomerulonephritis (8%)
• membranoproliferative glomerulonephritis (5%)
❏ minimal change disease
• peak occurrence between 2-6 years old
• 90% are steroid-responsive
Pediatrics 72
MCCQE 2000 Review Notes and Lecture Series
GENITOURINARY . . . CONT.
Notes
❏ treatment
•
•
•
•
salt and water restriction
diuretics may be required
prednisone for 8 weeks; if no response, renal biopsy may be required
frequent relapses or steroid resistance may require
immunosuppressant cytotoxic agents
❏ children with nephrotic syndrome are at risk of
• infections (peritonitis, cellulitis)
• hypercoagulability (PE, renal vein thrombosis)
• side effects of drugs (diuretics, steroids,
immunosuppressants)
• hypotension, shock, renal failure
URINARY TRACT OBSTRUCTION
Posterior Urethral Valves
❏ 1/50 000 most common obstructive urethral lesion in male infants
❏ mucosal folds at the distal prostatic urethra
❏ presents with obstructive symptoms, UTI, flank masses, urinary
ascites if renal pelvis ruptures
❏ now detected antenatally: hydronephrosis, pulmonary hypoplasia
❏ diagnosis: U/S, VCUG
❏ treatment: destruction of valves
UPJ Obstruction
❏ most common ureteric abnormality in children
❏ usually in boys, on the left (10-15% bilateral)
❏ etiology: segment of ureter lacking peristaltic activity,
congenital narrowing, muscular bands, external compression
❏ diagnosis: U/S, renal scan +/– furosemide
❏ surgical correction with good prognosis
VESICOURETERAL REFLUX (VR)
❏ urine flows back from the bladder into the ureter, kidney; common
❏ pathophysiology
❏
❏
❏
❏
❏
• most commonly due to short tunnel of ureter in wall of bladder
• 30-50% of those with myelomeningoceles, by association with
neurogenic bladder
• secondary to bladder obstruction
symptoms of
• urinary tract infection, pyelonephritis
• renal failure (FTT, uremia, hypertension) rare
diagnosis with U/S, VCUG; tc-DMSA to assess renal scarring
Staging by VCUG
• I - ureters only fill
• II - ureters and pelvis fill
• III - ureters and pelvis fill, some dilatation
• IV - ureters, pelvis and calices fill, significant dilatation
• V - ureters, pelvis, and calices fill, major dilatation and
tortuosity
complications: pyelonephritis, recurrent UTI, reflux nephropathy,
hypertension, end stage renal disease
management: keep urine sterile to prevent renal damage
• Stage I-III: more than 80% resolve with time
• observe with repeat VCUG, U/S, urine cultures
• monitor renal function
• prophylactic antibiotics (TMP/SMZ, nitrofurantoin)
• Stage IV and greater —> surgical intervention
GENITAL ABNORMALITIES
Hypospadias
❏ 1:500 newborns
❏ urethral meatus opens on the ventral side of the penis,
proximal to the glans
❏ may be associated with chordee (ventral curvature of penile shaft),
undescended testicles, inguinal hernia
❏ if severe, distinguish from ambiguous genitalia, and rule
out other GU abnormalities
❏ do not circumcise; foreskin used for surgical repair
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 73
Notes
GENITOURINARY . . . CONT.
Epispadias
❏ urethral meatus opens on the dorsum of the penis,
at points along the glans and shaft
Phimosis
❏ inability to retract prepuce (persistent > 3 years of age)
❏ may be congenital or a consequence of inflammation
❏ if it is severe, requires circumcision or surgical enlargement of opening
Cryptorchidism
❏ arrested descent of testicles in natural path to scrotum
(prepubic > ext inguinal ring > inguinal canal > abdominal)
❏ common (30%) in premies, 3-4% of full term babies
❏ most descend by 3 months; no spontaneous descent at > 1 year old
❏ sequelae: trauma (inguinal testes), torsion, malignancy (40x risk),
infertility
❏ differential: retractile, ectopic, atrophic testes, intersex state
❏ undescended testes: may palpate in inguinal canal but unable to milk
down into scrotum
❏ retractile testes: parents may have seen them in scrotum, can milk
them down with warm hands/warm room
❏ investigations
• HCG stimulation test to induce descent, serum testosterone,
U/S, CT, surgical exploration, karyotype
❏ treatment
• orchidoplexy by age 2 years, HCG sometimes tried
RESPIROLOGY
UPPER RESPIRATORY TRACT DISEASES
STRIDOR
Common Causes of Stridor
❏ lumen: foreign body, hypertrophic tonsils or adenoids
❏ respiratory wall: croup, epiglottitis, bacterial tracheitis, post-intubation
edema/trauma, tracheomalacia, subglottic stenosis
❏ surrounding structures: retropharyngeal or peritonsillar abscess,
neoplasm, vascular ring
CROUP AND EPIGLOTTITIS (see Colour Atlas J3 and J4)
(see Otolaryngology Notes)
Table 29. Croup vs. Epiglottitis
Croup
Epiglottitis
prevalence
very common
very rare (decreased since use of Hib vaccine)
common agents
Parainfluenza I, II, III
RSV, enterovirus
H.influenza type b
age
3 months-3 years
3-7 years
onset
URI prodrome
rapid onset
physical exam
barking cough, stridor,
non-toxic
quiet stridor, toxic,
respiratory distress,
3D’s: drooling, dysphagia, dysphonia
fever
< 39˚C
> 39˚C
WBC
normal
elevated
x-ray
steeple sign
(tracheal narrowing)
thumbprint sign
(swollen epiglottis)
treatment
humidified air
oxygen if hypoxic
racemic epinephrine
dexamethasone
intubate/ventilate
antibiotics: cefuroxime
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MCCQE 2000 Review Notes and Lecture Series
RESPIROLOGY . . . CONT.
Notes
FOREIGN BODY ASPIRATION
❏ acute: sudden onset of choking, stridor, wheezing, cough, respiratory distress
❏ chronic: persistent, localized atelectasis in lung; recurrent pneumonia
Diagnosis
❏ history: choking spell (recent or remote)
❏ chest x-ray: bilateral decubitus films may show air trapping, foreign
body, or segmental collapse (see Colour Atlas J6)
❏ bronchoscopy: visualize obstruction
Management
❏ complete obstruction: Heimlich maneuver or alternating back blows
and chest thrusts for infants < 1 year old
❏ if unable to expel foreign body: direct laryngoscopy and removal,
intubation or emergency tracheotomy
LOWER RESPIRATORY TRACT DISEASES
WHEEZING
Differential Diagnosis of Wheezing
❏ asthma: recurrent wheezing episodes
❏ pneumonia: fever, cough, malaise
❏ bronchiolitis: first episode of wheezing (see Bronchiolitis Section)
❏ CF: prolonged wheezing unresponsive to therapy
❏ foreign body aspiration: sudden onset wheezing and coughing
❏ gastroesophageal reflux with aspiration: feeding difficulties
❏ congestive heart failure: associated FTT
BRONCHIOLITIS
❏ presents as first episode of wheezing associated with URI and signs of
respiratory distress
❏ common, affects 15% of children in first 2 years of life
❏ peak incidence at 6 months, often in late fall and winter
❏ occurs in children prone to airway reactivity, i.e. increased
incidence of asthma
Etiology
❏ RSV (75%)
❏ Parainfluenza, Influenza, Adenovirus
Clinical Features
❏ prodrome of URI with cough and fever
❏ feeding difficulties, irritability
❏ wheezing, respiratory distress, tachypnea, tachycardia
❏ children with chronic lung disease, severe CHD and
immunodeficiency have a more severe course of the illness
Diagnosis
❏ chest x-ray
• air trapping, peribronchial thickening, atelectasis, increased
linear markings
❏ nasopharyngeal swab
• direct detection of viral antigen (immunofluorescence)
Management
❏ mild distress
• supportive: oral or IV hydration, antipyretics for fever
• humidified oxygen and/or inhaled bronchodilator (Ventolin)
❏ moderate to severe distress
• humidified oxygen
• inhaled bronchodilator (Ventolin) or racemic epinephrine
• continue only if effective
• Atrovent and steroids are not effective
• rarely intubation and ventilation
• consider ribavirin in high risk groups: BPD, CHD, congenital lung
disease, immunodeficient
• case fatality rate < 1%
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 75
Notes
RESPIROLOGY . . . CONT.
❏ indications for hospitalization
• hypoxia: oxygen saturation < 92%
• persistent resting tachypnea > 60/minute and retractions after
several Ventolin masks
• past history of chronic lung disease, hemodynamically
significant cardiac disease, neuromuscular problem,
immunocompromise
• young infants < 3 months old (unless extremely mild)
• significant feeding problems
• social problem, i.e. inadequate care at home
PNEUMONIA
Clinical Features
❏ incidence is greatest in first year of life
❏ fever, cough, crackles
❏ tachypnea, tachycardia, respiratory distress
❏ bacterial cause has more acute onset, but viral cause is more common
❏ abnormal chest x-ray
Etiology
Table 30. Common Causes of Pneumonia at Different Ages
Age
Bacterial
Viral
Others
neonates
Group B streptococcus
E. Coli
CMV
Herpes virus
Mycoplasma
Ureaplasma
1-3 months
S. aureus
H. influenzae
S. pneumoniae
CMV, RSV
Influenza virus
Parainfluenza virus
Chlamydia trachomatis
Ureaplasma
3 months 5 years
S. pneumoniae
S. aureus
H. influenzae
RSV
Adenovirus
Influenza virus
TB
> 5 years
S. pneumoniae
H. influenzae
Influenza virus
Mycoplasma pneumonia (most common)
Chamydia pneumonia
TB
Management
❏ supportive treatment: hydration, antipyretics, humidified oxygen
❏ IV or PO antibiotics
• newborn
• ampicillin and gentamicin +/– erythromycin
• 1-3 months
• ampicillin +/– erythromycin
• 3 months - 5 years
• sick: IV ampicillin
• not sick: PO amoxicillin
• > 5 years
• erythromycin
ASTHMA
❏ characterized by airway hyperreactivity, bronchospasm and
inflammation, reversible small airway obstruction
❏ very common illness which presents most often in early childhood
❏ associated with other atopic diseases such as allergic rhinitis or eczema
Clinical Features
❏ episodic bouts of
• wheezing
• cough: at night, early morning, with activity
• tachypnea
• dyspnea
• tachycardia
Pediatrics 76
MCCQE 2000 Review Notes and Lecture Series
RESPIROLOGY . . . CONT.
Notes
Triggers
❏ URI (viral or Mycoplasma)
❏ weather (cold exposure, humidity changes)
❏ allergens (pets), irritants (smoke), cold dry air
❏ exercise, emotional stress
❏ drugs (aspirin, ß-blockers)
Classification
❏ mild asthma
• occasional attacks of wheezing or coughing (< 2 per week)
• symptoms respond quickly to inhalation therapy
❏ moderate asthma
• more frequent episodes with symptoms persisting and
chronic cough
• decreased exercise tolerance
❏ severe asthma
• daily and nocturnal symptoms
• frequent ER visits and hospitalizations
Management
❏ acute
• oxygen: to keep oxygen saturation > 92%
• fluids: if dehydrated
• ß2-agonists: salbutamol (Ventolin) 0.03cc/kg in 3cc NS q 20
minutes by mask until improvement, then masks q hourly
• ipatropium bromide (Atrovent) if severe: 1 cc added to
Ventolin mask
• steroids: Prednisone 2mg/kg in ER, then 1 mg/kg po od x 4
days
• in severe disease, give steroids immediately
since onset of action is slow (4 hours)
❏ indications for hospitalization
• initial oxygen saturation < 92%
• past history of life-threatening asthma (ICU admission)
• poor response to 5-6 frequent doses of Ventolin
• concern over environmental issues or family’s ability to cope
❏ chronic
• education, emotional support, modification of
environmental allergies or irritants (e.g. cigarette smoke)
• exercise program (e.g. swimming)
• monitoring if appreciation of symptoms is poor (e.g. peak flow meter)
• PFTs > 6 years old
• patients with moderate or severe asthma will need regular
prophylaxis in addition to bronchodilators (e.g. inhaled steroids,
sodium cromoglycate)
CYSTIC FIBROSIS
❏
❏
❏
❏
autosomal recessive
1/3,000 live births, mostly Caucasians
mutation in transmembrane conductance regulator of chloride
CFTR gene found on chromosome 7 (F508 mutation in 70%)
Clinical Features
❏ neonatal
• meconium ileus
• prolonged jaundice
• antenatal bowel perforation
❏ infancy
• pancreatic insufficiency with steatorrhea and FTT
(but voracious appetite)
❏ childhood
• anemia, hypoproteinemia, hyponatremia
• heat prostration
• recurrent chest infections or wheezing (S. aureus,
P. aeruginosa, H. influenzae)
• hemoptysis
• nasal polyps (associated with milder disease)
• distal intestinal obstruction syndrome, rectal prolapse
• clubbing of fingers
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 77
Notes
RESPIROLOGY . . . CONT.
❏ older patients
• COPD
• infertility
Complications
❏ respiratory failure
❏ pneumothorax (poor prognostic sign)
❏ cor pulmonale (late)
❏ pancreatic fibrosis with diabetes mellitus
❏ gallstones
❏ cirrhosis with portal hypertension
❏ infertility
❏ early death (current median survival is 30 years)
Diagnosis
❏ sweat chloride test x 2 (> 60 meq/L)
• false positive tests: malnutrition, Celiac disease, adrenal
insufficiency, anorexia nervosa, hypothyroidism, nephrogenic
diabetes insipidus, nephrotic syndrome
• false negative tests: peripheral edema, cloxacillin, glycogen
storage disease, hypoparathyroidism, atopic dermatitis,
Klinefelter syndrome, hypogammaglobulinemia
❏ pancreatic dysfunction - determined by 3-day fecal fat collection
❏ genetics - useful where sweat chloride test is equivocal
❏ prenatal diagnosis for high risk families
Management
❏ nutritional counselling
• high calorie diet
• pancreatic enzyme replacements
• fat soluble vitamin supplements
❏ management of chest disease
• physiotherapy, postural drainage
• exercise
• bronchodilators
• antibiotics (depends on sputum C&S, e.g. cephalosporin,
cloxacillin, ciprofloxacin, inhaled tobramycin)
• lung transplantation
❏ genetic counselling
ADOLESCENTS
HEALTH ISSUES
❏ growth and development
❏
❏
❏
❏
• physical growth
• sexual maturation and psychosexual issues
• skin problems
nutritional concerns
• poor nutrition
• eating disorders
• obesity
sexuality issues
• teen pregnancy
• sexual abuse
• STDs and HIV (incidence rising in adolescents)
• contraception
• sexual orientation
substance abuse
• tobacco
• alcohol and drugs
depression and mental health disorders
• suicide, homicide and accidents (70% of teen mortality)
• affective, behavior, adjustment, anxiety disorders
• self-esteem issues
• chronic illness (7-10%)
Pediatrics 78
MCCQE 2000 Review Notes and Lecture Series
ADOLESCENTS . . . CONT.
Notes
Clinical Pearl
❏ Injuries are the leading cause of death in adolescents, accounting for 80%
of deaths in 15 to 19 year olds. Risk factors include: alcohol use, failure to
use safety devices, access to firearms and athletic participation
Remember the HEEADSS Interview - assure confidentiality
❏ HOME: where, with whom? relations with family, recent moves,
ever run away?
❏ EDUCATION: attending school? grades, doing OK?, failures,
suspensions, future plans, goals
❏ EATING: habits, anorexia, anemia, obesity
❏ ACTIVITIES: extracurricular, work, sports, music, car, social clubs, gangs,
best friend
❏ DRUGS: types used/tried, alcohol, smoking, with friends or alone?
❏ SEXUALITY: dating, active, preference, types of experiences, safe
sex/contraception, pregnancies, STDs, sexual abuse
❏ SUICIDE: self harm thoughts, prior attempts, depression
NORMAL VARIATION IN PUBERTY
❏ breast asymmetry may occur as one breast may grow faster than the
other; becomes less noticeable as maturation continues
❏ physiologic leukorrhea occurs prior to menarche; scant mucoid, clear to
milky discharge not associated with pruritis or foul odour; occurs
because of stimulation of endometrial glands by estrogen
❏ menses may be irregular in duration of period and/or time between
periods; on average it takes 18 months to go through the first
12 periods; birth control pills should be avoided as treatment
❏ gynecomastia is a common self-limited condition seen in 50-60% of
early male adolescents;1-3 cm round, mobile, sometimes tender, firm
mass underneath areola; if discharge or fixed mass, should be investigated
ACKNOWLEDGEMENTS
Dr. Douglas D. McMillan, Professor, Department of Pediatrics,
Division of Neonatology, University of Calgary
Dr. Maha Hadi, Research Associate, Department of Emergency Pediatrics,
Hospital for Sick Children, Toronto
MCCQE 2000 Review Notes and Lecture Series
Pediatrics 79
Drawing by Roula Drossis

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