PEDIATRICS NOTES

Legal issues: When only one parent consents and the other doesn’t, can still move forward with treatment. Don’t need
parental consent or court order for urgent treatment (e.g., tetanus vaccine after exposure) but do need court order for
non-urgent but lifesaving treatment (chemo)

Physical Exam

HEENT:
● Caput succedaneum: Edema, not blood, that can cross suture lines. It’s soft tissue swelling of the scalp that
involves the presenting delivery portion of the head. Sometimes ecchymotic and can extend across suture
lines. Edema may be pitting, resolves in a few days.
● Subgaleal hemorrhage = subaponeurotic hemorrhage: superficial edema or hematoma that crosses suture
lines, usually located over the crown.
○ Symptoms - head feels squishy, may have tachycardia due to hypovolemia. Basically like a
cephalohematoma that crosses the midline.
○ Can be life-threatening because of hypovolemic shock - some infants require fluid ressuscitation, but
observation alone might be okay
● Cephalohematoma: subperiosteal hemorrhage → hematoma that does not cross suture lines. No
discoloration of the scalp. Usually resolves within a few weeks or months.
● Fontanelles: Anterior remains open until midway through year 2, ossifies during 20’s and finishes by 50 years.
Posterior and lateral fontanelles are gone by 6 montns.

PULMONARY
● RR: Varies by age. Babies: 40-60 breaths/min. Toddlers: 12-14 breaths/min.
● Can stratify the amount of respiratory distress, worse as we move through subcostal → interc1ostal →
supraclavicular → suprasternal.

THORAX
● Thymus is visible on xray until age 3 (sail sign). Baby’s heart should be < 60% diameter of the chest, adults
and kids > 1 year should have < 50% of the chest

ABDOMINAL EXAM
● In neonates, it can be normal to palpate the liver edge 2 cm below the costal margin, a spleen tip, and kidneys
(with deep pressure)
● Umbilical hernias:Usually resolve on their own by one year. Do surgery if age 3-4 years, > 2 cm in diameter,
symptomatic, strangulated, or enlarges after 1-2 years
● Gastroschisis: Bowel protrudes through a defect on the right side of the umbilical cord, not covered by
protective membrane
○ Typically not associated with other congenital abnormalities
○ Treatment: Don’t need a c-section unless other indications are present. Sterile wrapping of the
exposed bowel with sterile sale and plastic wrap to prevent fluid losses. Then decompress bowel with
NG tube, get periperal access, and start abx. Then surgery.
● Omphalocele: Intraabdominal contents protrude through umbilical ring, covered by membrane. Can be
associated wtih other heart and kidney anomalies

HIPS
● Hip dysplasia can cause scoliosis, avascular necrosis, trendelenburg gait, and arthritis
● Clunk on Barlow (adduction and push low) or Ortolani (abduction and push up) → refer to orthopedics
● Leg length discrepancy, asymmetric inguinal folds, inguinal folds that extend past anal aperture, soft click →
suggests hip laxity, usually resolves in two weeks. If still present at 2 weeks, do imaging. ultrasound < 6
months, x-ray > 6 months.

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 ● Treat with the Pavlik hip harness if < 6 months. After that need surgery.

FEET
● Metatarsus adductus: Toes curve inward. Three grades: Grade 1 overcorrects to abduction with active and
passive movement → just give reassurance. Grade 2 corrects to neutral position → give orthosis or corrective
shoes, serial casts if no improvement. Grade 3 does not correct → need serial casts
○ 10% will have hip dysplasia, too
● Club foot: serial casts and stretching at first, and if that doesn’t work, then surgery - preferably between 3 and
6 months, always before 1 year
● Babinski reflex disappears between 1 and 2 years.

SKIN
● Strawberry hemangiomas are benign vascular tumors of childhood. Appear in first weeks of life, grow rapidly,
and typically regress by 5-7 years. Composed of capillaries separated by CT.
○ Cherry hemangiomas are the most common benign vascular tumors in adults - small bright red
cutaneous papules, won’t regress
● Cavernous hemangiomas: Can be present at birth or appear later in life. Compressible masses up to a few
cm in size. Caused by dilated vascular spaces
● Cystic hygromas (lymphangiomas) benign tumors of dilated lymphatic spaces, often occur in the neck.
Lobulated, compressible, will transilluminate

DEVELOPMENT:
● Fine Motor: 3 years copies a cross and a circle, 4 years copies a square and a rectangle, 5 years copies a
triangle, 6 years copies a diamond

DRUG EXPOSURES IN UTERO

● Heroin/methadone: does not cause dysmorphic features or congenital anomalies, but do have increased risk
of IUGR, , macrocephaly, SIDS, and neonatal abstinence syndrome. NAS presents in 48 hours for heroin, 48-
72 hours or up to 4 weeks later for methadone. Treat with morphine and wean to control withdrawal.
● Valproic acid: neural tube defects, cardiac anomalies, dysmorphic face
● Phenytoin → fetal hydantoin syndrome: nail and digit hypoplasia (phunny phingers), dysmorphic face, MR
● Cocaine: jittery, excessive sucking, hyperactive moro, long term effects on behavior, attention, intelligence.
Increased risk of vascular accidents (e.g., jejunal and ileal atresia). Withdrawal not as severe as with opiates.

Newborn Screening

1. Metabolic screenings:
a. Most common = hypothyroid, PKU, galactosemia, Hb type, adrenal hyperplasia.
■ Congenital hypothyroid: Most often caused by thyroid disgenesis. Baby has a large tongue,
jaundice, hoarse cry and decreased activity
b. Sometimes = maple syrup urine disease, homocysteinuria, biotinase deficiency, cystic fibrosis,
tyrosinemia, and toxoplasmosis.
■ Maple syrup urine disease: Can’t process isoleucine, leucine, and valine (I Love Vt maple
syrup!). Presents around a week after birth → convulsions and death by 2-4 weeks. Treat with
diet free from branched chain AAs. Poor feeding, vomiting, lethargy, developmental delay,
seizures, coma, and death
■ Biotinase deficiency: can’t make free biotin for use with mitochondrial enzymes. Symptoms
show up several months or years later → skin issues (dermatitis, alopecia), neuro issues
(ataxia, hypotonia, seizures, developmental delay, deafness), immune deficiency, and
metabolic acidosis. Treat with lifelong administration of biotin.
■ Galactosemia: Absence of galactose-1-phosphage uridyl transferase → get stuck with
galactose 1P and can’t convert to glucose 1P. Jaundice, emesis, listlessness. Increased risk

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 of e coli sepsis. Treat with avoiding lactose (no cow’s milk or breast milk) → cataracts will
regress!
● Galactokinase deficiency: Mild galactosemia,can’t phosphorylate galactose to form
galactose 1P. Just get cataracts, no other symptoms.
■ Ornithine transcabamylase deficiency: Protein restriction and avoid citrulline
■ Homocysteinuria:
● AR disorder caused by cystathione synthase deficiency - dereased production of
cystathione from homocysteine. End up with elevated homocysteine levels, which
predisposes to clotting, strokes, etc.
● Have marfanoid body (tall, especially long arms, joint laxity, chest deformities),
intellectual disability, downward lens dislocation, fair hair and eyes, and
hypercoagulability.
● Diet high in B6, folate, and methionine - encourages homocysteine to form
cystathione and cysteine rather than methoionine. Also antiplatelets or anticoagulation
to prevent stroke, coronary artery disease, and venous thrombosis.
■ PKU: autosomal recessive. Can’t metabolize phenylalanine to tyrosine. Born normal, then
symptoms around several months of age. Musty smell, fair complexion, eczema. Untreated →
MR and seizures
● Treat by avoiding phenylalanine in food, avoid high protein foods. Can have normal
development and lifespan if stick to the diet.
● Babies born to moms with PKU end up with fetal alcohol like syndrome
■ Methioninemia: elevated methionine and homocystine levels associated with no symptoms or
cabbage smell, delays in walking, mental retardation, and muscle weakness
2. Hg or Hct: recommended for high risk infants (preemies, low birth weight), at 9-12 months of age, and yearly
on menstruating adolescents
3. Urinalyses: recommended 9-12 months of age and at 5 years. If sexually active, annual dipstick for WBCs
4. Lead: 9-12 months, esp. in high risk areas. Again at 2 years.
5. Cholesterol: positive family history → screen older than 2 years
6. STDs: annually on sexually active patients

Case 1: Failure to Thrive

Normal for newborns to lose up to 7% of birthweight in the first 5 days. Get concerned if > 10%. Should regain
birthweight by 10-14 days. May have brick red uric acid crystals in the diaper during this time from dehydration - it’s
okay. Can also happen when first sleep through the night. But uric acid crystals could also signal Lesch-Nyhan rarely.

Term babies need 100-120 kcal/kg/day. Average daily weight gain is 20-30 grams. Preterm babies need 115 to 130
kcal/kg/day. Very low birthweight babies need up to 150 kcal/kg/day.

Poor caloric intake affects growth in the following order: weight → length → head circumference
In general, weight should triple by 1 year and length should increase by 50%.

Failure to Thrive (FTT): Suspect if growth is < 3-5th percentile, child is < 6 months and has not gained weight in 2-3
months; growth crosses two major percentile markers in a short period of time.
● Must modify growth curves for preemies, Down Syndrome, and Turner syndrome. For preemies, weight gain
should follow or exceed term infants.
● Nonorganic FTT = psychosocial etiology. Present in 33-50% of FTT cases in tertiary care settings, nearly all
cases in primary care settings. Most kids catch up with appropriate treatment.
● Organic FTT: Poor growth caused by an underlying medical condition. Sometimes kids can catch up with
appropriate treatment.
● Alternative Dx: Check if family members are genetically small or have a slow growth history (constitutional
delay) → if so, don’t necessarily need to do an exhaustive workup

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Major causes of poor weight gain
1. Inadequate calorie intake
a. Lack of appetite - depression, chronic disease.
i. Also kids between 18 and 30 months can become picky eaters → growth curve plateaus.
Treatment: provide nutrition, avoid force feeding, provide snacks, close follow up.
b. Ingestion challenges - feeding disorders, neuro disorders (cerebral palsy), craniofacial anomalies,
genetic syndromes, TEF
i. Most common kind of TEF is complete upper esophageal atresia, then distal esophagus
comes off the trachea → air in the bowel and respiratory difficulty after feeding
c. Unavailability of food - neglect, inappropriate food for age, insufficient volume of food\
2. Altered growth potential
a. Prenatal insult, chromosomal anomalies, endocrine disorders
3. Caloric wasting
a. Emesis - intestinal tract disorders, drugs, toxins, CNS pathology
b. Malabsorption - GI disease (biliary atresia, celiac disease), inflammatory bowel disease, infections,
toxins
c. Renal losses - diabetes, renal tubular acidosis
4. Increased caloric requirements
a. Increased metabolism - congenital heart disease, chronic respiratory disease, cancer, chronic
infection, hyperthyroidism
b. Defective use of calories - metabolic disorders, renal tubular acidosis

Treatment and follow up

Healthy babies < 1yr: require 120 kcal/kg/day, then 100 kcal/kg/day.
FTT children need an extra 50-100% more to catch up on growth.
For babies, might need formulas with more than the standard 20kcal/oz. Older kids might need pediasure or ensure.

Notes on specific diagnoses:

● Intrauterine CMV: Developmental delay, IUG retardation (including microcephaly), prolonged neonatal
jaundice, purpura at birth. Calcified brain deposits in a periventricular pattern.
● Intrauterine toxoplasmosis: Same symptoms as CMV - Developmental delay, IUG retardation (including
microcephaly), prolonged neonatal jaundice, purpura at birth. Calcified brain densities are scattered
throughout the cortex
● Renal tubular acidosis: Provide oral bicarb
○ Type 1 = distal tube defect caused by impaired H+ secretion,
○ Type 2 = proximal tubule defect caused by impaired HCO3- reabsorption,
○ Type 4 = distal tubule defect caused by impaired ammoniagenesis.
● Cerebral palsy: A group of clinical syndromes characterized by nonprogressive motor dysfunction. Biggest
risk factor is prematurity. 50% have intellectual disability.
○ Most common type is spastic diplegia- hypertonia and hyperreflexia that mostly involves the legs. Will
have feet pointing down and inward (equinovarus deformity)
○ Acute intrapartum hypoxia and low APGAR scores are poor predictors of CP! Most with low APGARS
will not have CP.

Neuro diseases
● Werdnig-Hoffman = SMA type 1: defect in survivor motor neuron gene that stops apoptosis of motor
neuroblasts. Usually die by age 2 or 3. Causes a “floppy baby” syndrome.
○ SMA II can survive into school age. SMA III have normal intelligence and no heart affects
● PHACES syndrome: Posterior fossa malformation, Hemangioma, Arterial abnormalities, Coartaction of the
aorta or other cardiac defects, Eye abnormalities, Sternal defects

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 ● McCune Albright syndrome = large, irregular, usually unilateral cafe au lait spots and fibrous dysplasia of the
bones in association with precocious puberty in girls. Remember 3 P’s: Precocious puberty, pigmentation,
polyostic fibrous dysplasia (prone to broken bones)

MMR and hep A not given until 1 year.

Case 2: Substance Abuse and Dependence

Substance abuse = use leading to impairment or distress; causing harm like failure to meet obligations, physical harm,
etc.; or use despite social or interpersonal consequences resulting from the drug’s effect

Substance dependence: Loss of control with continued use = tolerance requiring higher doses or withdrawal when
terminated, compulsion to use the drug, and continued use despite negative consequences.

Drug screening: Attempt to get the adolescent’s permission and maintain confidentiality!
1. Alcohol - 7-10 hours in blood, 10-13 in urine
2. Marijuana - 3-10 days in urine for occasional use, up to 2 months for chronic use
3. Cocaine - 2-4 days in urine
4. Meth, ecstasy, opiates - 2 days in urine
5. PCP - 8 days in urine
6. Barbituates - 1 day for short acting, 2-3 weeks for longer acting

Case 3: Trisomies

Brachydactyly: Shortening of hand and foot tubular bones

Clinodactyly: Incurving of one of the digits (in DS, 5th digit curves towards the 4th)
Dysmorphic child: problems of generalized growth or body structure
● Syndrome = constellation of features from a common cause, e.g. Down syndrome physical features
● Association = two or more features of unknown cause occurring together more often than would be expected
(VATER = vertebral problems, anal anomalies, trachea problems, esophageal abnormalities, radius or renal
abnormalities)
● Sequence = single defect that leads to subsequent abnormalities (Potter’s sequence)

Serum trisomy screening: Measure AFP, HCG, inhibin A, and estriol levels - usually done at 15-20 weeks. Identifies
75% of DS and 80-90% of neural tube defects

Down syndrome
● Incidence: At 35 years, 1 in 378 → at 40 years, 1 in 106 → at 49 years, 1 in 11.
● 95% are caused by nondisjunction, 2% caused by translocation, and 3% are mosaic. If translocation, evaluate
the parents for chromosomal abnormalities - recurrence risk can approach 100%
● Nonobvious symptoms:
○ Brushfield spots = white or grey spots on the periphery of the iris
○ Small and rounded ears
○ Single palmar/simian crease, 5th finger clinodactyly, wide spacing between 1st and 2nd toes
○ Excess nuchal skin
○ Brachycephaly (disproportionate shortness of head), brachydactyly, short stature
○ Widespread nipples
○ Pelvic dysplasia
○ Joint hyperflexibility
○ Hypotonia
○ Poor Moro reflex
● Associated problems

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 ○ 50% have cardiac defects: most often endocardial cushion defects (60%) = atrioventricular canal
defect, VSD (32%), tetralogy of Fallot (6%)
○ 12% have intestinal atresia: most often duodenal atresia (double bubble sign). Sometimes presents
with polyhydramnios. All DS infants will have hypotonia and sometimes slower feeding.
○ Other risks in newborns: hearing loss (evaluate by 3 months); strabismus, cataracts, and nystagmus
(evaluate eyes by 6 months); congenital hypothyroid
○ Long term risks: obesity, higher leukemia risk, acquired hypothyroid, atlantoaxial (cervical) spine
instability, premature aging with increased risk of Alzheimer’s (75% over 65, 25% show signs by 35
yrs)
■ Atlanto-axial instability in 10-15% - excess laxity in posterior transverse ligament. Symptoms
present over several weeks from compression of the spinal cord

Trisomy 18 = Edwards Syndrome: Low set and malformed ears, microcephaly, micrognathia, rocker bottom feet,
inguinal hernia, cleft lip and palate, clenched hands with overlapping digits, 50% have congenital heart disease - most
often VSD

Trisomy 13 = Patau Syndrome

● Small for gestational age
● Microcephaly, sloping forehead, cutis aplasia of the scalp
● Polydactyly, flexed and overlapping fingers
● Microopthalmia
● Omphalocele
● Holoprosencephaly (failure of growth of the forebrain)
● Cleft lip or palate
● Cardiac defects (VSD, ASD, PDA, dextrocardia)
● Coloboma

Case 4: Immunodeficiency

If FTT or atypical or difficult to eradicate infections → suspect immune suppression.

Primary immunodeficiency: inheritable disorder of weakened immunity and recurring, serious infection early in life
Secondary immunodeficiency: caused by primary conditions like cancer, malnutrition, hepatic disease, and HIV
infection

HIV
● Infected mom has 25% chance of transmitting to the baby if antiretrovirals (zidovudine) are not taken during
pregnancy. Zidovudine should be started during the 2nd trimester and continued through 6 weeks → reduces
risk of transmission to 10%.
○ Test babies born to HIV+ moms at birth and at intervals through 6 months of age.
○ If baby is HIV+, begin bactrim at 6 weeks for PCP prophylaxis. Follow CD4 and HIV RNA levels.
○ 75% of infected babies will follow a typical adult course with worsening symptoms over > several
years. 25% will progress quickly during the first several months of life.
● Testing:
○ HIV DNA PCR: used in babies < 18 months because antibody test can have false positives due to
maternal antibodies. Sensitivity and specificity > 95%. To rule out HIV, do 2 tests after 1 month of age.
■ Follow with HIV RNA activity, CD4 cell count, and clinical findings to determine disease
status.HIV RNA levels > 100,000 copies/mL = advanced progression, early death.
○ HIV antibody ELISA test: Screening test that looks for IgG, which is detectable 2 weeks to 6 months
after exposure. Sensitivity and specificity > 99%. False negatives can occur after immunization or with
hepatic disease, autoimmune disease, or AIDS

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 ○ Western Blot: Directly visualizes antibodies to HIV proteins. Can be used to confirm the ELISA
results, but the test can be inconclusive and require repeat testing
● Treatment
○ Classes of drugs
■ Nucleoside reverse transcriptase inhibitors: Didanosine, stavudine, zidovudine. Choose two.
■ Nonnucleoside reverse transcriptase inhibitors: efavirenz, nevirapine
■ Protease inhibitors: indinavir, nelfinavir. Choose one.
○ Give two nucleoside reverse transcriptase inhibitors + one protease inhibitor
○ Side effects of all classes = headache, emesis, abdominal pain, diarrhea, osteopenia, drug rash,
anemia, neutropenia, elevated transaminases, hyperglycemia, hyperlipidemia
● Immunizations:
○ Keep them current and administer on the peds schedule, except for live vaccines (MMR, varicella) in
symptomatic HIV+ kids with CD4 < 200 (=15%)

Diabetes
Hyperglycemia → neutrophil dysfunction and circulatory insufficiency → insufficient neutrophil chemotaxis during
infection

T Cell Deficiency
DiGeorge Syndrome (22q11 microdeletion)
● Failure of the 3rd and 4th brachial arches to form → decreased T cell production and recurring infection
● Atypical face - wide set eyes, prominent nose, small mandible, cleft palate
● Cardiac defects like VSD and tetralogy of Fallot (boot shaped heart)
● CATCH-22: conotrunal cardiac defects, abnormal face, thymic aplasia or hypoplasia, cleft palate,
hypocalcemia

B Cell Disorders

Wiskott-Aldrich Syndrome: rare x-linked disorder with recurrent bacterial infections, bleeding caused by by
thrombocytopenia and platelet dysfunction, and chronic eczema.
● WATER = Wiskott Aldrich, Thrombocytopenia, Eczema, and Recurrent infections, with high IgA and IgE.
Recurrent infections are caused by impaired humoral immunity (decreased to normal IgM and IgG) and T cell
mutation - they can’t reorganize actin cytoskeleton
● Prolonged bleeding from circumcision might be the first clue, also bloody diarrhea and easy bruising
● Few live past teens, often die from EBV malignancy

IgA deficiency: Recurrent sinopulmonary infections and diarrhea. Possible anaphylactic reaction to blood transfusion
due to production of antibodies to IgA.

Hyper IgM syndrome: X-linked genetic defect in the CD40 Ligand on T cells that binds to CD40 on B cells and
induces a class switch from IgM to other types. End up with elevated IgM with depressed IgG and IgA. Susceptible to
sinopulmonary infections and diarrhea, but no anaphylaxis to blood transfusions

Hyper IgE = Job’s syndrome: High IgE, eosinophilia, coarse facial features, chronic itchy dermatitis, recurrent staph
infections in skin and lungs

Bruton’s tyrosine kinase mutation = x-linked agammaglobulinemia: Only boys. Manifests around 6 months when
maternal antibodies are gone. Lots of infections with encapsulated bacteria because they require antibody binding for
effective opsonization. Have sinusitis, bronchitis, pneumonia, and otitis media.

Common variable immunodeficiency: Presents like Bruton’s but have less severe symptoms at a later age (15-35
yrs). Might have decreased antibody levels but no decrease in B cells

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 Combined B and T Cell Disorders

Adenosine deaminase deficiency: a type of SCID - B and T cell deficiency from birth. Have no lymphoid tissue - no
tonsils, lymph nodes, thymus, etc. Treat with bone marrow transplant, no worry of rejection

Phagocyte Disorders

Leukocyte Adhesion Deficiency: Inheritable disorder of leukocyte chemotaxis and adherence → recurring
sinopulmonary, oropharyngeal, and cutaneous infections with delayed wound healing. Neutrophil counts often >
50,000 cells/mm3. Can have life threatening infections with staph, enterobacteriaceae, and candida. Big red flag is if
the umbilical cord fails to detach.

Cyclic neutropenia: AD inherited condition where neutropenia happens every three weeks, causing oral ulcers,
pharyngitis, and lymphadenopathy. Treat with granulocyte colony stimulating factor

Chronic granulomatous disease: Deficiency of NADPH oxidase → no respiratory burst. Can’t make H2O2. Get
infections with catalase positive bugs (staph, serratia, klebsiella, aspergillus). Neutrophils full of bacteria is a classic
finding - can phagocytose, but can’t kill the bugs.

Chediak Higashi: Decreased granulation, chemotaxis, and granulopoeisis. Mild coagulopathy, hepatosplenomegaly,
partial oculocutaneous albinism, frequent staph aureus infections, neutropenia. Treat with bactrim and daily vitamin C.

Complement Disorders

Complement overconsumption can happen when large quantities of antibody-antigen complexes are present, like in
vasculitis, glomerulonephritis, and certain CT diseases. Lupus is a classic example.

C3 deficiency: infections with encapsulated bacteria (not staph aureus) shortly after birth

Case 5: Klinefelter Syndrome

Causes of mental retardation

● Preconceptual and early embryonic disruptions - teratogens, chromosomal abnormalities, placental
dysfunction, congenital CNS malformations
● Fetal brain insults - infections, toxins, placental problems
● Perinatal difficulties - prematurity, metabolic disorders, infections
● Postnatal brain injuries - infections, trauma, metabolic disorders, toxins, poor nutrition
● Miscellaneous postnatal family difficulties - poverty, poor caregiver-child interaction, parental mental illness

Klinefelter Syndrome (XXY)

● XXY - caused by nondisjunction. Affects 1 in 600 to 1 in 800 males. Often goes unnoticed until puberty.
Consider for all boys (regardless of age) who have mental retardation or psychosocial, school, or adjustment
problems.
● Mild mental delay, eunuchoid (gynecomastia), long arms and legs, hypogonadism
● Same incidence of breast cancer as women.

XYY Males
● Explosive tempers, start to be aggressive or defiant by 5 or 6.
● Long and asymmetrical ears, long face and fingers, tend to be tall.

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Turner Syndrome (XO)
● Primary amenorrhea, decreased hearing, horseshoe kidney, congenital heart disease (coarctation of the aorta,
bicuspid aortic valve), hypertension, hypothyroid, normal intelligence, increased risk of osteoporosis from
decreased estrogen (streak ovaries)
● Very short, low posterior hairline, prominent and low set ears, excessive nuchal skin, widely spaced nipples
and broad chest, increased carrying angle of the arms (cubitus valgus), edema of the hands and feet as a
baby, short metacarpal and metatarsal

Fragile X: low to normal IQ with learning disabilities, language disability, short attention span, autism, large head,
prominent jaw, large low set ears, large testicles. Caused by increased CGG repeats in the FMR1 gene.

Case 6: Megaloblastic Anemia & Case 7: Rickets

Goat’s milk diet

● Goat’s milk is low in vitamin D, iron, folate, and B12. Must supplement with iron, folate, and B12.
● Also risk of Brucellosis if the milk is unpasteurized

Breast milk
● Complete nutrition except for maybe Vitamin D and flouride. Iron is low but highly bioavailable - don’t need to
supplement until 4-6 months of age unless baby is preterm - then at higher risk of iron deficiency anemia
● Main protein source is whey, which is more easily digested than casein and helps to improve gastric emptying
● Immune benefits from IgA and macrophages (fight E Coli)
● Risks: HIV/virus transmission, low vitamin K levels → hemorrhage (prevent by giving Vitamin A at birth), can
exacerbate jaundice by increasing unconjugated bilirubin
○ Contraindications: Active untreated TB infection (can BF 2 weeks after starting treatment), HIV
infection, active substance abuse, galactosemia. Moms with Hep B and C should breastfeed unless
nipples are cracked and bleeding
● Vegan moms should supplement with B12 - prevents methylmalonic acidemia = FTT, seizure,
encephalopathy, stroke, other neuro symptoms

Vegan toddlers - give B12 and trace minerals because vegan diet can have a rapid transit time that can deplete trace
minerals

Risk for ADEK deficiency in conditions associated with malabsorption of fat-soluble vitamins:
● Cystic fibrosis
● Celiac disease
● Steatorrhea
● Biliary atresia: affects 1 in 16k births. Bile ducts become blocked and fibrotic → reduced flow of bile to bowel.
The Kasai procedure is an operation where a bowel loop forms a duct → bile drains from the liver
● Liver failure: Causes poor bile salt secretion. Kids with liver failure and ascites get loop diuretics → can cause
calcium wasting in urine. Give high doses of vitamin D and calcium supplements.

Rickets - from deficiencies of Vitamin D, calcium, or phosphate. Usually have normal serum calcium, but low
serum phosphate and low calcium in urine. Always have increased alkaline phosphatase!
● Vitamin D rickets causes smooth bowing of the legs, knock knees or bow legs.
● Calcium rickets → myopathy, rachitic rosary, pectus deformities, tetany, tooth enamel defects. Costochondral
joint enlargement is ALWAYS pathologic and should prompt assessment for rickets

Causes of calcium deficiency with secondary hyper PTH

● Lack of Vitamin D - diet, decreased sun exposure
● Malabsorption of Vit D - celiac, CF, liver disease

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 ● Anticonvulsant drugs (phenobarbital, phenytoin) - reduced 25-OH-D3 levels, maybe because of increased
P450 activity. Give D2 and adequate calcium
● Renal osteodystrophy - hypophosphaturia → elevated phosphate levels → increased PTH (increased bone
turnover) and decreased 1-hydroxylation of 25-OH-D3 → decreased calcium absorption
● Vitamin D dependent calcium deficiency type 1: autosomal recessive, have reduced activity of 25-
hydroxylase. Responds to massive doses of D2 or low dose 1,25-OH-D3.

Causes of phosphate deficiency without secondary hyperPTH

● Familial Primary Hypophosphatemia = Vitamin D Resistant Rickets = most common cause of non-
nutritional rickets. X-linked dominant. Can’t hold onto phosphate!
○ Hypodense calcification of bones, fractures, smooth lower extremity bowing knock knees or bow legs,
short stature.
○ Kidneys have defective phosphate reabsorption and defective hydroxilation of vitamin D → low
activated vitamin D, low-normal serum Ca, moderately low serum PO4, and high alkaline
phosphatase with normal PTH levels
○ Hyperphosphaturia without other evidence of hyperPTH.
● Fanconi syndrome - can’t reabsorb serum phosphorus → increased alk phosphatase. Have normal calcium
levels. Caused by autosomal recessive cystinosis and tyrosinosis, x-linked recessive lowe syndrome
● Renal tubular acidosis type 2: Waste bicarb at the proximal tubule, also lose phosphate, calcium, potassium,
and phosphate. Calcium bicarbonate can leech from bones as an attempt to buffer retained H+.
● Oncogenic hypophosphatemia: tumor secretion of phosphate regulating gene product (PEX) → waste
phosphate in urine and decrease hydroxylation of 25-OH-D3. Can be in the small bones of hands and feet,
abdominal sheath, nasal antrum, and pharynx. Resolves after tumor removal.
● Phosphate deficiency or malabsorption: Parental hyperalimentation or low intake

End organ resistance to 1,25-OH-D3

● Vitamin D-dependent Type II. Autosomal recessive. Have high levels of 1,25-OH-D3

Hypoparathyroidism: kid with numbness and tingling of the hands, develops t/c seizures. Low calcium, high PO4.

Psuedohypoparathyroidism = Albright hereditary osteodystrophy: High PTH levels, but body doesn’t respond - so
they have all the findings of low PTH = low Ca, high PTH.
● Short, delayed bone age, increased bone density, short fingers (esp 4th and 5th), cutaneous and subq
calcifications and calcifications of the basal ganglia. Also obese, round face, short neck, mental retardation
● Give PTH → no increase in PO4 in the urine

Don’t confuse with Rickets: Schmid Metaphyseal Dysplasia.

● Autosomal dominant. Presents with short stature, leg bowing, waddling gait, irregular long bone mineralization.
But normal levels of serum calcium, phosphorus, and alkaline phosphatase, along with normal urine AA levels

High calcitonin is usually asymptomatic (e.g., medullary cancer of the thyroid) - will have normal calcium and
phosphate levels

Vitamin Use Deficiency Excess

Vitamin A Antioxidant, part of retinal
pigments, necessary for
differentiation of epithelial
cells into specialized tissues,
prevents squamous
metaplasia.
Night blindness, xerophthalmia
(don’t make tears), keratomalacia,
conjunctivitis, abnormal tooth
enamel development, impaired
resistance to infection, poor
growth
Increased ICP (retin A,
accutane), anorexia, alopecia,
carotenemia, hyperostosis (pain
and swelling of long bones), poor
growth, hepatomegaly (Ito cells)

10
 Used to treat Measles and
AML, type 3
Vitamin B1 In TPP, a cofactor for
(thiamine) dehydrogenase reactions in
TCA cycle, HMP shunt,
branched chain ketoacid
dehydrogenase
Vitamin B2 Part of FAD and FMN,
(riboflavin) cofactor for redox reactions
(like succinate
dehydrogenase in TCC)
Vitamin B3 Part of NAD, NADP. Made
(niacin) from tryptophan.
Vitamin B5 Part of CoA, a cofactor for
(pantothenic acyl transfers, and fatty acid
acid) transfers
Vitamin B6 Converted to pyridoxal
(pyridoxine) phosphate, a cofactor used in
transamination (ALT, AST),
decarboxylation, glycogen
phosphorylase. Used in
making heme, cystathione,
niacin, histamine,
neurotransmitters
Vitamin B7 Cofactor for carboxylation
(biotin) enzymes
Vitamin B9 Converted to THF, a
(folic acid) coenzyme for methylation
rxns. Important for making
nitrogenous bases for DNA
and RNA
Dry Beri Beri = neuritis, muscle ?
wasting
Wet Beri Beri = high output
cardiac failure from dilated
cardiomyopathy, heart failure
Wernicke Korsakoff in adults
Cheilosis, ocular problems ?
(keratitis, conjunctivitis), corneal
vascularization, seborrheic
dermatitis, poor growth,
photophobia, normocytic
normochromic anemia
Pellagra = dermatitis, dementia, Facial flushing (prostaglandins),
diarrhea pruritis, hyperglycemia and
hyperuricemia
Dermatitis, enteritis/abdominal ?
pain, alopecia, adrenal
insufficiency → depression,
hypotension. Muscle weakness.
Irritability, convulsions, Sensory neuropathy
sideroblastic anemia due to
impaired hemoglobin synthesis
and iron excess
In older patients (e.g., iisoniazid),
periopheral neuropathy
Can be caused by antibiotics or ?
eating too many raw egg whites
(avidin binds biotin)
Dermatitis, alopecia, enteritis,
anorexia, muscle pain. Relatively
rare.
Can have biotinase deficiency →
can’t make free biotin. Get skin
problems, neuro problems,
immune deficiency, and metabolic
acidosis.
Macrocytic, megaloblastic anemia, Extremely high levels → stomach
hypersegmented PMNs, glossitis. problems, seizure, sleep
disturbance, skin reactions
Labs: increased homocysteine,
normal methylmalonic acid. Most
common vitamin deficiency!Seen
in pregnancy, alcoholism,
phenytoin, sulfonamides,
methotrexate.
11
Vitamin B12 Cofactor for homocysteine
(cobalamin) methyltransferase and
methylmalonyl CoA mutase
Macrocytic, megaloblastic anemia, ?
hypersegmented PMNs,
paresthesias, degeneration of
dorsal columns, lateral
corticospinal tracts, spinocerebellar
tracts b/c of abnormal myelin.
methylmalonic acidemia.

Have increased homocysteine

AND increased methylmalonic acid

Vitamin C Antioxidant, facilitates iron
(ascorbic absorption (reduces to Fe+2),
acid) needed for hydroxylation of
proline and lysine in collagen
production, needed to convert
dopamine to NE
Ancillary treatment for
methemeoglobinemia!
Scurvy - swollen gums, brusing, Predisposition to kidney stones
hemarthrosis, anemia, poor wound
healing, perifollicular and
subperiosteal hemorrhages,
corkscrew hair.
Weak immune response

Calcium Needed for mineralization of Calcium rickets → angular bowing

bone and tooth enamel. of the legs, myopathy, rachitic
rosary, pectus deformities, tetany,
tooth enamel defects

Vitamin D D2 = ergocalciferol is from
plants
D3 = cholecalciferon is in milk
and formed in skin via
cholesterol → 7-deOH-
cholesterol → D3. Last step
requires sunlight!
Rickets (elevated serum alkaline
phosphatase levels come first),
osteomalacia, infantile tetany
(hypocalcemia?)
Risk in conditions that impair
absorption of fat soluble vitamins
(liver failure, biliary atresia, CF).
Hypercalcemia, azotemia, poor
growth, nausea and vomiting
(calcium?), calcinosis of many
tissues.
Excess is seen in sarcoidosis
(increased activation of vitamin D
by epitheliod macrophages)

25-OH D3 = storage form, Risk in renal failure (kidneys have

hydroxylated in the liver.
Defective production in
autosomal recessive Vitamin
D-dependent calcium
deficiency, type 1.
1-alpha-hydroxylase), and Familial
Primary Hypophasphatemia (x
linked dominant) - defect in
reabsorbing phosphate and 1-
hydroxylation of 25-OH-D3.

1-25-OH-D3 = calcitriol = Dx by measuring serum 25-OH-

active form, converted in
kidney proximal tubules by 1-
alpha-hydroxylase. Defective
in familial primary
hypophosphatemia.
D3, calcium, phosphorus, and
alkaline phosphatase levels. Xrays
show poor bone mineralization

Increases intestinal
absorption of calcium and
phosphate, increases bone
mineralization

Iron Necessary for heme Iron deficiency anemia (microcytic,

production hypochromic, RDW > 20% as
opposed to 12-14% with
thalassemias)

12

Vitamin E Protects RBCs and
membranes from free radicals
(E for Erythrocytes)
Vitamin K Cofactor for gamma
carboxylation of glutamic acid
residues on proteins required
for blood clotting (factors 2, 7,
9, 10, and proteins C, and S).
Made by intestinal bacteria.
Warfarin is a vitamin K
antagonist
Risk if the infant didn’t get
supplementation while
breastfeeding. Milk is also low in
iron.
Hemolytic anemia in preemies ?
Degeneration of dorsal colums and
spinocerebellar tracts - can look
like B12 deficiency but no
megaloblastic anemia,
hypersegmented neutrophils, or
increased methylmalonic acid
levels
Hemorrhage with increased PT Water soluble forms can cause
and PTT but normal bleeding time. hyperbilirubinemia
Babies have to get a vitamin K
shot at birth. They have sterile
intestines and can’t make vitamin
K. It’s not in breast milk, either!
Can also have deficiency after
prolonged use of broad spectrum
antibiotics.
13
 Case 8: Diabetic Ketoacidosis

Usually due to increased insulin requirements from increased stress (e.g., infection). Excess fat breakdown and
increased ketogenesis from increased free fatty acids, which are then converted to ketone bodies (beta hydroxy
butyrate > acetoacetate). Must evaluate for infection!
● Note that any infection can cause hyperglycemia - DKA is different because it comes with ketoacidosis.

Symptoms = kussmaul breathing (rapid, deep, assoc’ed with acidosis), nausea and vomiting, abdominal pain,
psychosis/delirium, dehydration → elevated BUN and creatinine, hypotension, hypothermia. Have fruity breath odor for
exhaled ketones.
● Can get cerebral edema - treat in the usual way.

Labs: hyperglycemia (400-800), increased H+, decreased HCO3 (anion gap acidosis), increased blood ketones,
leukocytosis, hyperkalemia with depleted intracellular K+ due to transcellular shift from decreased insulin

Treatment for DKA: aggressive volume repletion, give insulin, glucose (when levels are down to 250-300), potassium.
Low plasma pH and elevated ketones will correct in 8-10 hours. Serum bicarb can be low for 24 hours. Avoid giving
bicarb except in extreme scenarios - can cause hypokalemia, shift the oxygen dissociation curve to the left and
worsen oxygen delivery, overcorrect acidosis, worsen cerebral acidosis

Diabetes in general
● Somogyi phenomenon: nocturnal hypoglycemic episodes manifested as night terros, headaches, early
morning sweating. Then a few hours later, counter regulatory hormones → hyperglycemia, ketonuria, and
glucosuria.
● “Honeymoon phase”: Up to 75% of newly diagnosed diabetics have progressive decrease in the daily insulin
requirement in the months after diagnosis, some even need no insulin. But then a few months later, insulin
requirement returns.

Case 9: Sickle Cell Disease

Diagnosed as part of newborn screening. Symptoms appear around 4-6 months as fetal Hgb is replaced with sickle
Hgb

1. Prophylaxis and treatment

a. Start penicillin by 2 months, folate by 6 months
b. Get baseline and periodic CBC and reticulocyte measurement screenings beginning around 2 months.
c. Special vaccinations at 2 years: meningococcal and 23 valent polysaccharide pneumococcal vaccine.
i. Kids receive the conjugate pneumococcal vaccine as a routine matter at 2,4, and 6 months of
age.
d. Hydroxyurea can increase the production of fetal hemoglobin
2. Risks:
a. Sepsis: give antibiotics if the kid has a fever! Admit to the hospital. Strep pneumo is the most likely
cause of bacteremia even if vaccinated. Prophylax with penicillin until 5 y/o
b. Pain crises: can treat with morphine, hydromorphone. May need to admit.
i. Prevent with hydroxyurea - risk of myelosuppression but less risky than regular blood
transfusions, which are used to treat exacerbations. Only used for prevention with stroke
c. Acute Chest Syndrome: pulmonary infarction and infection → severe cough, SOB, chest pain. May
have hypoxia, infiltrate on CXR. Give oxygen, fluids, blood transfusion, pain meds, and antibiotics
d. Splenic sequestration: Risk in young kids, precedes splenic infarction. Symptoms are abdominal
pain, distention, or acute enlargement of the spleen, increasing pallor. Admit to watch for
cardiovascular collapse. Give blood transfusion!

14
 e. 10% have acute stroke: Give partial or simple transfusions to reduce the percentage of sickle cells.
Might give chronic transfusions to reduce the risk of recurrence.
i. Do transcranial Doppler ultrasound at well child visits to identify kids with increased flow
velocity in the large cerebral vessels
f. Aplastic crisis: Sudden severe anemia with low or absent reticulocytes (does not involve reduced
platelets or WBCs, unlike aplastic anemia). Presents with pallor, fatigue or lethargy. Labs show low
Hgb and low reticulocyte count.
g. Priapism in boys: Send to urology if it lasts more than 3-4 hours. Treat with fluids and pain control,
next resort is aspiration or irrigation of the corpora cavernosa. May need a blood transfusion and
surgery.
h. Vaso-occulsive crisis: Risk in dehydration! Be careful with vomiting and diarrhea. Give IV fluids.
i. Stroke: Give blood transfusion stat to decrease the percentage of sickled cells in circulation. Can
monitor for narrowing of arteries with cranial ultrasound if fontanelle is still open
j. Gallstones from increased hemolysis and increased bilirubin production

Sickle cell trait: Have around 50% HgbS (A2, S2), 50% HgbA (A2, B2).
● Generally asymptomatic. Most common symptom is paineless hematuria from sickling in the renal medulla.
Can also have isosthenuria (impaired concentrating ability). Less commonly have increased risk of UTI,
especially during pregnancy. Splenic infarction is rare, but can happen at high altitude

Case 24 from Family Medicine: Pneumonia

Pneumonia = infection of the lungs.

Pneumonitis = inflammation of the lungs from non-infectious source (chemicals, radiation, autoimmune, blood)

Pneumonia symptoms: productive cough, fever, pleuritic chest pain, dyspnea. Rapid breathing in young, altered
mental status in old people.

Diagnosis: CXR, sputum gram stain and culture, blood cultures

● CXR is gold standard, but normal xray does not rule it out. Can be normal early in disease or if dehydrated.
● Cultures have low sensitivity (many false negatives), but positive result can guide treatment
● Exam: look for ronchi or rales, egophony → focal lung consolidation, dullness to percussion → pulmonary
effusion

Potential complications: bacteremia, sepsis, parapneumonic pleural effusions, pneumonia

CA pneumonia
● Typical: Most common in very young and older patients
○ Most often strep pneumo - acute onset, rusty sputum, fever and chills, lobar infiltrate. Give penicillin.
○ H flu: underlying COPD. Give cefuroxime.
○ Moraxella catarrhalis
○ Staph aureus - often follows viral infections (influenza). Give erythromycin.
● Atypical: More often in adolescent and YA’s. Tend to cause bilateral, diffuse infiltrates
○ Mycoplasma pneumoniae - Can ID with direct fluorescent antibody testing on sputum or by PCR of
nasopharyngeal aspirate. Can get hemolysis as antibodies attach to RBCs.
○ Chlamydia pneumoniae,
○ Legionella pneumophila - often have diarrhea, too. Can ID with direct fluorescent antibody testing on
sputum or with urinary antigen testing. Give erythromycin.

Health-care associated pneumonia

● Risk factors: intubation (oropharyngeal is less risky than nasopharyngeal), NG tube feeding, preexisting lung
disease, multisystem failure.

15
 ○ Reduce risk by keeping the head of the bed elevated during tube feedings, infection control techniques
(purel, etc).
● Pathogens: CA pathogens plus aerobic gram negatives (psuedomonas, klebsiella, acinetobacter), and gram
+ cocci like staph aureus. Incidence of drug resistant bugs (MRSA) is increasing.

Others:
● Pneumocystis jiroveci in AIDS patients - see ground glass on CXR
● Apical consolidation in TB
● Aspiration pneumonia → right lower lobe
● Viral pneumonia - slower onset, may see flattened diaphragm from air trapping b/c of bronchospasm

Treatment:
● Determine if the patient needs inpatient or outpatient treatment - toxic appearance, accessory muscle use, low
O2 sat, tachycardia, hypotension, altered mentation?
○ If respiratory distress → ABGs
○ If low O2 sat → oxygen via nasal canula
○ Pneumonia Severity Index - assigns patients a risk category based on age, comorbid illnesses,
specific exam and lab findings.
■ High risk: cancer, liver dz, renal dz, CHF, diabetes
■ Physical exam: tachypnea, fever, hypotension, tachycardia, altered mental status
■ Labs: low pH, low serum sodium, low HCt, low O2 sat, high glucose, high BUN, pleural
effusion on CXR
■ Treat low risk: Classes 1 and 2 as outpatient, higher risk (3,4,5) in hospital
● Start abx.
○ Healthy patients w/ CA pneumonia:
■ Macrolide (azithromycin, clarithromycin)
■ Doxycycline
■ If in an area w/ high macrolide resistance:
● Flouroquinolone (levofloxacin, moxifloxacin)
● Beta lactam + macrolide
○ Hospitalized patients w/ CAP who don’t need ICU - give IV abx
■ Flouroquinolone (levofloxacin, moxifloxacin)
■ Beta lactam + macrolide
○ HA pneumonia requires broader abx - don’t use macrolide or flouroquinolone alone!
■ Beta lactam + fluoroquinolone
■ Beta lactam + aminoglycoside
■ MRSA → vancomycin
● Duration of therapy
○ Strep pneumo: 72 hours afebrile
○ 2 weeks for S aureus, psuedomonas, klebsiella, anaerobes, M pneumo, C pneumo, legionella

Complications
● Strep pneumo
○ Up to 30% get bacteremia! If so, ⅓ die - or 60% in elderly!
○ Pleural effusion in 40% - do thorcentesis w/ gram stain + culture. 5% will get empyema → drain with
chest tube or surgery.

Vaccinations
● Pneumovax for 65 yrs and older, and for any adult with cardiopulmonary disease, smokers, and immune
compromised patients. Revaccinate in 5 yrs if known to have rapid decrease in antibodies - nephritic
syndrome, renal failure.
● Influenza for 6 months and older

16
 Case 10: Pneumonia for Pediatrics

Notes on signs and symptoms:

● Pleural rub: inspiratory and expiratory rubbing or scratching breath sounds heard when inflamed visceral and
parietal pleura come together
● Staccato cough: Coughing spells with quiet intervals, often heard in pertussis and chlamydia pneumonia
○ s to months
● Can have abdominal pain from irritation of the diaphragm by pulmonary infection.
● Fever is not a constant finding! E.g, chlamydia pneumonia is often afebrile.

Causes of pediatric pneumonia

● 60% of pediatric pneumonias are bacterial, most often strep pneumo. Causative bugs are id’ed in only 40-80%
of cases.
● Viruses are also common - RSV, adenovirus, influenza, parainfluenza, enteric cytopathic human orphan
(ECHO) virus, and coxsackie virus. Can diagnose with PCR of nasal secretions.
● 20% can have combined bacterial and viral
● Newborns:
○ Enterobacteriaceae and Group B strep are most common. Others include staph aureus, strep
pneumo, and listeria.
■ Listeriosis: Early onset presents by day 3 with rash, hepatosplenomegaly, rashes. Late onset
presents with purulent meningitis
■ GBS: early onset is in 1st seven days, assoc’ed with complications like prolonged rupture of
membranes and chorioamnionitis. Late onset is due to environmental exposures.
○ Use ampicillin + gentamicin or cefotaxime. Chlamydia pneumonia doesn’t present for several
weeks; causes mild pneumonia.
○ HSV is also a big concern.
● Babies:
○ Chlamydia trachomatis, especially with conjunctivitis (presents 5-14 days after birth, can have blood-
stained eye discharge), staccato cough, tachypnea, eosinophilia, bilateral infiltrates on CXR. Likely to
be afebrile. Transmission typically occurs during vaginal delivery - 25% of babies born to moms with
chlamydia will get conjunctivitis, half of these will get pneumonia. Respiratory symptoms can develop
two weeks to several weeks later!
■ Treat with erythromycin or if older than two months, can also use sulfisoxazole.
○ Viral possibilities include HSV, enterovirus, influenza, and RSV
● > newborn period through 5 years:
○ Viral pneumonia with adenovirus, rhinovirus, RSV, influenza, and parainfluenza.
○ Bacterial includes pneumococcus and H flu.
● > 5 years old:
○ Usually mycoplasma pneumonia, but others are possible except for GBS and listeria.
○ Treat for mycoplasma and strep pneumo - azithromycin or cephalosporins
● Specific scenarios
○ Intubated ICU patient with central lines: Psuedomonas or fungal species like candida
○ Cystic Fibrosis: aspergillosis or psuedomonas
○ Zoster if skin findings and pneumonia
○ CMV if retinitis
○ Legionella if stagnant water
○ Aspergillosis if refractory asthma or fungus ball on CXR
○ Southwestern US - coccidiomycosis
○ Infected sheep or cattle - coxiella burnetti
○ Spelunking or farm work in the midwest - histoplasmosis

Idiopathic Pulmonary Hemosiderosis

17
 ● Appear to have recurrent pneumonias because of fever, respiratory distress, and localized CXR findings. But
actually have pulmonary hemorrhages! Note recurrences, rapid clearing of CXR findings, hemoptysis, and
maybe digital clubbing (chronic process).
● Diagnosis: Microcytic and hypochromic anemia, low serum iron, occult blood in the stool from swallowed
pulmonary secretions. Bronchoalveolar lavage shows hemosiderin laden macrophages.
● Treatment: Some have hypersensitivity to cow’s milk and get better when on diary free diet (Heiner
Syndrome)

Pertussis (bortadella pertussis, gram negative coccobacillus)

● Newborns are at high risk of infection following exposure regardless of mom’s immune status - antibodies
across the placenta won’t entirely prevent the disease. Have to give exposed, susceptible people
erythromycin prophylaxis.
● Immunity following infection is life long, no need for vaccine. Vaccine immunity declines with age, need to
boost.
● 3 phases:
○ (1) catarrhal phase with runny nose and mild cough, lasts 1-2 weeks
○ (2) paroxysmal phase with 20-30 min machine gun like bursts of coughing, with eyes bulging and
watering, followed by post tussive emesis. Lasts 2-6 weeks
○ (3) convalescent phase with resolution of cough and post-cough emesis, takes week
● Diagnose with pertussis PCR testing
● Treat with macrolides (azithro, erythro, clarithro)
● Risk of pneumonia, weight loss from vomiting, subconjunctival hemorrhages, pneumothorax, respiratory failure
and death - especially infants < 6 months because of apnea

Severe coughing spells can cause subcutaneous emphysema (rice crispy crackles) - must get a CXR to rule out
pneumothorax

Case 11: Organophosphate Poisoning

Organophosphate poisoning is the leading cause of non-medicine ingestion fatality in kids. OP’s are found in
pesticides - they irreversibly bind to cholinesterase in neurons, RBCs, and the liver → can’t stop the effects of
acetylcholine at the receptor sites.

Symptoms: Obtundation, seizures, apnea, and DUMBBELS

● Diarrhea/defecation
● Urination
● Miosis
● Bradycardia
● Bronchospasm
● Emesis and Excitation of muscles
● Lacrimation
● Salivation and Sweating

Dx: Decreased serum psuedocholinesterase and erythrocyte cholinesterase levels, but they don’t necessarily
correlate to the level of exposure

Treatment:
● Remove clothing, wash off toxins.
● Ingestions → gastric lavage or activated charcoal.
● Antidotes = atropine (competitive inhibitor), pralidoxime (regenerates AChE if given early) - especially good if
the patient has a lot of muscle weakness, such as needing respiratory ventilation

18
Other toxic exposures:
● Asbestos: Used in construction between 1947 and 1978. Generally sufficient to put up barriers/drop ceilings
● Mercury: GI complaints, ataxia, dysathria, paresthesias
● Arsenic: Nausea, vomiting, abdominal pain, diarrhea. Can prolong QT → SVT. Can also manifest similar to
Guillain Barre.
● Salicylate poisoning: metabolic acidosis and respiratory alkalosis (tachypnea), hyper or hypoglycemia,
aciduria, dehydration, lethargy. Treat with sodium bicarbonate and acetazolamide to increase excretion in
urine.
● Heavy metals: treat with dimercaprol
● Hydrocarbons (gas, kerosine, furniture polish): Can cause respiratory distress from aspiration! 6 hours
after aspiration → dyspnea, cyanosis, and respiratory failure. Treatment is symptomatic, may need to ventilate.
Don’t induce vomiting, can cause more aspiration!
● Drain cleaner: Do endoscopy in 12-24 hours to check extent of mucosal damage. Don’t induce vomiting
(reexposure to caustic chemicals) or give large amounts of milk or water (risk of inducing vomiting)
● Tricyclic antidepressant: sodium bicarbonate to correct acidosis. TCAs include the -iptylines and -
impramines: amitriptyline, nortriptyline, imipramine, desipramine, clomipramine, doxepin, amoxapine (last two
are oddball names)

Activated charcoal: Can be used to adsorb particles of toxins. Works for phenobarbital, TCAs (but give bicarb as 1st
line), and theophylline. Doesn’t work for alcohol, acid, ferrus sulfate, or strong bases.

Case 12: Rectal Bleeding

Tagged RBCs can be used to scan for low flow bleeds

Anal fissures are the most common causes of hematochezia in infants, kids, and adolescents!
● Minimize foods known to be constipating (diary), increase water intake, and avoid bulking agents like fiber and
psyllium

In newborns, the cause of hematochezia is most often a life threatening condition, but benign causes are more likely in
infants and kids

Allergic Proctocolitis:
● Allergy to protein in cow’s milk, which is used in standard infant formulas. Soy protein is similar and the cow
protein can cross over into breast milk!
● Example: Usually presents < 3 months with blood streaked stools and many stools per day, no other
symptoms. But can progress to enterocolitis with severe diarrhea, malabsorption, vomiting, and dehydration.
More common in boys. May have family history of atopy.
● Can give elemental formulas made with AAs.

Meckel diverticulum
● Pouch off the ileum b/c of a remnant of the omphalomesenteric duct. The endothelium can undergo
metaplastic change → gastric mucosa that secretes acid and causes ulceration in the adjacent ileal tissue.
● Symptoms = intermittent painless rectal bleeding that usually appears < 2 years.
● Diagnose with a Meckel radionucleotide scan = technetium-99m scan for gastric mucosa. Treat with
surgical excision to prevent rebleeding, obstruction, and diverticulitis

Necrotizing enterocolitis: 75% in preterm infants, only 25% in term infants

Swallowed blood syndrome: Day 2-3 of life. Baby swallows blood from delivery or mom’s nipple → blood in stool.
Apt-Downey test distinguishes fetal blood from maternal blood - should be first test when a baby has hematemasis or
meconium

19
Hemorrhagic disease of the newborn: Risk in babies that don’t get Vitamin K - e.g., if born at home.

Hirschsprung disease: Delay in passing meconium after birth

Intussusception:
● Common cause of intestinal obstruction in kids < 2 years old.
● Peristalsis tries to propel bowel contents past the obstruction → episodic severe colicky pain, patient is
calm/lethargic between episodes.
● Only 60% of kids have the classic red currant jelly stool.
● Air contrast enema is diagnostic and therapeutic

Case 13: Acute Otitis Media

Most common causes of AOM are strep pneumo, nontypeable H flu, and Moraxella catarrhalis. Viruses can also cause
AOM.

Symptoms = fever, ear pain, and generalized malaise. Can have systemic symptoms. Most specific symptom is
bulging drum.
● If kid is > 2 years and has few symptoms, can do watchful waiting. Otherwise start with amoxicillin for 10
days.
○ If it doesn’t work within 3 days, can broaden abx coverage (augmentin, etc). If several abx don’t work
→ tympanocentesis and culture of middle ear fluid
● Can also give pain and fever meds. Decongestants, antihistamines, and corticosteroids are not indicated!
● Middle ear fluid can last several weeks! If it doesn’t resolve or if recurrent episodes of suppurative OM occur,
esp. if hearing loss, myringotomy with PE tubes is often used.

Complications of AOM
● Mastoiditis: watch for ear lobe pushed superiorly and laterally. Can require CT scan to confirm. Surgical
emergency! Can lead to brain abscess.
● Temporal bone osteomyelitis
● Facial nerve paralysis
● Very young kids (infants, etc) with OM are at higher risk for bacteremia or other serious infection - especially if
irritable or lethargic. Hospitalization or other parenteral antibiotics are often indicated.
○ Strep pneumo bacteremia: Kid will have sudden onset high fever and high WBC count

Cholesteoma: suspect if continued ear drainage for several weeks despite appropriate abx. Can be congenital or
acquired. Chronic middle ear disease can lead to the formation of a retraction pocket that can fill with pus and skin
debris.
● Complications = hearing loss, cranial nerve palsies, vertigo, brain abscess, meningitis

Otitis externa aka swimmer’s ear = caused by psuedomonas, staph aureus, sometimes fungus (candida,
aspergillus)

Case 14: Neonatal Resuscitation

APGAR Scores: Do at 1 minute to evaluate well being just before delivery. If 1 minute score < 3 → resuscitate
immediately! But in practice, HR, color, and RR are used to determine need for resuscitation. 5 minute score is a
measure of how successful resuscitation was.
1. Appearance/Color: 0 if blue and pale, 1 if body is pink but extremities are blue (acrocyanosis), 2 if completely
pink
2. Pulse/HR: 0 if absent, 1 if < 100 bpm, 2 if > 100 bpm
20
 3. Grimace/Reflex: (response to catheter in nose): 0 if no response, 1 if grimace, 2 if cough or sneeze
4. Activity/Tone: 0 if limp, 1 if some flexion of extremities, 2 if flexion and active motion
5. Respiration: 0 = no effort, 1 = slow or irregular, 2 = good effort and crying

Baby born blue and floppy → evaluate HR and respiration

● If irregular respiration or HR < 100 bpm → PPV by bag mask. Give naloxone if narcosis (e.g., meperidine
during delivery)
● If HR < 60, give chest compressions

If mom gets meperidine during delivery → baby can end up with narcosis = deep stupor or unconsciousness.
● Give naloxone for meperidine, not for general anesthesia (not opiates)
● In response to positive pressure ventilation, will have good HR but poor respiratory effort.

Other cases:
1. Baby born limp, apneic, bradycardic, + covered in meconium Intubate with an endotrach tube and suction
meconium out
2. Diaphragmatic hernia: Baby born w/ cyanosis, respiratory distress, scaphoid abdomen, heart sounds on right
side & decreased on left side. Herniated bowel into chest → pulmonary hypoplasia. Do endotrach intubation!
Bag mask will increase bowel gas and make it worse!
3. Baby born lethargic with HR of 40: If HR < 60 despite PPV with 100% oxygen, then do chest compressions
for 30 seconds. If HR still < 60 → epinephrine
4. Choanal atresia! Crying baby appears normal, but respiratory distress when she stops crying. When crying,
can breathe through mouth. But otherwise obligate nose breather until 4 months.
a. May be part of CHARGE syndrome: Colomboa, Heart defects, Atresia of the choanae, Renal
anomalies, Growth impairment, and Ear abnormalities/dearfness

Case 15: Cerebral Palsy

“Static” CNS dysfunction, usually caused by prenatal insult. Static in the sense that there is no ongoing degeneration,
but the actual manifestation can change over time (worsening contractures, etc). Most common childhood movement
disorder = 3-4/1000 births.
● ⅓ have seizures, 60% have mental retardation
● Hemiplegia vs. diplegia = all four extremities, LEs > UEs

Nearly impossible to diagnose at birth because of CNS immaturity. Clinical exam at birth is a better evaluation than
Apgar scores.
Diagnose when the kid fails to meet milestones → MRI, vision and hearing testing, maybe genetic testing.
● Examples of concerning findings: Moro reflex > 6 months, stepping response > 3 months, assymetrical tonic
neck reflex > 6 months
○ Stepping reflex: The walking or stepping reflex is present at birth, though infants this young cannot
support their own weight. When the soles of their feet touch a flat surface they will attempt to 'walk' by
placing one foot in front of the other. This reflex disappears at six weeks due to an increased ratio of
leg weight to strength. It reappears as a voluntary behavior around eight months to one year old.
○ Tonic neck reflex: When the child's head is turned to the side, the arm on that side will straighten and
the opposite arm will bend (sometimes the motion will be very subtle or slight). If the infant is unable to
move out of this position or the reflex continues to be triggered past six months of age, the child may
have a disorder of the UMNs

Classify severity based on motor quotient = age when most children hit a milestone/age when patient hit the
milestone. E.g., walking at 14 months (most kids)/walking at 30 months = 0.48.
● Minimal = 75% and up
● Mild = 55 to 70%

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 ● Moderate = 40 to 55%

Case 16: Cystic Fibrosis

Triad of COPD, pancreatic exocrine deficiency, and abnormally high sweat electrolyte concentrations. Mean survival is
now > 35 years.
● Lungs: Most have bronchiectasis by 1.5 years, but some might not have symptoms for several years. Bacterial
PNA caused by staph aureus, later psuedomonas (heavy, slime producing mucoid variety). Virtually
impossible to get rid of the bugs.
○ Often misdiagnosed as asthma - but clubbing is unusual in asthma and unusual in children. It
signals chronic pulmonary, cardiac, GI, or hepatic disease. Also look for nasal polyps.
○ Complications = PTX, hemoptysis, cor pulmonale
● Pancreas: Causes poor growth, abdominal distention, rectal prolapse, steatorrhea, meconium ileus, vitamin
ADEK deficiencies
○ Vitamin E deficiency → peripheral neuropathy and hemolytic anemia
○ Meconium ileus = obstruction that begins in utero → underdevelopment of distal colon (looks
narrow). May see echogenenic bowel on prenatal ultrasound, then tiny colon from nonuse at birth.
Almost always cystic fibrosis! It is a surgical emergency! Can get volvulus and perforation with
peritonitis.
● Liver: get fatty liver infiltration or focal biliary cirrhosis in many patients → hepatomegaly, esophageal varices,
hypersplenism in teens, and cholethiasis in adults. Babies can have prolonged jaundice from blocked ducts.
● High sweat sodium chloride → hyponatremic, hypochloremic, metabolic alkalosis

Diagnosis = positive sweat test (=pilocarpine iontophoresis) + (typical COPD OR exocrine pancreas deficiency OR
positive family history)
● Sweat tests have false negatives and false positives! False negatives especially with edema and
hypoproteinemia. False positives with anorexia, hypothyroid, and nephrogenic diabetes
● Genetic testing is an option. 90% are found to have two gene mutations, but sometimes can’t detect in other
kids. Delta 508 on chromosome 7 is most common.
● Infant screening is a blood test for high levels of pancreatic enzyme immunoreactive trypsinogen (IRT test)
- follow up with second IRT test or limited DNA testing. Can have false negatives! Do further testing if
symptomatic.
● Can also do fecal elastase testing

CF infections:
● Pnuemonia:
○ Staph aureus is the most common cause of pneumonia in kids with CF, especially with influenza
infection. Treat with IV vancomycin.
○ In adults, psuedomonas is a more common cause of pneumonia - kids just haven’t been colonized yet.
Treat adults with amikacin, ceftazadine, or ciprofloxacin
● Aspergillosis is less common in kids than adults - would treat with itraconazole or voriconazole

Case 17: Acute Lymphoblastic Leukemia

Leukemia is 40% of childhood cancers.

● Increased risk with Klinefelter (XXY), Bloom syndrome, Fanconi syndrome, ataxia telangectasia,
neurofibromatosis and chromosomal disorders like Down syndrome
● 75% is ALL, which peaks 2-4 years, boys > girls. Increased risk with Down syndrome, Fanconi anemia. If one
identical twin has it, > 70% chance that the other twin will two. Siblings have 2-4x increased risk
● 20% is AML

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Symptoms of ALL: leg and joint pain, fever, petechiae, hepatosplenomegaly - caused by bone marrow
replacement with cancer cells. WBC count can be high or low!!
●

Best initial screening test is CBC with differential, but almost 50% of kids with leukemia have WBC < 10k! → often
need a bone marrow exam to diagnose!
● Normally have < 5% blasts - if > 25% blasts → leukemia.
● Also do LP and CXR - look for cancer in CSF and mediastinum
● Lymphobasts are PAS positive (no auer rods) and pre B and pre-T cells are positive for TdT

Better prognosis: Girls, B cell

Worse prognosis:
● Boys, hispanic or African American, < 1 year, > 10 years,
● T cell type
● t(9;22) in pre-B ALL = philadelphia chromosome, t(4;11) in AML
● BC > 50k, lots of blasts in the CSF

Treatment:
1. Induce remission with prednisone, vincristine, and asparaginase
2. CNS intrathecal therapy: reduces CNS relapse from 50% to 3-6%
3. Consolidation and intensification to further target residual cancer cells - give multiple chemotherapies in a
short period
4. Maintenance with methotrexate, 6-mercaptopurine, vincristine, and prednisone for 2-3 years

Hold off on vaccinations during chemo.

● Live vaccines are contraindicated until > 6 months after treatment for the kid and for all members of the
household
● Inactivated vaccines aren’t contraindicated, but they won’t do much good because of immunosuppression

Differential:
● Idiopathic thrombocytopenic purpura: Common in kids, often follows viral infection. Platelet levels < 20k →
bleeding and petechiae. But no anemia, hepatosplenomegaly, or leukocyte disturbances. Treat w/ observation,
IVIG, IV anti-D in Rh+ kids, immune suppression, steroids.
● Aplastic anemia: pancytopenia and fever. But rare to have lymphadenopathy, arthralgia, bone pain, or
hepatosplenomegaly.
● EBV, other viral illness: Fever, malaise, adenopathy, splenomegaly, lymphocytosis. Atypical lymphocytes are
common with these diagnoses!
● Juvenile rheumatoid arthritis: Fever, arthralgias, limp. Can even have anemia, leukocytosis, mild splenomegaly
→ confusion! On CBC, leukocytes and platelet counts are normal to increased with no blasts.
● Leukemoid reaction: bacterial sepsis, pertussis, acute hemolysis, granulomatous disease, vasculitis. Resolves
when underlying condition is treated.
● Other cancers infiltrate the marrow in clumps: Can cause pancytopenias. Includes rhabdomyosarcoma, Ewing
sarcoma, retinoblastoma, neuroblastoma

Hodgkin disease: Swollen glands, increasing cough, fevers, weight loss. Might look otherwise healthy.
● Next step is CXR to look for mediastinal mass. Then biopsy the node. CBC will not be diagnostic, but may
show nonspecific findings of anemia, neutropenia, or thrombocytopenia

Case 18: Infant of Diabetic Mom

Gestational diabetes: Fasting glucose persistently > 95. Screen at 24-28 weeks.
Hypoglycemia: < 40

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Maternal hyperglycemia → fetal hyperinsulinemia → fetal macrosomia (weight > 90%), but normal height and
head circumference because insulin doesn’t affect bone or brain growth.
● Big size means increased fetal oxygen requirements, and placental insufficiency can lead to perinatal asphyxia
and increased EPO.
○
○ Can cause neonatal respiratory distress and hyaline membrane disease. Hyperglycemia →
hyperinsulinemia → lower levels of cortisol → delayed maturation of pulmonary surfactant production
● Can also be small from hypoxia.
● After delivery, can get hypoglycemia! Lethargy, listlessness, poor feeding, temp instability, apnea, cyanosis,
jitteriness, tremors, seizures, respiratory distress
○ If 25-40 → feed immediately. < 25 → IV glucose
● Congenital malformations result from hyperglycemia early in pregnancy.
○ Congenital heart disease: watch for poor color and tone, limited respiratory effort, weak/slow pulse,
persistent perioral cyanosis
○ Neural tube defects
○ Small left colon: presents with failure to pass meconium during first 2 days of life → abdominal
distention and vomiting
○ Caudal regression syndrome = hypoplasia of the sacrum and lower extremities, rare and generally
only with IDM.

Polycythemia (Hct > 65) with hyperviscosity, hypocalcemia, hypomagnesemia, and hyperbilirubinemia.
● Risk factors: maternal diabetes, delayed cord clamping (extra placenta blood goes to baby), and maternal
hypertension (impairs placental flow)
● Most often manifests as lethargy, jitteriness, and irritabilty. Can manifest as respiratory distress with
tachypnea, cyanosis, and poor feeding - increased viscosity impairs blood flow to organs
● Polycythemia is dangerous! If asymptomatic, treat with hydration (LR or NS). If symptomatic, treat with partial
exchange transfusion.
○ Can cause sinus and renal thrombosis - renal vein thrombosis presents as an abdominal mass. Often
oliguria, some will have hematuria and thrombocytopenia
○ Can cause NEC
○ Can cause seizures from thrombosis or just sludging of blood in the cerebral microcirculation
○ Jaundice - test total bilirubin and Hct
● Hypocalcemia from increased cellular uptake → irritability, sweating, seizures. Happens because delay in
synthesis of PTH or decreased sensitivity. Can happen with polycythemia in general - not just from diabetic
mom (e.g., twin to twin transfusion syndrome). Also hypomagnesemia.
● Hypoglycemia from increased cellular uptake

Infant of mother with hyperthyroid:

Risk of thyrotoxicosis - tachycardia and tachypnea, irritability, hyperactivity, low birth weight with microcephaly, severe
vomiting and diarrhea, thrombocytopenia, jaundice, hepatosplenomegaly, heart failure. If severe, can be fatal if not
treated.

Hypothyroid baby: lethargy, poor feeding, delayed reflexes, persistent jaundice, hypotonia

Panhypopituitarism: apnea, cyanosis, severe hypoglycemia

Case 19: Gilbert Syndrome

1. Physiologic jaundice: Onset on Day 2-3 with bilirubin less than 12, mainly unconjugated. Disappears by the
end of the first week.
a. Happens in 60% of term and 80% of preterm because of limited ability to conjugate.

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 b. Risk factors =
i. Maternal diabetes, polycythemia, cephalohematoma/bruising/swallowed maternal blood,
ii. Prematurity, male, Asian,
iii. Down syndrome, delayed bowel movement or upper GI obstruction,
iv. Hypothyroid,
v. Sibling with physiologic jaundice

2. Nonphysiologic jaundice
a. Higher levels of BR, persists longer
b. Causes include
i. Septicemia,
ii. Biliary atresia: conjugated hyperBR (direct > 20% of total) in the first 2 months with clay
colored stools, dark urine, and enlarged liver
iii. Hepatitis
iv. Galactosemia: Galactose 1P uridyl transferase deficiency → can’t digest galactose in cow’s
milk or breast milk → jaundice, vomiting, growth failure.
v. Hypothyroid,
vi. CF,
vii. Congenital hemolytic anemia (spherocytosis, Rh or blood type incompatibility),
1. Spherocytosis: will see spherocytes on sphere. Can manifest anemia in first day of
life. Do the glycerol osmotic fragility test or the eosin-5-maleimide test
viii. Drug-induced
ix. Gilbert’s syndrome: can look like extended version of physiologic jaundice. More likely to
look jaundiced after fasting. Caused by decreased activity of UDP glucuronyl transferase -
happens in 2-10%.
1. Severe impairment = Crigler Najjar syndrome. Presents with high BR and
encephalopathy
x. Dubin Johnson: AR defect in transporting conjugated bilirubin. End up with high direct
bilirubin. Usually asymptomatic except for mild scleral icterus.
c. If appears within 24 hours, needs immediate attention!
i. Erythroblastosis fetalis
ii. Hemorrhage
iii. Sepsis
iv. Cytomegalic inclusion disease
v. Rubella
vi. Congenital toxoplasmosis
d. Breast milk jaundice: High levels of beta glucuronidase in breast milk deconjugate intestinal bilirubin
and increase enterohepatic circulation. Appears in 2-3 weeks, can reach levels up to 30. Levels
gradually decrease with continued breastfeeding or can substitute formula for 12-24 hours and levels
rapidly drop
e. Breast feeding failure jaundice: Failure of lactation in the first week of life → dehydration and
inadequate stooling → increased enterohepatic circulation of bilirubin and decreased bilirubin
elimination. Might also see brick red urate crystals in the diaper (sign of dehydration)
i. Treat by increasing breastfeeds if possible - normal for newborn is 10-20 mins/side every 2-3
hours

Unconjugated BR → kernicterus: Risk when BR is > 18 or 20.

● Lethargy, poor feeding, followed by toxic appearance with respiratory distress and decreased DTRs. Can look
like sepsis, asphyxia, hypoglycemia, and intracranial hemorrhage
● Risk increased with acidosis and sepsis → increases BBB permeability, hypoalbuminemia → reduced ability to
transport unconjugated BR to the liver, and drugs that displace BR from albumin.
● Risk decreased with phenobarbital - induces glucuronyl transferase, which reduces jaundice

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Diagnosis and treatment:
● Full term, asymptomatic, low risk → monitor serum bilirubin
● Significant hyperBR → get indirect/direct levels, Hgb, retic count, blood type, Coombs tests (indirect = look for
antibodies to RBCs in the blood, direct = look for antibodies attached to RBCs), peripheral blood smear exam
○ Can measure BR with noninvasive, transcutaneous measurement!
● Treat with phototherapy to solubilize the BR and render it excretable.
● Exchange transfusion if conservative measures aren’t enough

Case 20: Asthma

Asthma exacerbation is characterized by the triad of bronchoconstriction, airway inflammation, and mucus plugging.
Median age of onset = 4 years.
● Mechanism: Mast cells release IgE within 15-30 mins of the trigger. Causes vasodilation, increased vascular
permeability, smooth muscle constriction, and mucus secretion. Then 2-4 hours later, get the late phase
reaction = infiltration of inflammatory cells into the airway parenchyma → chronic inflammation.
Hyperresponsiveness can then last for a week.
● Risk factors: atopy, family history of asthma, RSV bronchiolitis early in life (40-50% of kids get asthma!)
● Half of kids grow out of asthma by young adulthood - less likely if have heavy exposure to environmental
triggers (smoke, pollution, allergens)

Pulsus paradoxus:Blood pressure varies in amplitude with respiration more than normal (> 10 mm Hg). Suggests
obstructive airway disease, pericardial tamponade, or constrictive pericarditis.

Initial management of asthma exacerbation: Oxygen, inhaled beta agonist, systemic dose of prednisone. May need
IVF. Get stat blood gases and monitor O2 sats.
● Paucity of wheezes can signal severe airway obstruction and reduced air movement! Wheezing is likely to
increase as therapy allows more air movement.

Treatment:
1. Classify asthma as intermittent or persistent
a. Intermittent
b. Persistent
i. Mild
ii. Moderate
iii. Severe
2. Identify triggers and minimize exposure
3. Medicines
a. Beta adrenergic agonists - reverse bronchoconstriction fast but do not inhibit the LPR. Can use prior to
trigger exposure or exercise to minimize the asthma response
b. Anticholinergics - inhibit the vagal response. Good for acute management, but little value for chronic
management
c. Anti-inflammatory agents -
i. Corticosteroids are the most potent. Can use acutely (oral or IV prednisone, prednisolone)
or inhaled forms for chronic therapy
ii. Others: cromolyn and nedocromil. Become effective after 2-4 weeks, only good in 75% of
patients
d. Leukotriene modifiers - safe and effective anti-inflammatory meds in some patients

Sudden onset of respiratory symptoms in an infant → most likely bronchiolitis. Often caused by RSV and influenza A.
● CXR often shows hyperinflated lungs with areas of atelectasis
● Risk of apne and respiratory failure, especially if < 2 months. Risk of subsequent bacterial pneumonia is very
low.

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 ● Initial treatment = oxygen, supportive therapy. Could do a trial of nebulized albuterol or epinephrine

Case 21: Growth Hormone Deficiency

Height age: the age at which a child’s measured height is at the 50th percentile

Constitutional growth delay: healthy child is growing more slowly than expected but still at a normal rate - usually
parallels the 3rd or 5th percentile AND one or both parents had the same issue and ultimately grew to normal height.
Growth rate slows down before age 2 and rate normalizes > age 2.
● The bone age = height age → indicates “extra” growth potential
● Monthly testosterone injections can hasten puberty, which would eventually begin on its own without
treatment. May be indicated depending on how the kid is handling the psychological ramifications of being
shorter than his/her peers.

Familial short stature - bone age = chronologic age, indicating no “extra” growth potential
● Predict boy’s final height = (father’s height + mom’s height +13 cm or 5 in)/2.
● Predict girl’s final height = (father + mother - 13 cm or 5 in)/2

Growth hormone deficiency: 1 in 4000 kids. Slow growth rate that falls away from a normal curve. Often appear
younger than age and often chubby (weight age > height age).
● Bone ages are delayed, indicating catch up potential.
● Screen with IGF-1 or somatomedin C and IGF-BP3, confirm with GH stimulation testing
● Treat with recombinant GH for several times per week until child reaches full adult height

Suspect a primary problem causing poor growth if: poor appetite, weight loss, GI symptoms, unexplained
fevers/HA/vomiting, weight gain out of proportion to height, dysmorphic features.
● Anemia → CBC
● Chronic inflammatory disease → ESR
● Acidosis, renal abnormalities → electrolytes
● Hepatitis, liver dysfunction → comp
● Infection, renal disease → urinalysis
● Turner syndrome → chromosomal analysis
● Hypothyroid → thyroid function tests. See delayed bone age. Growth should return to normal with treatment.

Case 22: Group B Strep Infection

Sepsis in first week = early onset. 85% are in the first day. Infection is usually from mom’s GU tract.
● GBS, E coli, H flu, listeria
● Treatment: IV aminoglycosides (gentamicin, tobramycin) or penicillin (often ampicillin) - empiric treatment
combines both of them

Group B strep: Most common cause of neonatal sepsis from birth to three months! Initial findings are often respiratory
signs or hypotension. Half develop seizures within 24 hours.
● Risk factors: prolonged rupture of membranes (> 18 hours), signs of early distress (apnea, hypotension, low
apgar), low birth weight, prematurity
● Mortality is 10%! Another 12-30% have major neuro impairment.
● Prevention is key! Screen and treat mom at 35-37 weeks. Do CBC and blood culture for preemies < 35 weeks.

Listeria: Baby can get it from placenta or from aspiration/ingestion at delivery. Mom will have flulike symptoms during
pregnancy
● Early onset: Meconium, diffuse erythematous pustular rash, pallor, poor feeding, cyanosis. Marked
monocytosis.
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 ● Mortality from early onset is 30%.

Sepsis > 1 week = late onset sepsis: Sepsis after 7 days. Usually from caregiver’s environment.
● Often staph aureus, E coli, klebsiella, pseudomonas, enterobacter, candida, GBS, serratia, actinobacter, and
anaerobes
● Treatment = vancomycin or 2nd, 3rd gen cephalosporin

Signs and symptoms of neonatal sepsis can be subtle and nonspecific. E.g. hypoglycemia, metabolic acidosis,
jaundice. Temp instability, tachypnea, hypotension, and bradycardia are common in sepsis and meningitis.
● If suspect sepsis, treat for at least 48-72 hours. Can continue treatment even with negative cultures if clinical
suspicion is high
● Overwhelming shock is signified by pallor and poor capillary refill.
● Must do a blood culture if suspect sepsis!

Transient Tachypnea of the newborn:

Incomplete evacuation of fetal lung fluid, more common in c sections. Can present as increased work of breathing and
tachypnea in first hour. Usually goes away in 1-2 days and doesn’t require treatment unless baby needs O2. Suspect if
the baby is otherwise well (vigorous suck, good tone, good color) - will not cause CBC abnormalities or temp instability.

Conjunctivitis
1. Chemical: self limited, presents in the first several hours of birth and results from ocular prophylaxis irritation
2. Gonococcal: 2-5 days after birth, give systemic abx. Very serious.
3. Chlamydia: 5-14 days after birth, treat with systemic erythromycin to prevent pneumonia. Does increase the
risk of hypertrophic pyloric stenosis.

Neonatal tetanus: Seen in infants born to unimmunized moms, often after umbilical stump infection. Presents in first 2
weeks with poor suckling and fatigue, followed by rigidity, spasms, and opisthotonus. High mortality due to apnea in
1st week, sepsis from umbilical infection in second week.

CASE 23: SIDS

ALTE: Can be cardiac, respiratory, CNS, metabolic, infectious, GI. 50% unknown cause.
● If feeding difficulties or emesis → do a swallow study
● If unusual posturing/movements → EEG
● Can consider EKG for prolonged QT or cardiac anomaly

Apnea: No breathing for at least 20 seconds. Preemies often have this, usually resolves by 37 weeks post gestational
age
● Apnea of prematurity does not increase risk of SIDS!

SIDS: Most common cause of infant death 1 week - 1 year, especially 2-4 months. Must follow up with death scene
investigation to rule out trauma (intentional and accidental)
● More common in winter, with African American and Native American babies. Non-obvious risk factors: smoke
exposure, prenatal opiates, overheating, male gender
● Home monitoring: Does not decrease risk of SIDS in most cases. Only indicated for symptomatic infants
(apnea and bradycardia)
● Pacifier use is protective

Case 24: Ventricular Septal Defect & Non-Cyanotic Congenital Heart Defects

Widened Pulse Pressure: Increased difference between SBP and DBP, causing bounding arterial pulse - can happen
with fever, hyperthyroid, anemia, AV fistulas, and PDA
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LESIONS WITHOUT CYANOSIS

L → R shunt: Cause pulmonary congestion, but not typically cyanosis - most conditions without cyanosis involve L →
R shunts. Can get systemic hypoperfusion from obstructive lesions (pulmonic/aortic valve stenosis, coarctation of the
aorta).
● Can eventually get Eisenmenger syndrome: Pulmonary HTN from L → R shunting of blood. Can happen with
large VSDs, atrioventricular canal lesions, and PDA

Ventricular Septal Defect: Most common heart lesion in kids

● Signs: Holosystolic murmur at left sternal border, progressive worsening of respiratory distress and wheezing.
Murmur develops at 2-6 months with the fall in pulmonary vascular resistance that occurs in the weeks after
birth
● Small defect:
○ Usually asymptomatic. Harsh, holosystolic murmur at the left sternal border. Murmur develops at 2-6
months with the fall in pulmonary vascular resistance that occurs in the weeks after birth. Evaluate
with an echo to determine the location and size and rule out other defects
○ 75% close spontaneously by 2 years with no long term problems!
● Large VSD:
○ Murmur may be less harsh because less of a pressure gradient across the defect. Softening of
murmur can indicate increasing pulmonary resistance!
■ Generally get increased PVR after 1 year, but can happen earlier. Can be irreversible
(Eisenmenger) by age 2.
○ Dyspnea, feeding difficulties, growth failure, profuse sweating. Can lead to infections and heart
failure.
○ Usually not cyanotic, but may become dusky during feeding or crying
○ CXR: cardiomegaly and pulmonary vascular congestion, EKG shows biventricular hypertrophy
○ Treatment: Tx like heart failure - diuretics (furosemide, chlorothiazide), afterload reduction (ACE
inhibitor), sometimes digoxin. Need extra calories.

Patent Ductus Arteriosus: In utero, ductus sends blood from pulmonary artery to the aorta to bypass the lungs
● Usually closes by 10-15 hours after birth as pulmonary resistance decreases in response to oxygen. Almost
always closes by 2 days. Can be delayed with preemies, maybe impaired vasoconstrictive response
● Small PDA:
○ Usually no symptoms, close with indomethacin or surgically (if medical therapy fails or is CI’ed)
because of the risk of infective endocarditis and paradoxical emboli
● Large PDA:
○ Machine like continuous or holosystolic murmur along the left sternal border, active precordium,
widened pulse pressure. Close to treat heart failure and prevent Eisenmenger syndrome
● Ductus dependent lesions: PDA can be important for maintaining blood flow to systemic circulation
(coarctation or interruption of the aortic arch) or to the lungs (obstructed pulmonary valve). Keep ductus open
with prostaglandin E.

Atrial Septal Defect: Often asymptomatic. Isolated PFO is not considered an ASD
● Fixed splitting of S2, systolic murmur in the pulmonic region (increased flow through pulmonary artery), maybe
diastolic murmur in the tricuspid region (increased flow across the valve). CXR shows enlarged right atrium,
right ventricle, and pulmonary artery with increased pulmonary vascularity.
● Generally well tolerated during childhood but can cause pulmonary HTN in adulthood or atrial arrhythmias from
atrial enlargement
● Large ASD: cause cause mild growth failure and exercise intolerance.

Atrioventricular Septal Defect = AV Canal Defect = Endocardial Cushion Defect

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 ● Contiguous atrial and ventricular septal defect with abnormal mitral + tricuspid valves. Can distinguish from
ASD because complete atrioventricular septal defects cause heart failure early in infancy.
○ Associated with Down Syndrome (ostium primum) and with Thrombocytopenia Absent Radius
Syndrome (can also have tetralogy of fallot)
● Systolic murmur of increased pulmonary flow, lower left sternal border murmur (tricuspid valve), may have
wide fixed split of S2 or a single S2
● CXR and EKG: enlarged heart, increased pulmonary vascularity
● Must correct in infancy to prevent heart failure, growth failure, and recurrent pulmonary infections

Antibiotic prophylaxis (e.g., dental procedures)

1. Previous hx of endocarditis
2. Prosthetic valve or material for repair
3. Heart transplant
4. Severe or partially repaired cyanotic (R → L) congenital heart defects

Endocarditis: Kids at greatest risk are those with unrepaired cyanotic heart disease, prosthetic material from a
previous repair, or prior history of endocarditis.
● Can present as fulminant disease with shock, but subacute form presents with low grade fever, weight loss,
lethargy, sleep disturbances, arthralgias, and myalgias. Classic signs like tender osler nodes on fingers and
toes, janeway lesions (nontender hemorrhagic lesions on hands and feet), and splinter hemorrhages are rare.
● Usually strep viridans and staph aureus, but can be coagulase negative staph, strep pneumo, and HACEK
bugs (haemophilus, actinobacillus, cardiobacterium, eikenella, and kingella). If have a positive blood culture,
admit, begin vancomycin, and repeat cultures.

Benign murmurs
1. Benign Pulmonary Flow Murmur: Systolic murmur in the pulmonary region that does not radiate, has no
click, and no signs or symptoms of cardiac disease (clubbing, cyanosis, exercise intolerance)
2. Peripheral Pulmonic Stenosis: moderate intensity murmur in the mitral area that radiates to the back. Similar
murmur noted in the right axilla. Baby shows no signs of heart problems.
3. Venous hum: low pitched murmur heard at the sternal notch or under the clavicle only when the kid is upright
4. Still vibratory murmur: high pitched musical systolic murmur heard best at the left sternal border in the
supine position

Congestive heart failure: pallor, dyspnea, tachypnea, tachycardia, and cardiomegaly are all common signs
regardless of the cause of CHF

Myocarditis: Most common causes are adenovirus and coxsackievirus B. Watch for heart failure symptoms after viral
illness - can mix up with pneumonia! Dyspnea, syncope, tachycardia, cardiomegaly, hepatomegaly, nausea,
vomiting
● ECG shows ventricular and left atrial dilation and poor ventricular function.
● Can have new holosystolic murmur in the mitral region = mitral regurgitation from dilated myocardium!
● Treat with diuretics and ionotropes

Glycogen storage diseases: Heart wall thickens

Irregular rhythms
● Supraventricular tachycardia: HR > 250 with little rate variability and a P wave before every QRS. Treat with
carotid massage, immersion of the face in cold water, or voluntary straining. If not successful, give IV
adenosine. Verapamil is contraindicated in babies because can cause acute hypotension and cardiac arrest.
○ Wolf Parkinson White: 70% of WPW syndrome have episodes of SVT - especially triggered by OTC
sympathomimetics. Will become pale, stop running around, and then resume play later.
● Bradycardia: Treat with transthoracic pacing

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 ● V fib with acute arrest: Precordial thump might help
● Prolonged QT syndrome: causes syncope during late childhood or early adolescence. Might see arrhythmias
during episodes, esp v fib. Treat with propranolol and pacemaker if symptomatic.
○ Jervell-Lange-Nielsen syndrome: Autosomal recessive, associated with deafness
○ Romano-Ward syndrome: Autosomal dominant

Neonatal lupus: Rare manifestation of maternal IgG antibodies. Thrombocytopenia, neutropenia, rash, liver
dysfunction, and congenital heart block - all but the heart block resolves. Heart requires pacing.

Hypertrophic cardiomyopathy: Autosomal dominant, esp common in African-Americans

● Murmur decreases when LV size increases, because outflow obstruction is reduced - so increasing preload
and increasing afterload will decrease the murmur. Conversely, reducing preload and reducing afterload will
intensify the murmur (e.g., valsalva)

Fibromuscular dysplasia: The most common cause of secondary HTN in kids, causes 20% of renal HTN. \
● Will have a hum or bruit in the costovertebral angle due to well-developed colaterals. Angiography shows a
string of beads pattern on the renal artery.

Case 25:Transposition of the Great Arteries & Cyanotic Congenital Heart Defects

Cyanosis - peripheral cyanosis is common, may be normal. Central cyanosis is always abnormal! Involves tongue,
gingiva, buccal mucosa.

R → L shunts cause cyanosis!

● Characterized by decreased pulmonary artery blood flow → blue blood bypasses the lungs and goes to the
body. Occurs whenever pulmonary blood flow is decreased
○ Pulmonary stenosis, TGA
● Often manifests after the PDA closes (ductus dependent lesion), can keep it open with PGE
● Can diagnose R→L shunt across the ductus by comparing the pulse ox readings of the body areas served
prior to the ductus (earlobe, arm) with body parts served after the ductus (legs)

Risk of endocarditis and stroke!

● Endocarditis risk: blood goes from right to left without being filtered by the lungs, where bacteria are typically
filtered and removed by phagocytosis. Also have poor brain perfusion because of chronic hypoxemia,
metabolic acidosis, and increased blood viscosity from secondary polycythemia → tendency for bacterial
seeding at the grey white junction.

1. Transposition of the Great Arteries: 5% of kids with congenital heart disease; most common cyanotic lesion
a. CXR shows egg on a string (narrow mediastinum) with normal to increased pulmonary vascularity,
though it can be initially normal and take 1-2 weeks to look weird
b. Because the aorta is located in front of the pulmonary artery, the S2 aortic component is better heard
than than the soft pulmonic S2 component → hear a single S2
c. Initial management: create an atrial septum with cardiac catheterization! Immediate palliative
effect. Then definitive surgery

2. Pulmonary valve stenosis

a. Cyanosis and exercise intolerance are proportional to the degree of stenosis.
b. Pulmonic region systolic murmur that radiates to the left infraclavicular area or to the back, plus
systolic click. If severe, causes right heart enlargement.
c. Tx: Valvuloplasty through cardiac catheterization

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 d. Associated with Noonan Syndrome - formerly called the male Turner syndrome, it happens in both
sexes. Short, downslanting eyes, ptosis, low set and malformed ears, webbed neck, shield chest,
pulmonic stenosis and crypt orchidism

3. Tetralogy of Fallot
a. Pulmonary stenosis, large VSD, overriding aorta, right ventricular hypertrophy
b. Boot shaped heart with decreased pulmonary vascularity
c. Tetralogy spells = hypercyanotic spells, can be random or brought on with activity - can bring on
infudibular spasms that worsen RV outflow obstruction. Kids will squat to increase systemic resistance
→ increase pulmonary bloodflow
d. Associated with Thrombocytopenia and Absent Radius Syndrome (can also get ASD)
e. Treat with knee-chest position to increase systemic vascular resistance (encourages blood to move
into the stenotic pulmonary artery), inhaled oxygen to stimulate pulmonary vasodilation and systemic
vasoconstriction, morphine to relax the patient, and IVF to improve RV filing and pulmonary flow.

4. Tricuspid Atresia
a. No outlet between RA and RV → blood goes from RA to the left heart through PFO or atrial septal
defect, or might have VSD.
b. Have decreased pulmonary vascularity
c. Ebstein anomaly - the septal part of the tricuspid valve is displaced downward into the right ventricle,
causing “atrialization” of the RV - get a big RA and small RV. Overall heart size can be normal or
massive

5. Total anomalous venous return

a. “Snowman” appearance on CXR - supracardiac shadow caused by anomalous pulmonary veins, with
increased pulmonary vascularity

6. Hypoplastic left heart

a. Cardiomegaly and increased pulmonary vascularity

Case 26: Juvenile Idiopathic Arthritis

JIA is the most common rheumatologic disorder in kids. Onset prior to age 16, symptoms last 6+ weeks. 50% have
symptoms into adulthood

1. Systemic onset disease

a. Daily high spiking fevers for 2+ weeks, rash and arthralgias that wax and wane w/ the fever,
lymphadenopathy, organomegaly. Can also get pericarditis (friction rub, pain with inspiration/coughing,
better when leaning forward, low voltage QRS and ST elevation), hepatitis, pleural effusion, and
encephalopathy.
b. RF and ANA are usually negative
2. Polyarticular disease
a. 5+ joints involved, often central - cervical spine, TMJ, hips and shoulders are most common
b. RF+ or RF-. If +, disease tends to resemble adult RA
3. Oligoarticular JIA - most common!
a. < 5 joints - most often the knee, then the ankle.
b. Often ANA+
c. Must do regular ophthamologic screenings - 25% get anterior uveitis (iris and ciliary body
inflammation). Eye disease doesn’t parallel the arthritis activity.

Diagnosis

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 ● Depends on the kind of JIA, but all are supported by elevated WBC (inflammation), elevated platelets
(inflammation), and anemia (chronic disease). Elevated ESR.

Treatment: NSAIDs, steroids, methotrexate (DHF reductase inhibitor)

Differential for joint pain

● Septic arthritis - larger joint effusion than with transient synovitis, with warmth and local tenderness
○ ESR (> 40) and CRP (> 3) are also higher than with transient synovitis, when ESR might be 20-40 and
CRP is < 3
● Gonococcal arthritis (sexually active)
● Parvovirus B19: Causes Fifth Disease in kids
○ Runny nose + low grade fever → → → 1 week of arthritis involving hands, wrists, knees, ankles.
Flushed cheeks → slightly itchy red macular/reticular rash all over the torso and proximal extremities.
○ Targets RBC precursors - healthy patients will have mild anemia w/out reticulocytes!
■ Patients with hemolytic disease: develop a transient aplastic crisis. Poorly functioning marrow
in a patient with RBC lifespan of 30 days → profound anemia
■ Patients with immune deficiency - can be chronic infection and lead to life threatening chronic
anemia
■ Pregnant patients: can cause severe anemia in fetus → hydrops fetalis and death
● Toxic/transient synovitis:
○ Acute joint pain (often hip) following illness. No fever, normal range of motion, WBC, and ESR. Might
see joint effusion on ultrasound.
○ Can diagnose based on exam (can bear weight, look okay, no fever) and labs (no increased WBCs,
only mildly increased ESR or CRP). But should do xray of the hip to rule out legg-calve-perthes
disease (idiopathic avascular necrosis of the hip)
○ Treat with rest and NSAIDs
● Reactive arthritis: Can’t see (conjunctivitis), can’t pee (urethritis), can’t climb a tree (arthritis).
○ Follows GI infections (shigella, yersinia, salmonella, campylobacter), or chlamydia infections
● Avascular necrosis: Restricted movement with limited internal rotation and abduction of the hip, but no local
warmth or tenderness. Common with sickle cell.
○ Legg calve perthes disease: Idiopathic osteonecrosis of the femoral head. Usually in boys 4-10
years old with insidious onset hip pain and antalgic gait. Might have limited internal rotation and
abduction of the lip

Rheumatic fever: Jones criteria = migratory polyarthritis, carditis,subq nodules, erythema marginatum, and
syndenham’s chorea. Watch out for untreated sore throats! RF is highly unlikely if the infection was treated.
● 2 major criteria or 1 major and 2 minor, or either syndenham’s chorea or carditis (think jOneS).
● Manage with rest and NSAIDs.
● Erythema marginatum: faint, erythematous rash on trunk and limbs, has sharp borders like puzzle pieces
● The arthritis can migrate - usually won’t do that in JIA. Also, JIA can’t be diagnosed until the arthritis has been
there for > 6 weeks

Can mix up serum sickness-like reaction with rheumatic fever: hypersensitivity reaction 1-2 weeks after certain
drugs (penicillin, amoxicillin, bacterm, cefaclor). Get fever, hives, lymphadenopathy, and arthralgias. Should resolve
with withdrawal of the medication and does not represent a true drug allergy.

Case 27: Macrocytic (Megaloblastic) Anemia Secondary to B12 deficiency

Macrocytic anemia: In addition to B12 and folate deficiency, also associated with hypothyroidism and trisomy 21. If
these are normal, consider bone marrow pathology (leukemia, myelodysplasia).

B12 is in meat, fish, eggs.

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 ● B12 and folate deficiency will also cause a smooth, red, tender tongue.
● Can get malabsorption when terminal ileum is absent or inflamed.
● Juvenile pernicious anemia: Can’t secrete intrinsic factor. Onset in first few years when transplacental B12 is
exhausted. Sx = worsening irritability, loss of appetite, decreased activity. Risk of permanent neuro damage!
Give IM B12.
● Fish tapeworm diphyllobothrium latum - uses B12 for growth and making eggs, also inactivates the B12-IF
complex → ileum can’t absorb B12. Treat with praziquantel.
● Goat’s milk is low in B12, folate, and iron. Risk of brucellosis if not pasteurized

Fanconi anemia also causes progressive pancytopenia and macrocytosis- via chromosomal breaks.
● Symptoms are short stature, microcephaly, abnormally bent thumbs or absent thumbs,
hypogonadism,horseshoekidney, hypo/hyperpigmented skin areas, cafe au lait spots, large freckles,
strabisumus, low set ears, and middle ear problems.
● Average age at diagnosis is 8 years

Microcytic anemia:
● Thalassemias: Can have teardrop cells and target cells
○ Alpha thalassemia: Will have normal Hgb electrophoresis!!
○ Beta thalassemia: Will have increased levels of HgbA2 (A2, delta2)
■ Beta thalassemia minor/trait: Will have increased levels of hemoglobin A2 (2 alpha chains
and 2 delta chains). Have hypochoromic microcytic anemia with some target cells, fewer than
with HgbC. Usually no problems.
■ Beta thalassemia major (B0B0): Presents at 6 months with progressive anemia to the point of
heart failure, hepatosplenomegaly, and weakness. Need blood transfusions every month to
avoid death. Will have some target cells, but fewer than HgbC
● Malabsorption:
○ Celiac disease: Watch out for dermatitis herpatiformis and an associate with Type 1 DM. Can screen
with IgA anti-tissue transglutaminase antibody (very sensitive). Upper GI endoscopy with small bowel
biopsy confirms the diagnosis

Normocytic anemia
● Hemoglobin C: Autosomal receissive mutation in B chain of Hgb (glutamate → lysine). In heterozygous state,
no anemia, but will have target cells and Hgb C crystals (hexagonal and eosinophilic). Homozygous state
causes moderately severe hemolytic anemia, reticulocytosis, and splenomegaly with lots of target cells.
● Diamond Blackfan syndrome (DBS) is also called congenital hypoplastic anemia (not pancytopenia)
associated with congenital anomalies like webbed neck, cleft lip, shield chest, and triphalangeal thumbs

Case 28: Lead Toxicity

Blood Lead Level screening

● Do BLL screening in at-risk kids rather than universal screening.
● Blood lead level doesn’t reflect total body lead because a lot of lead is stored in other tissues like bone → BLL
can rebound after chelation therapy as lead leaves bone! Only repeat chelation if BLL is > 45, otherwise just
reassure and repeat testing in 3 months.

Signs of Lead Toxicity: Seizures, neuro changes, abdominal complaints. E.g., anorexia, hyperirritable, altered sleep,
decreased play, regression - especially speech, vomiting, ataxia, altered consciousness, seizures.
Treatment
● There is no safe lead level - even low levels have negative effects. But generally only chelate > 45 ug/dL, but if
symptomatic, admit to the hospital and give chelation therapy
○ Options: calcium sodium ethelyeme diaminetetraacetic acid (CaEDTA), meso-2,3,-
dimercaptosuccinic acid (DMSA, succimer), 2,3-dimercaptoproanol

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 ● < 45 → follow up BLL, education. If 20-45, neuro monitoring, abdominal xray, and environmental investigation.
Also do these things if BLL increases or stays above 15 for 3 months.
● > 45 → chelation therapy, neuro and abdominal studies
● > 70 → hospitalize plus all the previous interventions

Other exposures:
1. Mercury → neuro symptoms = ataxia, tremors, dysarthria, memory loss, altered sensorium (vision, hearing,
smell, taste), dementia and death.
a. In utero exposure → low birth weight, microcephaly, seizures
2. Arsenic → acute exposure causes severe GI symptoms, chronic causes skin lesions and
neuropathy/encephalopathy
3. Alcohol → hypoglycemia
4. MDMA/Ecstacy → stimulant effects = HTN, dilated pupils, hyperthermia

Case 29: Acute Post-Strep Glomerulonephritis

Post Strep glomerulonephritis: Follows strep pharyngitis (1-2 weeks) or impetigo (3-6 weeks) in 10-15% of
nephrogenic infections. Common 5-15 yrs. Usually completely resolves in a few weeks.
● Periorbital edema, mild HTN, RBCs and protein in urine. Decreased UOP causes circulatory congestion from
volume overload.
● Labs: low C3, normal C4, anti-streptolysin O, anti-DNase B (most reliable) - if both C3 and C4 are low,
consider something else!
● Note: rheumatic fever only follows pharyngitis, not impetigo!

Treatment:
● Mainly supportive. Can use calcium channel blockers to reduce HTN. Steroids aren’t helpful!
● Antibiotics reduce RF risk, but not PSG risk!
●

Differential
● IgA/Berger nephropathy: recurrent painless hematuria, usually preceded by URI. Can develop chronic renal
disease over decades. Have IgA in the mesangium
● H-S purpura: Common cause of nephritis, peaks 4-5 yrs. Have IgA in the mesangium.
● Lupus nephritis: consider if hematuria and C3 don’t resolve in 6-12 weeks. Facial rash, photosensitivity, oral
ulcers, hepatomegaly, arthritis, nephritis. Positive ANA, low C3 and C4
● Benign familial hematuria: autosomal dominant condition that causes intermittent or persistent hematuria
without progression to renal failure. Thin basement membrane
● Hemolytic Uremic Syndrome: endothelial cell swelling with fibrin deposition
● Rapidly progressive glomerulonephritis: crescentic glomeruli
● Goodpasture’s Syndrome: nephritis + pulmonary hemorrhage
● Alport syndrome: genetic defect in collagen synthesis → abnormal BM formation. Hematuria, proteinuria,
renal failure by 20’s or 30’s. Also deafness and maybe eye problems

If protein in urine is an isolated sign (e.g., no symptoms, no WBCs or hematuria), then recheck twice at a later date
before doing additional workup. Can be benign.
● Transient proteinuria is very common in kids - caused by fever, exercise, seizures, stress, or volume
depletion.
● Orthostatic proteinuria is common in boys - protein in urine when upright, but goes away when recumbent.

Case 30: Precocious Puberty

Tanner Staging

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 1. Breasts: 1 = none, 2 = breast bud, 3 = + breast and areola growth, 4 = nipple + areola mound, 5 = adult
2. Hair: 1 = none, 2 = straight and fine, 3 = coarsening and thickening, 4 = looks like adult but limited area, 5 =
adult
3. Penis/testes, 1 = nothing, 2 = testes increase and scrotum reddens, 3 = penis lengthens, 4 = penis widens, 5 =
adult

Delayed puberty = no secondary sex characteristics by 13 yrs in girls or by 14 yrs in boys

Precocious puberty = onset of secondary sex characteristics before 6-8 yrs in girls and before 9 yrs in boys. Involves
onset of all secondary sexual characteristics (body odor, pubic hair, etc) not just a few - if only a few, consider
psuedopuberty from exogenous hormones or tumor.
● Can also have premature adrenarche (early hair) or premature thelarce (early breasts only, estrogen related
- ovarian cysts and transient gonadotropin secretion)
● Diagnosis: CT, MRI, pelvic ultrasound, can do GnRH stimulation test.

To determine if precocious puberty is central or peripheral, first ask if bone age is advanced?
● Yes → measure basal LH. If high → central, if low, do GnRH test → high LH means central, low means
periphera.
○ If central, must follow up with an MRI to rule out hypothalamic or pituitary tumors, then treat with
GnRH agonist to prevent premature growth plate fusion
● No → peripheral.

1. True precocious puberty = CNS problem involving the hypothalamic-pituitary-gonadal pathway. Must rule it
out in young patients.
a. Diagnosis:
i. Bone age is advanced beyond chronologic age! Then test basal leutenizing hormone (in boys)
- if high, it’s central gonadotropin-dependent precocious puberty. If low, give GnRH stimulation
test - high levels of LH mean that it is central. Low levels of LH mean that it is peripheral, non-
central problem.
b. Treatment:
i. GnRH agonists - desensitive the pituitary to GnRH (after ruling out tumor with MRI)
ii. CNS lesions causing puberty without neuro symptoms are rarely malignant and seldom
require neurosurgery.
c. McCune Albright disease = bone pathology, cafe au lait spots, EARLY puberty (even in infants)

2. Precocious psuedopuberty = non-central problem. Could be exogenous hormones (OCP) or tumor of the
ovary, testes, or adrenal gland.
a. With tumors and exogenous estrogen, they suppress the pituitary gland, so THEY CAUSE JUST A
FEW ISOLATED SIGNS OF PUBERTY, NOT ALL OF THEM - e.g., premature telarche and/or
vaginal bleeding, but no pubic hair, body odor, or acne
b. Diagnosis: Will have age-appropriate bone age, or older bone age but low LH with GnRH stimulation.
c. Congenital adrenal hyperplasia: disorder of steroid synthesis leads to deficiency of cortisol and
overproduction of adrogen intermediaries like 17 alpha hydroxyprogesterone

Isolated premature adrenarche: Caused by increased adrenal adrogens. Have body odor, oily hair and skin, acne,
pubic hair, axillary hair.
● Labs may show slightly elevated DHEA-S, but testosterone levels are usually normal.
● Risk factor for PCOS, type II DM, and metabolic syndrome - especially if obese
● Can give reassurance if bone age is normal, same think with isolated premature thelarche

Obesity can cause:

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 ● Central activation of puberty: adipose cells stimulate leptin secretion, which activates the hypothalamus-
pituitary-gonadal axis, which increases LH and FSH
● Peripheral activation of thelarche: insulin increases ovarian estrogen production
● Peripheral activation of adrenarche: insulin increases adrenal androgen production

Case 31: Ambiguous Genetalia

Hermaphroditism: discrepancy between gonads and external genetalia. True hermaphrodites have both kinds of
gonads

Psuedohemaphroditism in girls: Most often congenital adrenal hyperplasia, but can also be caused by maternal
exposure to androgens

Psuedohemaphroditism in boys: testosterone dyssynthesis, 5alpha reductase/DHT deficiency, androgen

insensitivity (= testicular feminization)

Congenital adrenal hyperplasia: Autosomal recessive disorder of adrenal steroid synthesis due to enzyme
deficiency (usually 21 hydroxylase)
● 21 hydroxylase takes (1) progesterone downward toward aldosterone and (2) 17 hydroxy progesterone down
toward cortisol - if missing, can’t make aldosterone or cortisol. Instead shunt precursors rightward via 17 alpha
hydroxylase - towards androgen precursors!
● Cortisol deficiency → can end up with increased pigmentation
● Aldosterone deficiency → salt losing! End up with dehydration, can become very ill. In boys, won’t have the
abnormal virilization cue for diagnosis - symptoms can mimic pyloric stenosis, intestinal obstruction, heart
disease, cow’s milk intolerance, and other causes of FTT.

Case 32: Primary Syphillis

1. Primary syphilis presents with chancre (painless ulcer with indurated base) 2-3 weeks after exposure to
treponema pallidum.
2. Secondary syphillis: 2-3 months later, get malaise, fever, rash (often hands and soles)
3. Tertiary syphilis: 10 years later in 15% of untreated case - gummas, aortic aneurysms, neurosyphilis with
seizures, meningitis, or MSK deficits

Diagnosis of syphillis
● Rapid screening assays: RPR and VDRL can have false positives.
● Treponemal assays: FTA-ABS and TP-PA are organism specific
● Can use dark field microscopy.
● If neuro symptoms → LP

Treatment of syphillis: Penicillin or tetracyclines (doxy) if allegic

Chancroid: painful ulcer with exudate caused by haemophilus ducreyi. May have tender inguinal lymphadenopathy

PID: Caused by chlamydia or gonorrhea

● Suspect chlamydia with dysuria, clear urethral discharge, and leukocyte esterase on urinalysis. Can diagnose
with urine test.
● Suspect gonoccal infection with pustular rash (signals disseminated infection)
● Can progress to Fitz Hugh Curtis Syndrome = ascending pelvic inflammation and inflammation of the liver
capsule

STDs generally
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 ● Lymphogranuloma venereum: caused by chlamydia trachomatis - can culture or do serum antibody tests.
Few small papules that bcome pustular, erode, and ulcerate over a few days. At the same time, get painful,
erythematous, small vesicles
○ Diagnosis: Can culture with chocolate agar or do serology testing
● Haemophilus ducreyi: causes chancroid. Painless papule on genitals that resolves, then unilateral draining
inguinal lymphadenitis - can be confused with lymphogranuloma venereum, but occurs after ulcer has healed,
rather than at the same time as with LV.
○ Diagnosis: PCR or antibody testing is best. Difficult to culture

Case 33: Pityriasis Rosea

Pityriasis rosea: Benign childhood skin eruption of slightly itchy oval or round lesions, 1 cm or less in diameter, with
raised edges and pinkish in color, often scale on the surface. Have a herald patch 5-10 days before progression, which
often follows the Christmas tree pattern, developing along cleavage patterns
● Must test for secondary syphilis if sexually active or if lesions on the palms and soles!

Guttate psoriasis: Variant of psoriasis in kids - sudden eruption of psoriasis on the trunk, face, and proximal limbs.
Often small oval or round lesions that follow a strep infection. If give abx for strep, rash often improves.

Nummular dermatitis: Extremely itchy coin sized lesions on extremities, butt, shoulders. Lesions appearance varies
widely - can be boggy, vesicular, weepy, or dry and scaly. Treated like atopic dermatitis with topical corticosteroids. If
chronic, can cause lichenification.

Pityriasis lichenoides chronica: benign condition in kids. Many 3-5 mm reddish brown papules covered with gray
scale on the trunk and extremities. Can become vesicular, hemorrhagic, crusted, or superinfected. In 2-6 weeks, turn
flat and hyper or hypopigmented. Treat with steroids, sometimes erythromycin.

Pityriasis alba: Hypopigmented macules with fine scale, not itchy. Thought to be caused by dry skin. Borders aren’t
sharply demarcated → can distinguish from vitiligo.

Tinea corporis = Ringworm! Superficial fungal infection - starts as an erythematous papule that expands to form a
circular, scaly, erythematous lesion with raised borders and central clearing. Treat with antifungals (terbinafine). Won’t
have as many lesions as pityriasis rosea.

Lichen simplex chronicus: Chronic localized dermatitis with round or oval lichenified patches

Erythema Toxicum: Common in newborns. Eosinophils in the skin. No other symptoms.

Case 34: Bacterial Meningitis

Remember ABCs! They always come before diagnostic studies!

Symptoms: fever, headache, stiff neck (note that nuchal rigidity is not seen until 12-18 months)
● Brudsinski sign: patient is lying down, passively flex the neck → involuntary knee and hip flexion
● Kernig sign: patient lies down, passively flex the knees and hips to 90 degrees, then straighten Knees →
pain
● Diagnose with LP - contraindicated if skin infection at the LP site, increased intracranial pressure without an
open fontanelle (suspect if vomiting!), severe thrombocytopenia or other bleeding disorder, or if the patient is
not clinically stable. Okay to do if fontanelle is bulging! If CI’ed, do a CT scan
○ Give empiric IV antibiotics first (ceftriaxone and vanco) and then do LP - bugs other than
neisseria meningitis can usually be identified up to several hours after abx.
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 ○ Do CT scan first if coma, focal neuro findings, a history of neurosurgery, or signs of increased
intracranial pressure with closed fontanelle,
○ Can do bacterial antigen screens even after abx - will persist for several days even when culture is
negative.
● Most common long term problem is hearing loss - in up to 30% of patients with pneumococcus. Also ⅓ of
meningitis patients will have seizure.

Neonates: most often E coli and GBS, usually hematogenous spread. Nonspecific symptoms - thermal instability (often
hypothermia), poor feeding, vomiting, seizures, irritable, apnea. May have bulging fontanelle, increased or decreased
tone.
● Ampicillin + 3rd generation cephalosporin or aminoglycoside: will cover GBS, listeria, and e coli. 3rd gen
cephalosporin is because many GBS are penicillin resistant. Sometimes even have to go to vancomycin to
cover GBS!

Older kids:
● Bacterial meningits is most often strep pneumo or neisseria meningitis (15-30% of people are colonized! watch
for purpuric or petechial rash!). Vaccination has basically eliminated H flu type B.

Viral meningitis: 90% are caused by nonpolioenteroviruses like echovirus and coxsackie virus

Intracranial abscess: suspect if history of sinusitis + prolonged headache with worsening vomiting and nuchal rigidity
→ CT scan prior to LP (might result in herniation).

Retropharyngeal abscess: normal mental status, difficulty swallowing, fullness in the oropharynx → get lateral neck
xrays!
● Most often polymicrobial: strep pyogenes, staph aureus, and anaerobes

Juvenile angiofibroma: nasal obstruction, visible mass, frequent nosebleeds. Found in the nose or upper throat
(nasopharynx), most often in adolescent boys. Benign mass but capable of eroding and locally invading, and
potentially dangerous because they bleed easily.

Case 35: Bacterial Enteritis

Fever, abdominal pain, diarrhea (watery → bloody), and neuro findings (seizure, confusion, headache,
drowsiness): most likely salmonella or shigella. Especially shigella - shigellosis
● Other shigella and salmonella similarities:
○ Gram negative rods, non-lactose fermenting facultative anaerobes, motile, infection more common in
warm months.
○ Test with stool culture (but often negative), usually have positive fecal leukocytes (just shows
inflammation). Blood cultures often positive. Salmonella - WBC usually mildly high, shigella - normal
WBC but with a remarkable left shift.
○ Treat both with fluid and electrolytes. Shigella gets abx (3rd gen cephalosporin). Avoid antimotility
agents!
● Differential: intussusception

Salmonella
● Exposures: poultry, raw eggs (potato salad). Also reptiles. Person to person transmission is rare - have to
spread lots of bugs
● Can also have vomiting
● Salmonella gastroenteritis generally isn’t treated with antibiotics! Can increase the risk of HUS!
● Nontyphoid: gastroenteritis, meningitis, osteomyelitis, bacteremia
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 ● Typhoid/enteric fever: caused mainly by salmonella typhi

Shigella
● Transmission is usually person to person, but can be through food and water. Only need a few bugs for
disease
● Generally treated to shorten the illness and decrease bug excretion.
● Rare complications: rectal prolapse, cholestatic hepatitis, arthritis, conjunctivitis, cystitis. Rarely, dangerous
and fast sepsis like presentation (Ekiri syndrome) → death

Other bugs:
1. E coli, campylobacter, yersinia enterocolitica: can caues dysentery with fever, cramps, and bloody
diarrhea. Yersinia can cause an acute abdomen picture. EHEC usually doesn’t cause fever
2. Vibrio cholera: vomiting and profuse watery diarrhea
3. C diff: 50% of infants are colonized with it, but treat only if it’s causing symptoms - rare except after abx. Don’t
have receptors for the toxin until 2 years old!
4. Giardia: diarrhea, weakness, flatulence, abdominal cramps, foul smelling greasy stools. Treat with tinidazole
or metronidazole
5. Cyclospora cayetanesis: Prolonged nonbloody diarrhea (e.g. 11 days) after incubation period of 7 days.
Fatigue, distended abdoment, cramps, fever, weight loss. Transmitted from contaminated food (e.g.,
raspberries). Treat with bactrim.

Hemolytic Uremic Syndrome:

● Follows 8% of EHEC infections, less common with shigella, salmonella, and yersinia. Usually 1-2 weeks after
diarrhea in kids < 4 years old.
● Anemia, thrombocytopenia, nephropathy, petechiae, pitting edema, HTN.
● Treatment is supportive, sometimes dialysis. The thrombocytopenia is consumptive - giving platelets isn’t
helpful unless actively bleeding

Other causes of bloody diarrhea

● Meckel’s
● Intussusception
● Milk or soy protein induced proctocolitis: Not IgE mediated. Usually resolves by 1 year. Causes severe
reflux or vomiting and/or painless bloody stools. Avoid dairy AND soy because of cross reactivity - might need
a hydrolyzed formula.
○ This is different from lactose intolerance, which is from lack of the brush border enzyme

Case 36: Appendicitis

Psoas sign: irritation of the psoas muscle caused by active right thigh flexion or passive right hip extension
Obturator sign: Irritation of the obturator muscle caused by passive internal rotation of the right thigh
Remember that the pain often starts in the umbilical region and then moves to RLQ.

Diagnosis: Ultrasound is especially useful in females. But CT is the gold standard when patients are neurologically
impaired, immune suppressed, obese, or if suspect perforation
● Differential:
○ Lower lobe pneumonias can cause abdominal pain! Watch out for pneumo symptoms.
○ Strep pharyngitis: throat pain, fever, abdominal pain, emesis

Treatment: Remove the appendix if it hasn’t perforated. If it has perforated, then give IV abx, drain the abscess
percutaneously, and then do an appendectomy at a later time.
● If don’t get better after surgery - get a CT scan! Risk of abscess.

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 Case 37: Acute EBV infection

EBV infection: DsDNA herpes virus that infects oropharynx, salivary tissues, and B cells.
● 30-50 day incubation. Shed for 6 months after infection and intermittently for life.
● Symptoms: malaise, headache, nausea, fever, exudative sore throat, splenomegaly, diffuse cervical
lymphadenopathy. Can have periorbital edema. Less often rash and hepatomegaly.
● Complications
○ Bell palsy, seizures, aseptic meningitis or encephalitis, splenomegaly with life-threatening
rupture, Guillain Barre (do spirometry to measure lung function - especially FVC), optic neuritis,
transverse myelitis, parotitis, orchitis, pancreatitis, airway compromise from enlarged tonsils
○ In HIV → oral hairy leukoplakia in adults and lymphoid interstitial pneumonitis in kids, several cancers
- hodgkin disease, nasopharyngeal carcinoma, lymphoproliferative disorders
● Diagnosis:
○ Lymphocytic leukocytosis with 20-40% atypicals. Mild thrombocytopenia, rarely causes bleeding
or purpura. Half get mildly elevated LFTs, but jaundice is rare.
○ Monospot test if > 5 yrs, otherwise do assays for EBV antibodies to viral capsid antigen, nuclear
EBV antigen, and early antigen. Can also do PCR.
● Treatment: Just rest! Acyclovir slows viral replication but isn’t useful - doesn’t affect outcomes. Only give
steroids if concerned about airway
○ Ampicillin or amoxicillin will cause rash - poorly understood but basically diagnostic of EBV! Not
considered a true drug allergy, can have these abx in the future

Differential dx:
1. Group A strep pharyngitis: typically no prodrome like EBV, no splenomegaly
2. Acute CMV infection: splenomegaly, fever, atypical lymphocytosis, but less likely to have exudative sore
throat and cervical lymphadenopathy

Case 38: Pinworms

Enterobius vermicularis = pinworms: Presents with anal itching, especially at night. Can migrate to the perineum
and cause vaginal itching and discharge.
● Females lay eggs around the anus → itching → eggs on fingers. If ingest eggs → cycle starts again.
● Diagnose with cellophane tape test (early in the AM) and microscopic exam - see eggs : (
● Treatment: Mebendazole, pyrantel pamoate, or albendazole for the whole family

Differential diagnosis
1. Strep cellulitis: Might have blood streaked stools, will have sharply demarcated erythema

Other nematode infections treated with mebendazole, pyrantel pamoate, or albendazole:

1. Ascaris lumbricoides: Causes hemoptysis, pulmonary infiltrates, abdominal pain, distention, sometimes
intestinal obstruction.
a. Transmitted via egg ingestion, usually soil contaminated with human poo.
b. Diagnose with stool.
2. Hookworms: Ancylostoma duodenale, necator americanus
a. Larvae in soil penetrate skin → itching and rash at site of skin entry, epigastric pain and diarrhea,
anemia from blood loss, respiratory symptoms
b. Diagnose with stool exam.
3. Visceral and ocular larva migrans: toxocara canis, toxocara cati, toxocara leonini, baylisascaris procyonis
a. Toxocara canis is a common parasite of dogs
i. kids eat dirt and ingest the ova, the larvae penetrate the intestine and migrate to visceral sites
like the brain, lungs, and liver, but don’t return to the intestine → stool does not contain ova or
parasites.

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 ii.Diagnose with ELISA for toxocara. If minimal symptoms, no treatment, if more significant
symptoms, albendazole.
b. Fever, cough, abdominal pain (in some), hepatomegaly, rhonchi, skin lesions
c. Dx with clinical presentation and serology, will have leukocytosis and eosinophilia
d. Treatment: visceral is self-limited, ocular is treated with mebendazole, albendazole, or
diethylcarbamazine
4. Whip worms: Trichuris trichiura
a. Often asymptomatic - but can cause proctitis, bloody diarrhea, abdominal pain, and rectal prolapse
b. Dx with lemon shaped eggs in stool.
c. Treat w/ mebendazole or albendazole

Other nematodes
1. Strongyloides stercoralis: larvae penetrate skin → lungs and intestines. Can also move within the body.
a. Can be asymptomatic or cause epigastric pain, emesis, diarrhea, malabsorption, weight loss
i. Can cause hyperinfection in immune compromised hosts! Can get massive invasion of organs
and sepsis from gram negative intestinal bugs
b. Diagnose with stool exam
c. Treat with ivermectin or thiabendazole

Tapeworms
● Treat with praziquantel, niclosamide, paromomycin

Case 39: Subdural Hematoma

Concussion: Altered mental status after blunt head trauma, can cause retrograde and anterograde memory loss. 3
grades of concussion:
● Grade 1: No LOC, return to baseline in < 15 mins - can go right back to the game. If it happens again, sit out
for 1 week.
● Grade 2: No LOC. If return to baseline in 15 min to 1 hour → sit out the rest of the week. If > 1 hour, go to
hospital.
● Grade 3: LOC → go to hospital

Contraindications to contact sports: 1 eye, 1 kidney, hemophilia, unexplained syncope

Subdural hematoma: More common in babies < 1 yr. Seizures are common - 60-90% of kids.
● Can be acute, subacute, or chronic. Chronic is more common in older kids than babies. Present with
symptoms of increased ICP, poor weight gain, anemia, etc.
● Long term complications: headaches, fatigue, nausea, and sleep disturbance. More long term complications
than epidural hematoma because more brain parenchyma is involved.

Epidural hemorrhage: More common in older kids.

● In adults, usually the middle meningeal artery. But in kids, 50% are venous - disrupt dural sinus or middle
meningeal veins
● Typical adult course is LOC, period of lucidity, then redevelopment of altered mental status and symptoms of
increased ICP. Young kids typically don’t have this pattern!
● Acute mortality is higher than acute subdural mortality, but generally few long term complications.
● If deteriorating neuro status or increased ICP → emergent craniotomy. Steriods have no role in acute trauma!

MRI CAN HELP TO DETERMINE THE AGE OF THE HEMATOMA - USEFUL IF SUSPECT CHILD ABUSE

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Intraventricular Hemorrhage: Risk in preemies (< 30 weeks) and underweight babies (< 1500 g, 3.3 lbs) due to
capillary fragility of the subependymal germinal matrix and immature autoregulation of cerebral blood flow. Often fatal
or leads to CP.
● Screen for IVH with serial head ultrasounds - must screen because up to 50% are asymptomatic.
● Severe hemorrhage presents with lethargy, hypotonia, high pitched cry, rapidly increasing head circumference
and bulging fontanelles
● Can involve communicating hydrocephalus - blood irritates the arachnoid villi and impairs absorption of CSF
● Reduce risk by preventing preterm labor and giving matenal corticosteroids

Case 40: Dysfunctional Uterine Bleeding

Dysfunctional uterine bleeding includes menorrhagia or metrorrhagia.

● Must consider other diagnoses first - 9% will have an organic cause like ectopic pregnancy, threatened
abortion, infections (cervicitis, HPV, trichomonas), trauma, OCPs, meds, hypothyroidism, foreign body,
malignancy

Treatment depends on hemoglobin level:

● 12+: Mild bleeding - just give iron and follow up
● 9-12: Moderate bleeding - iron and OCP
● < 9: Severe bleeding - may need a transfusion. Give IV estrogen (premarin) and high dose OCP until
bleeding stops. If it doesn’t, do an ultrasound and D&C

Ectopic pregnancy:
● Risk factors include PID, IUD, previous ectopic, previous tubal surgery, increasing age, fertility drugs, smoking.
● Can treat unruptured ectopic with methotrexate or manage expectantly?

PID
● Caused by gonorrhea or chlamydia. Suspect if abdominal pain in female, other causes ruled out, and cervical
motion tenderness, uterine tenderness, or adnexal tenderness. Can cause tuboovarian abscess and pelvic
adhesions
● Ultrasound might show thickened and fluid filled fallopian tubes with free pelvic fluid
● Treat with ceftriaxone (gonorrhea) + doxycycline (chlamydia)

Case 41: Simple Febrile Seizure

Typically 6 months to 6 years, in 2-4% of kids. Usually grow out of them. Kids who have their first one < 1 year have a
50-60% chance of having more. Older kids have a 20-30% chance of recurrence.
● Risk increases with family history of febrile seizure (10-20%).

Get an LP if: Do CT before MRI if space occupying lesion is suspected (e.g., abscess) - don’t give abx before
unless patient can’t tolerate the LP without them
1. Neuro exam is abnormal after seizure
2. Seizure occurred several days into illness (maybe after fever had already come on)
3. Kid can’t provide adequate feedback about neck exam
4. Kid is younger than 1 yr → meningeal signs (Kernig and Brudzinski) aren’t reliable

Simple febrile seizure: Generalized without focal signs. Lasts less than 15 minutes, or if you have two - the whole
episode lasts less than 30 minutes. No further studies are needed - no EEG, no imaging, no LP.

Complex febrile seizure: Lasts > 15 minutes, or if multiple - lasts > 30 minutes, focal signs.
● Do EEG, consider imaging (especially if signs of increased ICP)
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 ● In babies < 1 year, get an LP

Prolonged seizures: If seizure lasts longer than 5 minutes, treat with lorazepam or diazepam. If don’t respond, treat
with fosphenytoin.

Absence seizure = Petiti Mal: brief episodes of impaired conciousness (lasts a few seconds, rarely more than 30
seconds). May have simple automatisms, but no complex autonomisms, no tonic-clonic movements, and no post ictal
state. Hyperventilation during EEG shows 3 Hz spike and wave pattern on normal background
● If last a few minutes or have post ictal period, suspect something else, like complex partial seizures. Can
present with brief (few mins) episodes of impaired consciousness, failure to respond to stimuli during the
episodes, staring spells, and automatisms (lip smacking, swallowing, picking movements of the hand) and post
ictal confusion. EEG is normal or shows brief discharge. Hyperventilation won’t stimulate.

Case 42: Musculodystrophy

Duchenne’s MD: 1 in 3300 males, X- linked recessive frameshift or deletion mutation that deletes the dystrophin
protein → muscle breakdown. 30% are new mutations.
1. Classic signs are waddling gait and progressive proximal muscle weakness. Also psuedohypertrophy of calf
muscles - fat invasion and increase in muscle fiber size to compensate for proximal weakness. Wheelchair
bound by 10-13 years, but distal strength is okay, so still have fine motor. All will have some degree of
cardiomyopathy! Most die from respiratory failure.
2. Diagnosis: Screen with creatine kinase. Confirm with DNA analysis - diagnoses ⅔ of cases. If non-conclusive,
then do muscle biopsy. Electromyogram will just show non-specific myopathy.
a. 80% of female carriers have elevated CK
3. Treatment: Supportive, but can try prednisone. Do PT to avoid contractures, but not to strengthen - significant
exercise can make it worse! Monitor for cardiomyopathy, can give digoxin.

Becker dystrophy. X-linked point mutation in the dystrophin gene. Less severe - onset in adolescence or early
adulthood

Myotonic dystrophy: Autosomal dominant trinucleotide expansion in the dystrophin myotonin protein kinase gene.
2nd most common MD in the US!
● Myotonia, muscle wasting (especially distal), frontal balding, cataracts, testicular atrophy, arrhythmias
● In newborns, might see inverted v-shape upper lip, thin cheeks, wasting of temporalis muscles, narrow head,
high arched palate.
● Congenital muscular dystrophy: severe form of myotonic dystrophy can be seen in infants of mothers with
myotonic dystrophy - if require ventilation for > 30 days, poor outcome.

Case 43: Neonatal Herpes

Intrauterine infection → chorioretinitis and microcephaly

Delivery infection is more common - especially with primary infection (50% infection with vaginal delivery, vs. < 5%
if recurrent outbreak).
● Only 25% of mothers of babies with delivery-transmitted herpes had symptoms at the time of delivery.
● Prevention: Do a C-section if mother is symptomatic at the time of delivery. Don’t do surveillance cultures to
see if she has an active infection.
● Presents in one of three ways:
○ Skin, eye, mouth involvement (SEM): presents at 1-2 weeks, requires IV treatment to prevent
progression to other types. Best outcomes.
■ IF A NEONATE HAS A VESICULAR RASH, HOSPITALIZE, GET HSV CULTURES, AND
BEGIN ACYCLOVIR - DON’T RELY ON TZANCK SMEAR

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 ○ CNS disease/encephalitis: 2-3 weeks of life. Fever is unusual and only 60% have vesicles. Just
lethargic, irritable, maybe seizures. 50% of untreated will die, many have long term neuro issues.
○ Disseminated disease: Multiple signs and symptoms in 1-2 week old infant: fever, lethargy, irritable,
anorexia, vomiting, respiratory distress, apnea, jaundice, bulging fontanelle, seizure (focal or general),
decerebrate posturing, coma. ⅔ have vesicles. 30% die even with acyclovir, but 80% of survivors are
normal by 1 year - actually better long term outcomes than CNS disease.
● Diagnosis: Viral cultures from various body sites and PCR of CSF - antibody studies aren’t helpful early on.
Can do tzanck smear of lesions (look for multinucleate giant cells) and antigen detection of lesions for rapid
diagnosis.
● Treatment: IV acyclovir

HSV genital infection in older kids: Ask the parent to leave the room, then ask the kid in an open ended fashion if
anyone has ever inappropriately touched her
Case 44: Atopic Dermatitis

Eczema: General term for inflamed skin with papules and plaques, often with serous discharge and itching. Includes 3
kinds:

1. Contact dermatitis

2. Atopic dermatitis: A patch or plaque of erythematous skin with intense itching - most common eczematous
eruption in childhood. 20% of kids, especially if family history of asthma, hay fever, or eczema
a. Caused by abnormalities in epidermal barrier (→ dry skin, enables allergens and bacteria to
enter), immune function, environment exposures, and infection.
i. NOT USUALLY CAUSED BY ALLERGENS! OFTEN MISDIAGNOSED AS “ALLERGIC TO
EVERYTHING”
b. Affected areas are prone to infection - watch out for staph and HSV (vesicles)
c. Three phases:
i. Birth to 2 yrs: Classic picture is baby with red scaly cheeks in winter - half resolve by 1.5 yrs
ii. Childhood < 12 yrs: rash in flexural areas = places of repeated flexion and extension
iii. Adult: Flexural inflammation, often with hand dermatitis, inflammation around the eys, and
lichenification of the anogenital area.
d. Diagnosis: Basically exclude other explanations. IgE is often elevated.
e. Treatment: emollients to preserve/restore the skin barrier, eliminate inflammation (topical steroids) and
infection (mupirocin/bactroban for staph), reduce itching (oral antihistamine) to decrease scratching
i. Tacrolimus and pimecrolimus are nonsteroidal calcineurin inhibitors available in topical form
- do immune modulation
ii. Sedating antihistamines = benadryl and hydroxyzine, nonsedating = loratadine (Claritin) and
cetirizine (zyrtec)
iii. AVOID FLUORINATED CORTICOSTEROIDS ON FACE, GENITALS, ETC BECAUSE THEY
CAN THIN SKIN FURTHER AND CAUSE DEPIGMENTATION

3. Seborrheic dermatitis: self-limited scaly, erythematous, and/or crusty eruptions in areas with lots of
sebaceous glands
a. Treatment: shampoo with antifungal medication or low-to-medium potency corticosteroid

● Watch out for Wiskott-Aldrich Syndrome! X-linked with recurrent infections (capsular bugs),
thrombocytopenia (15-30k), and eczema. Have T cell dysfunction and small, dysfunctional platelets. Prone to
infection, lymphoma, and other malignancies.

Causes of unilateral swollen cervical lymph node in kids:

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 1. Staph aureus or strep pyogenes: acute onset, associated with cellulitis or suppuration, treat with drainage
and clindamycin.
a. Note: bactrim is good against MRSA but not good against group A strep
2. Anaerobes: older kids with dental problems, treat with clindamycin or ampicillin
3. Non-TB mycobacteria: preschool kids with no systemic symptoms, slow onset, not painful. Excise and
macrolide +/- rifampin
4. TB: systemic symptoms, exposure history, positive PPD. Treat for TB
5. Bartonella henselae: slower onset, tender but mild cellulitis, exposure to cats. Don’t need to treat!
6. Tularemia: acute unilateral cervical lymphadenopathy with fever, chills, headache, and malaise. Contact with
infected animals (rabbits, hamsters, blood sucking arthropods)

Impetigo
● Bullous: caused by staph aureus, will have rapidly enlarging bullae with yellow fluid and clear scale around
the rim of ruptured lesions. Treat with oral antibiotics (cephalexin, dicloxacillin, clindamycin)
● Nonbullous: staph aureus or group A strep. Painful, not itchy, honey crusted. Risk increases with skin trauma
(e.g., insect bites). Diagnosis is clinical. Treat with topical abx (mupirocin)

Case 45: Neuroblastoma

Neuroblastoma is a tumor of primitive neuroendocrine tissue. It’s the most common solid, extracranial tumor in kids -
50% of infant cancers!
● Usually arise in abdomen from the adrenal gland → nontender multiquadrant abdominal mass (crosses
midline). But can be intrathoracic or paraspinal.
○ Intrathoracic → respiratory distress, wheeze
○ Cervical ganglia → Horner syndrome
○ Paraspinal → compressive neuralgias, back pain, urine or stool retention
● Metastasis to skin (bluish), bones (anemia, pain, petechiae), liver, and lungs. Raccoon eyes and proptosis →
orbital involvement
● Can have paraneoplastic syndrome or opsoclonus myoclonus
● Diagnosis: elevated catecholamine metabolites in urine (homovanillic acid, vanillylmandelic acid) in 90%
● Treatment: surgery with chemo and radiation for advanced disease. Overall cure 90% - better prognosis in
infants and if no N-myc mutation

Pinealoma or Germinoma: Suspect in kids with Parinaud’s syndrome and Collier’s sign
● Parinaud’s: paralysis of vertical gaze, pupil disturbance from involvement of the superior colliculus and CN3
● Collier’s sign: eyelid retraction
● Can distinguish from a craniopharyngioma because no impairment of visual fields

Medulloblastoma: 90% arise from the cerebellar vermis, cause posterior vermis syndrome - unbalanced gait, trunk
dystaxia, horizontal nystagmus, and papilledema

Wilms Tumor: Presents with hematuria, HTN, and local abdominal mass that does not cross the midline
● Patients typically present less sick than neuroblastoma
● Denys Drash: Wilms tumor, gonadal dysgenesis, nephropathy
● Beckwith weidemann

Palpable abdominal mass in newborn is most often hydronephrotic or multicystic dysplastic kidney. Get an
ultrasound to diagnose!

Viral mediated mesenteric lymph node enlargement can cause nonspecific abdominal pain! Classic picture is
URI symptoms, neck lymphadenopathy, and diarrhea.

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Infantile fibrosarcoma: malignant congenital malformation that is easily mistaken for an infantile hemangioma -
suspect this if the “hemangioma” doesn’t resolve

Neurofibromatosis Type 1 = von Recklinghausen disease

● Autosomal dominant mutation in NF1 tumor suppressor gene on chromosome 17 that codes the protein
neurofibromin.
● Cafe au lait spots are the earliest sign - also macrocephaly, feeding problems, short stature, and learning
disabilities. Then axillary freckles, multiple neurofibromas (benign peripheral nerve sheath tumors), lisch
nodules (iris hamartomas)
● Risk of intracranial cancer, most often optic gliomas

Neurofibromatosis Type 2 = central neurofibromatosis

● Mutation in NF2 tumor suppressor gene on chromosome 22 that codes for protein merlin.
● Bilateral acoustic neuromas/vestibular schwannomas cause sensorineural hearing loss and are diagnostic.
Audiometry is the best initial screening test!

Tuberous sclerosis
● Neurocutaneous syndrome associated with intracranial tumors (cortical tubers, hamartomas, subependymal
giant cell astrocytomas, subependymal nodules).
● Have ash leaf spots (hypopigmented), facial angiofibromas, cardiac rhabdomyomas, renal angioleiomyomas,
MR, and seizures

Case 46: Retropharyngeal Abscess

Neck abscess in general

● Often GAS, staph, H flu, peptostreptococcus, bacteroides, and fusobacterium.
○ Viral infection can present similarly - includes EBV, CMV, adenovirus, rhinovirus. Oropharyngeal
exudate, neck mass from lymphadenitis
● Diagnosis:
○ CT can show whether the patient has only cellulitis and edema, or hypodensity and ring enhancement
→ abscess. Can also show extension into nearby structures. MRI is better when concerned about
neurovascular elements.
○ Less likely if tonsils are symmetric, no soft palate changes, and no nuchal rigidity
● Treat with IV penicillin, later generation cephalosporins, or carbapenems. Clindamycin or metronidazole is
added if anaerobes are suspected and you want broad coverage.

Retropharyngeal abscess: typically kids < 4 yrs. Sore throat, painful swallowing, fever, posterior pharyngeal wall
swelling.
● Can follow infections of ears, sinuses, and nasopharynx. Can spread to mediastinum!
● More likely if the patient passively refuses to move the neck secondary to pain
● Diagnosis: Lateral cervical neck x-ray → widening of the retropharyngeal space

Peritonsillar abscess: can happen at any age, most common in adolescent and YAs.

Epiglottitis - often H flu

● X ray shows thumb sign

Thyroglossal duct cyst: typically midline, move with tongue protrusion, often follow URI. Excise surgically after neck
CT to ascertain cyst and thyroid anatomy. Half become infected.

Other considerations
● Thyroiditis, sialadenitis, thyroid nodule, goiter, salivary gland tumor
47
 ● Tooth abscess: See swelling in the gum, painful to chew. Give broad spectrum abx (amoxicillin, clinda) to
cover for strep mutans or fusobacterium, see a dentist in 24 hours
● Strep throat: Fever, sore throat, enlarged tonsils with exudate, anterior cervical lymph nodes enlarged, but will
move neck. Younger kids may have abdominal pain and vomiting.
○ If viral symptoms (cough, rinorrhea, conjunctivitis, oral ulcers) → viral pharyngitis
○ If exudate, edema, palatal petechiae, no viral symptoms → do rapid strep test. If positive, treat for
strep. If negative, follow up with throat culture. If culture is negative, then it’s viral. If positive, treat for
strep.
○ Adults who meet all four Centor criteria can be treated without testing (fever, no cough, exudate,
anterior cervical lymphadenopathy) because lower likelihood of viral pharyngitis. If meet only 2 or 3,
should test.
○ Treatment: Penicillin or amoxicllin - reduces risk of rheumatic fever and transmission to others.
Macrolides if allergic.

Bacterial rhinosinusitis:
● Persistent symptoms > 10 days without improvement OR severe symptoms, fever, face pain, purulent
discharge > 3 days OR worsening symptoms > 5 days after initially improving viral URI
● Acute infection is most often caused by strep pneumo, nontypable H flu, and moraxella - treat with ampicillin
● Chronic infection is more likely staph aureus

Case 47: Esophageal Atresia

Esophageal atresia: 1 in 2500-3000 births. Most common is proximal esophageal pouch and distal esophagus
growing from trachea.
● Symptoms: Cough, choking, cyanosis, inability to pass orogastric tube. Often history of polyhydramnios. Kids
with H type pouch (just a connection between trachea and esophagus) can present later with recurrent
pneumonia or feeding trouble.
○ 30-50% have VATER association defects: vertebral anomaly, anal imporferation, tracheo-
esophageal fistula, radial and renal anomaly
○ May also have heart defects! Watch out for heart failure later in childhood.
● Diagnosis: chest and abdominal xray with orogastric tube in place → see it coiled in the blind pouch
● Treatment: pouch must be suctioned constantly pending surgical repair. May have persistent esophageal
dysmotility and chronic GERD.

Watch out for DiGeorge Syndrome: abnormal 3rd and 4th pharyngeal pouch formation
● Can include abnormalities of the great vessels, esophageal atresia, bifid uvula, congenital heart disease, short
philtrum, hypertelorism (increased distance between the eyes), antimongoloid slant palpebrae (outer corner
down), mandibular hypoplasia, and low set notched ears.
● May present in infancy with hypocalcemic seizures due to parathyroid hypoplasia. Compensatory parathyroid
hyperplasia means that hypocalcemia is rare later in life.

Case 48: Transient Tachypnea of the Newborn

Transient tachypnea of the newborn: Usually in term infants after c-section or normal vaginal birth. Slow absorption
of fetal lung fluid → respiratory distress soon after birth w/ tachypnea, mild retractions, nasal flaring. Can have grunting
and cyanosis.
● Diagnosis: CXR shows perihilar streaking and fluid in the fissures, but lungs are well aerated
● Treatment: Observe and offer O2 as needed. Usually resolves in 1-4 days. If more than mild distress, evaluate
for more serious issues.

Respiratory Distress Syndrome: Usually preemies. Have a deficiency of surfactant → respiratory distress.

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 ● CXR shows a reticulonodular “ground glass” pattern with air bronchograms and decreased aeration of the
lungs
● Treatment: Give supplemental O2 via continuous positive airway pressure, fluids, NG feeds (degree of
tachypnea usually means baby can’t eat). Can give exogenous surfactant.

Congenital diaphragmatic hernia: 1 in 5000 births. Right sided heart sounds and absent left sided breath sounds.
Do an abdominal exam to confirm.

Meconium aspiration syndrome: CXR shows hyperinflation with patchy infiltrates. Meconium can plug small airways
→ air trapping. Can lead to pneumothorax.
● Treatment: No treatment if HR > 100, strong respirations, and good tone. But if infant is depressed, do
endotracheal intubation with direct suction. Bag-and-mask ventilation or ET intubation without suction can
make it worse.

Pneumothorax: babies with meconium aspiration and respiratory distress are at risk, especially if high PEEP settings
are used

Congenital cystic adenomatoid malformation (CCAM) aka Congenital Pulmonary Airway Malformation: an
entire lobe of lung is replaced by nonfunctional cystic lung. Large lesions can compress the affected lung and shift the
midline away from the lesion.
● Treat with surgical excision of the affected lobe. Some risk of lung cancer.

Case 49: Malrotation

Work up of bilious emesis in general: first do abdominal xray to evaluate the need for surgery or other diagnostic
studies. Then follow with a contrast enema to see exactly what is going on.
● Contrast enema is diagnostic and potentially therapeutic for meconium ileus.

Malrotation with volvulus: Can present anytime, but most often in infancy with bilious vomiting, lethargy, abdominal
distention, blood in diaper
● Patients with malrotation and intermittent or partial volvulus can present with recurrent abdominal pain or
lymphatic congestion → FTT because of malabsorption or chylous ascites. Can also have asymptomatic
malrotation as an incidental finding (see colon has weird position, see ligament of Treitz on the right)
● Diagnosis: If suspect volvulus, do an upper GI contrast series - see corkscrew or bird’s beak in duodenum

Intussusception: Healthy kid with severe intermittent abdominal pain and vomiting. Diagnose and treat with air
contrast enema.

Necrotizing enterocolitis: Preemie with abdominal distention, bloody stools, and thrombocytopenia. Pneumotosis on
abdominal xray is diagnostic. Also look for perforation! Will determine treatment.
● If no perforation → bowel rest with NG decompression, systemic abx, continue to monitor electrolytes and vital
signs. Do serial abdominal films to monitor for perforation.
● If perforation → exploratory laparatomy, remove necrotic intestinal tissue. Risk of short bowel syndrome - not
enough intestine left for adequate absorption.

Pyloric stenosis: Usually presents in weeks 3-8, more common in boys (4x). Will get hypochloremic metabolic
alkalosis from emesis. Ultrasound confirms the diagnosis. Treat with pylorotomy, but must normalize electrolytes
before surgery because alkalosis increases the risk of postop apnea.

Duodenal atresia: Presents very early with double bubble sign on xray. ⅓ have chromosomal abnormalities (e.g.,
down’s).

49
Jejunal atresia, Ileal atresia: From vascular accident, not chromosomal abnormality. Risk is increased if mom takes
vasoconstrictive medications or drugs (cocaine, tobacco). Jejunal atresia has “triple bubble” sign on xray (uworld
4890).

Case 50: Acne Vulgaris

Pubertal hormones increase sebum production. Propionibacterium acnes proliferation distends the follicular walls →
obstructs sebum flow

Acne is inflammatory or noninflammatory:

1. Noninflammatory acne: open comedones (blackheads) and closed comedones
2. Inflammatory acne: Papules (bumps under the skin) and pustules

Isotretinoin (accutane) can cause depression!

Tinea barbae: painful, itchy “zits” in the bearded areas of the face and lymphadenopathy - can be aquired through
animal exposure, more common in farmers. Treatment is oral antifungal!

Neonatal acne - affects 20%! Maybe from placental transfer of maternal androgens, hyperactive adrenal glands, and
hypersensitive infant response to androgens. May be predisposed to get acne later. Generally don’t treat.

Case 51: Posterior Urethral Valves

Urinary tract obstruction in general:

● Diagnose with fetal ultrasound
● Severe cases can cause oligohydramnios → poor lung development, contractures

Posterior urethral valves: Urethral valves are leaflets of tissue located in the the distal urethra from the prostate to
the external sphincter. Posterior urethral valves are the most common cause of severe urinary obstruction in boys - 1
in every 5k to 8k; up to 30% already have end-stage renal disease or chronic renal insufficiency. OCCURS ONLY IN
BOYS!
● Symptoms: abdominal mass with dribbling urine stream in a newborn
● Diagnosis: renal ultrasound can show obstruction, voiding cystourethrogram (VCUG) is diagnostic - do
these in an infant boy with a UTI
● Treatment: Bladder catheterization, then endoscopic transurethral valve ablation if serum creatinine is normal
and urethral size permits. Otherwise, might have to do emergent vesicostomy.

Vesicoureteral reflux: backflow from bladder into ureters. If severe, can go into the kidney. More common in females,
can cause recurrent UTIs and diminished renal function.
● Grading: I-V. High grade is unlikely to resolve on own.
● Treatment: Depends on severity - maybe surgery, maybe just abx prophylaxis (bactrim, nitrofurantoin,
trimethoprim solo). Do urinalysis and urine culture every 3-4 months.

Chronic constipation is a risk factor for recurrent cystitis in toddlers Impacted stool can cause rectal distenstion
→ compresses bladder, prevents complete voiding, leads to urinary stasis

Acute lobar nephronia: Progression from pyelonephritis, not quite an abscess. See a wedge-shaped area with
minimal contrast enhancement. Suspect if the patient’s fever won’t resolve. Diagnose with CT or renal ultrasound.
Treat with prolonged abx.

Prune belly syndrome = Eagle Barrett syndrome: malformation that happens mostly in males. Lax, wrinkled
abdominal wall that looks like a prune. Dilated urinary tract, and intraabdominal testicular tissue. Can have kidney
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malformations that cause lung problems. Also congenital hip dislocation, clubfeet, and intestinal malrotation with
possible secondary volvulus. No genetic predisposition!
● 50% die in utero, 50% die in the first two years

Beckwith Wiedemann syndrome: Wilms tumor, hepatoblastoma, gonadoblastoma, macroglossia (huge tongue),
hemihypertrophy (some parts or one side are enlarged). Born big, risk of hypoglycemia, but resolves in early infancy.
Intellect usually normal.
● Monitor for wilms tumor and hepatoblastoma with abdominal ultrasound and AFP levels every three months
until age four, then abdominal ultrasound years 4-8, then renal ultrasound through adolescence

Nocturnal enuresis (bedwetting): more common in boys - 15% of 5 y/o, with 15% resolving each year. FH is
common. Enuresis alarm works in up to 90%. Can treat during special nights with desmopressin, but will symptoms
return once the medication is stopped.
● Desmopressin can cause hyponatremia if too much fluid is consumed at night

Kidney reabsorption problems

1. Nephrogenic diabetes insipidus: Kidney doesn’t respond to ADH → excessive thirst, lots of peeing, failure to
thrive.
● Diagnose by measuring serum sodium and urine specific gravity during a controlled fluid restriction challenge
● Treat with adequate fluid intake and diet and saluretic meds (to promote sodium excretion)
● Usually x linked recessive, but can be autosomal dominant or recessive
● Can be acquired with lithium, methicillin, rifampin, and amphotericin

2. Renal Tubular Acidosis: SEE UW 4828

● Type 1: Distal, ph > 5.5: alpha intercalated cells normally absorb K+ and secrete H+, but they don’t work here
→ acidosis and hypokalemia. Positive anion gap.
● Type 2: Proximal, pH < 5.5: Defect in PCT reabsorption of HCO3- → acidosis. Assoc’ed with hypokalemia
● Type 4: Hyperkalemic, ph < 5.5: Hypoaldosteronism, aldosterone resistance, or K+ sparing diuretics.
Hyperkalemia impairs ammmonia genesis in the PCT → decreased buffering capacity and decreased H+
secretion. Positive anion gap.

3. Hereditary Fanconi Syndrome: PCT fails to reabsorb amino acids, glucose, bicarb, and phosphate.
● Anorexia, polydipsia, polyruia, vomiting, and unexplained fevers, along with glucosuria but normal blood sugar,
abnormally high urine pH with mild/moderate hyperchloremic metabolic acidosis, and mild albuminuria but
normal serum protein and albumin.

4. Bartter syndrome (like loop diuretic): Defective Na/K+/2Cl- cotransporter in the thick ascending loop of
Henle → hypokalemia, metabolic alkalosis with hypercalciuria. BP is usually normal.

5. Gitelman Syndrome (like thiazide diuretic): Defective NaCl reabsorption in the distal convoluted tubule. AR.
Get hypokalemia due to increased sodium delivery to the collecting tubule, but no hypercalciuria

6. Liddle syndrome: Increased reabsorption of Na+ in the distal and collecting tubules. AD. Get hypertension,
hypokalemia, metabolic alkalosis, and decreased aldosterone (don’t need it!). Treat with amiloride to block
aldosterone receptor.

Idiopathic hypercalciuria: recurrent gross hematuria, persistent microscopic hematuria, and complaints of dysuria
(e.g., burning during urination) or abdominal pain without initial stone formation. Over time, stones form in 15%.

Kidney stones: Diagnose with non contrast spiral CT of abdomen and pelvis - can see stones and assess for
hydronephrosis
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 ● Stone in distal ureter: dysuria, urgency, frequency
● Stone in urethra: dysuria and voiding difficulties. Pain radiates into the scrotum.

Misc:
● Epididymitis: Redness, warmth, scrotal swelling but normal cremasteric reflex. Testicle size and position are
normal. Pain is posterior over the epididymis and elevating the testicle might make it feel better.
● Testicular torsion: acute scrotal pain, get surgery consult ASAP - have to act within 4-6 hours to save the
testicle
● Hydrocele: small ones usually resolve in first year. Larger ones likely require surgical repair.
● Vulvovaginitis: 70% caused by chemical irritation. Brown or green discharge, bad smell, burning with
urination as urine contacts raw skin. Advise loose fitting clothes, avoid bubble baths, wipe front to back.
Estrogen cream or antibiotics can also help. Pinworms can infect the vagina but would be itchy.

Case 52: Attention Deficit Hyperactivity Disorder

ADHD: 3-10% of school aged kids, up to 25% if a primary relative is affected

● Criteria: inattentiveness, hyperactivity/impulsivity in 2 or more settings. Symptoms must be present for at least
6 months, started before 7 years, and result in impaired function
● Psychological and developmental testing is important and should come before the development of a
management plan - often have psych and learning disorders at the same time: Oppositional defiant disorder
(35%), conduct disorder (25%), anxiety disorder (25%), depression (18%)
● Treatment: Behavioral modification (positive and negative reinforcement), methylphenidate,
dextroamphetamine, atomoxetine (strattera)
● Prognosis: 50% do well in adulthood, 50% continue to have problems

Oppositional-defiant disorder: pattern of angry/irritable mood and argumentative/defiant behavior towards authority
figures. They are tempermental, hostile, and defiantly break rules

Conduct disorder: violate major social normal or the rights of others - aggression, property destruction, theft,
deceitfulness, rule violations. Greater risk in kids with ADHD

OCD: treat with high dose SSRIs (fluoxetine), even if PANDAS

Anorexia/bulimia and refeeding syndrome

Starvation state causes decreased insulin, increased glucagon, and increased cortisol. Electrolytes are depleted. Then
start refeeding, increased insulin will shift phosphorus, potassium, magnesium, and thiamine into cells
● Decreased serum phosphorus: the worst part - can’t make ATP!
● Deficient potassium and magnesium → arrhythmias
● Can end up with cardiopulmonary failure! Potentially fatal.

Case 53: Osgood-Schlatter Disease

Osgood-schlatter disease: Painful inflammation (traction apophysitis) of the tibial tubercle, which is an extension fo
the tibial epiphysis/growth plate. Found exclusively in adolescents (usually males) prior to closure of the growth plate.
● Rapid growth → quadriceps tendon puts a lot of stress on the tibial tubercle. Then repetitive running and
jumping causes traction and microstress fractures → inflammation, edema, tenderness, bony changes. Think
basketball players!
● NO CONSTITUTIONAL SIGNS OR SYMPTOMS ARE INVOLVED! If have fever, joint erythema, fatigue,
weight loss, night sweats, bruising, or cough, think of something else.
● Diagnosis: Clinical!
● Treatment: Decreased activity, maybe ice after exercise and NSAIDs. Symptoms can recur until ossification is
complete.

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Differential dx:
● Patellofemoral stress syndrome: Common in athletes. Chronic, dull, pain that localizes on the patella and is
worse when descending steps or going down hill.
● Jumper’s knee/patellar tendonitis: microscopic patellar tendon injury → chronic anterior knee pain and
tenderness at the lower patella, not on the tibial tuberosity
● Prepatellar bursitis: Chronic inflammation of the anterior knee - pain with direct pressure and superficial
swelling
● Iliotibial band friction syndrome: lateral knee pain in rummers
● Slipped capital femoral epiphysis (SCFE): overweight adolescents during the growth spurt → limp and
groin, thigh or (referred) knee pain. Have limited hip flexion, internal rotation, and abduction.
○ Risk of avascular necrosis of the femoral epiphysis → put on bedrest and have ortho evaluate
● Septic arthritis: Often Neisseria gonorrhea! Joint is tender, edematous, warm, erythematous, significantly
decreased range of motion.
● Misc: trauma, tumor, leukemia, septic joint

Sports injuries in general

● Skiers: thumb injuries and ACL injuries
● Swimmers: shoulder injuries
● Basketball and volleyball: osgood-schlatter and ankle or knee sprains
● Wrestlers: shoulder injuries, knee injuries (prepatellar bursitis from traumatic impact with the floor), skin
conditions (fungus, contact dermatitis, herpes, impetigo, staph, folliculitis)

Osteomyelitis: fever and focal bone pain, most often hematogenous but can be from continuous spread (e.g., staph
aureus cellulitis).
● xrays can take a week to show signs! Diagnostic bone changes may not appear for 12 days. Bone scans and
MRI can be useful in diagnosis within 24-48 hours. But falsely normal bone scans can happen - give abx
without waiting, usually treat for 3 weeks.

Case 54: Torticollis

Torticollis: obviously twisted neck with the head twisted to one side and the chin tilted to the opposite side. Presents
at birth or soon after.
● Often caused by injury to the sternocleidomastoid muscle, often birth trauma. Higher risk with breech babies,
hip dysplasia, and metatarsus adductus.
● Diagnosis: Usually have a palpable, firm mass within the affected muscle. Do cervical spine xray to rule out
vertebral malformations.
● Treatment: If spine is normal → gently stretch the SCM. If persists > a few months → call orthopedic surgeon.
Persistent torticollis can cause facial assymmetry!

If torticollis presents later, it’s usually caused by trauma, inflammation, or neurologic conditions.
● Inflammatory torticollis often follows a URI - have muscular pain and tenderness, normal neuro exam. Can
also be caused by cervical lymphadenitis (afebrile, palpable tender lymph nodes), retropharyngeal abscess
(fever, dysphagia, dyspnea, drooling, or stridor secondary to compression), cervical vertebral osteomyelitis,
rheumatoid arthritis, and upper lobe pneumonia.
● Neuro conditions include Down syndrome, visual disturbances, reactions to meds (phenothiazine, haloperidol,
metoclopramide - reverse with diphenhydramine), spinal cord lesions, Wilson disease, others.

Klippel-Feil syndrome: Can present as torticollis. Have congential fusions of cervical vertebrae → restrictricted neck
movements, short neck, low hairline, and sprengel deformity (congenital elevation of the scapula). Also have
structural urinary tract abnormalities.

53
Sandifer Syndrome: GERD, hiatal hernia, and posturing of the head (intermittent torticollis) - thought to be in
response to pain or to protect the airway.

Case 55: Congenital Cataracts

Aphakia: Absence of the lens

Congenital cataracts: Affect 2 in 10k births; isolated condition in 50-60%, syndromic in 20-25%.
● Work up includes ToRCH titers, evaluate for galactosemia (part of newborn screen - deficient uridyl
transferase, so can’t convert galactose 1P to glucose 1P → must stop breastfeeding and switch to soy or
casein hydrolysate infant formula), full opthy exam and ocular ultrasound.

ToRCH infections: Nonspecific signs common to most types include hepatosplenomegaly, jaundice,
thrombocytopenia, and growth retardation.
● Toxoplasmosis: Chorioretinitis, hydrocephalus, and intracranial calcifications. Can also have other
symptoms similar to the other congenital infections, like anemia, petechial rash, organomegaly, jaundice, and
seizures.
○ Often asymptomatic until adulthood when chorioretinitis develops
● Rubella: Classic triad is cataracts, PDA (or pulmonary artery hypoplasia), and deafness +/- blueberry muffin
rash. Structural heart defects are typical of congenital rubella but not the other TORCH infections.
Urine can contain rubella for up to six months.
● CMV: hearing loss, seizures, petechial rash, blueberry muffin. Can also have intracranial calcifications -
like toxo - but will have microcephaly instead of hydrocephaly. MOST COMMON INFECTIOUS CAUSE
OF CONGENITAL SENSINEURAL HEARING LOSS
● Syphillis: Often stillbirth w/ hydrops fetalis. Or maybe born with hepatosplenomegaly, anemia, runny nose, and
lesions on the palms and soles, maybe deafness. If survive, will develop facial abnormalities, notched teeth,
saddle nose, short maxilla, and saber shins

Mucopurulent discharge from an eye, but no involvement of cornea or conjunctiva → eyedrop abx

Infantile glaucoma: 1 in 100k births with tearing, photophobia, and blepharospasm. Eye may be enlarged.

Other eye infections/conditions:

● Trachoma: follicular conjunctivitis and pannus (neovascularization) of the cornea caused by chlamydia
trachomatis. Concurrent infection in the nasopharynx → nasal discharge. Repeat infections can cause corneal
scarring; it’s a major cause of blindness around the world
○ Treat with topical tetracycline or azithromycin.
● Herpes simplex keratitis: pain, photophobia, decreased vision. Dendritic ulcers are common, might see
vesicles in the corneal epithelium
● Gonococcal conjunctivitis: copious, purulent discharge 2-3 days after birth. Give erythromycin within one
hour of birth for prophylaxis (doesn’t prevent chlamydial conjunctivitis!)
● Viral conjunctivitis: red conjunctiva with copious watery discharge. Most often adenovirus, especially with
swimming pools
● Dacryocystitis: Infection of the nasolacrimal sac, maybe due to failure of epithelial cells to canalize. Treat with
nasolacrimal massage and clean with warm washclothes. Failure to open by 6 months → ophthamology for
surgery. If infected, get abx to clear.
● Chalazion: firm, nontender nodule from chronic granulomatous inflammation of the meibomian gland.
● Hyphema: Blood in anterior eye
● Oribital/septal cellulitis: distinguish from preseptal cellulitis because this will involve decreased vision and
EOMs, pain with eye movements, maybe proptosis.
○ Staph aureus and strep pneumo are the most common causes, often follows bacterial sinus infection.
○ Complications include orbital abscess, intracranial infection, and cavernous sinus thrombosis

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 ○ Treat orbital cellulitis with inpatient IV abx, preseptal with outpatient oral abx
● Cavernous sinus thrombosis: periorbital edema, exophthalmos, and chemosis, with papilledema and dilated
tortuous retinal veins. Eye swelling starts unilaterally but involves the other eye within 24-48 hours. Will have
CN symptoms because CN 3, 4, 5, and 6 pass through the cavernous sinus

Other congenital infections:

● Hepatitis B: Baby born to Hep B positive mother gets Hepatitis antibodies and hepatitis B vaccine (to prevent
later infection)
● Varicella: If mom gets chicken pox 5 days before delivery or 2 days after, baby gets varicella immunoglobulin.
If baby is exposed around birth, give acyclovir. If baby is exposed > 2 days after birth, just watch.
○ Varicella exposure with kids: if immune competent, give varicella vaccine. If IC’ed, give varicella
immunoglobulin

Case 56: Severe Hearing Loss

1. Conductive hearing loss: problem with the outer ear (external auditory canal atresia) or middle ear (otitis
media, cholesteatoma)
2. Retrocochlear (central) hearing loss: Hearing loss caused by deficits in the auditory nerve or CNS
3. Sensorineural hearing loss: Cochlea disorders (infection, noise, ototoxic agents, genetics).
a. 50% genetic.
i. Most common is autosomal dominant Wardenburg syndrome types 1 and 2: Partial
albinism (white forelock), deafness, heterochromic irises
ii. Brachio-oto-renal syndrome: Hearing impairment, preauricular pits and external ear
abnormalities, renal impairment, brachial fistulas
iii. Alport syndrome: nephritis + progressive kidney failure, sensineural hearing loss, ocular
abnormalities
iv. Down syndrome
v. Neurofibromatosis
vi. Jervell and Lange Nielsen syndrom (prolonged QT)
vii. Hunter-Hurler syndrome
b. Increased risk for otogentic meningitis - should be vaccinated against strep pneumo

Postnatal infections associated with acquired SNHL: group B strep sepsis, strep pneumo or H flu meningitis,
measles, mumps, rubella, CMV

Drugs: aminoglycosides, loop diuretics, chemo (cisplatin), isotretinoin, lead, arsenic, quinine

Newborn screen: Mandatory in most states with otoacoustic emissions or auditory brainstem evoked potentials. Goal is
to dx by 3 months, intervene by 6 months.
● Especially important for babies born with Apgar scores < 4 at 1 min and < 6 at 5 mins, family history of SNHL,
CMV, rubella, syphilis, herpes, or toxo infection, craniofacial abnormality, low birth weight, hyperbilirubinemia
requiring exchange transfusion, bacterial meningitis, mechanical ventilation for more than 5 days

Speech development
1. 1 year = 2-4 words + mama and dada
2. 2 year = 50 words + 2-3 word sentences
3. 3 years = 250 words + 3 word sentences

Case 57: Immune Thrombocytopenic Purpura

Evaluation of thrombocytopenia:
1. Is Hgb normal? Is WBC normal? If yes → bone marrow infiltration is unlikely

55
 2. Any systemic signs of illness? If yes → maybe HUS, DIC. If no → ITP

HUS: nephropathy, thrombocytopenia, and microangiopathic hemolytic anemia. Assoc’ed with EHEC, shigella, and
salmonella. Often have a prodrome of bloody diarrhea

Henoch-Schonlein Purpura: Small vessel vasculitis in kids, often follows URI. Associated with IgA nephropathy. Risk
of intussesception.
● Palpable purpura + nephritis (decreased urine output, edema, scrotal swelling hematuria) + GI symptoms
(abdominal pain, GI bleeding, intussception, hepatosplenomegaly), and arthritis
● Diagnosis: Hemolytic anemia and thrombocytopenia. See helmet cells, burr cells, and fragmented RBCs.
Hematuria, proteinuria, and elevated serum creatinine. Will have normal platelet count. Renal biopsy would
show IgA in mesangium.
● Treatment: Hydration and pain control. Get urinalysis to monitor kidney function - might need dialysis.

Immune thrombocytopenic Purpura: Circulating antiplatelet antibodies (most often antiglycoprotein IIb/IIIa) → low
platelets.
● The most common cause of thrombocytopenia in a kid 2-10 years. Often follows viral illness after 1-4 weeks.
● Can be drug induced! Watch out for penicillins, bactrim, digoxin, quinine, quinidine, cimetidine (H2 receptor
antagonist), benzodiazapenes, and heparin.
● Diagnosis: First examine the peripheral blood smear - platelets themselves are normal size or large. Might
have eosinophilia or atypical lymphocytes, but no immature WBCs or abnormal RBCs. PT and PTT are
normal.
○ If blood smear looks weird, WBC count is abnormal, or adenopathy/organomegaly → do bone marrow
evaluation. Will see increased numbers of megakaryocytes in ITP
● Prognosis 70-80% resolve in a month or a few months. If > 6 months, considered chronic (10-20%) - can occur
with autoimmune disease, HIV, or EBV. Treat the same as acute ITP.
● Treatment; If severe (< 20k) or have complications, give treatment: IVIG, IV anti-D therapy, 2-3 weeks of
corticosteroids. Platelet transfusion only if life threatening bleeds! Otherwise just observe.
○ Splenectomy if serious complications and no response to treatments - then give pneumococcal
vaccine and penicillin prophylaxis.

Hemophilia: Hemophilia A is deficiency of factor 8, hemophilia B is deficiency of factor 9. Inherited x-linked recessive.
Males are severely affected, females may be mildly simptomatic.
● Hemophilic arthropathy is a late complication from iron/hemosiderin deposition → synovitis and fibrosis within
joints. Presents with chronic worsening joint pain and swelling, can result in contractures and limited range of
motion. Early detection with MRI - later damage is visible on xray. Can’t prevent, but giving factor replacement
can reduce risk

Case 58: Child Abuse

Neglect is the most common form of abuse.

Physical abuse vs. corporal punishment is determined when there are marks left.

Shaken baby: seizures, respiratory arrest, bulging fontanelle, irritability, retinal hemorrhages.

Diagnosis:Note that xrays might not show fractures for 1-2 weeks! Might need bone scan - can show fractures 24-48
hours after injury.
● Accidental bruises are usually over bony areas - abdomen, thighs, butt, and inner arm are less often.
● Intentional hot water immersion leaves a sharp border, often stocking-glove distribution

Nursemaid’s elbow: Kid holds the elbow flexed and the forearm pronated - treatment is to supinate the forearm while
applying pressure over the radial head.

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Osteogenesis imperfecta: autosomal dominant; long bone fractures and vertebral injury with minimal trauma, short,
deaf, blue sclera

Spondylolisthesis: developmental disorder where a vertebra slips forward over another one (usually L5 over S1),
creating back pain, neurological dysfunction (e.g., incontinence), and a palpable step off. Usually manifests in
preadolescent kids

Case 59: Foreign Body Aspiration

Watch for good health just before developing respiratory symptoms - this is a big red flag! Most likely explanation is
foreign body aspiration or anaphylaxis.

Symptoms of aspiration: Generally respiratory distress, cough, and stridor, maybe also aphonia (hoarse voice). Can
also have object lodge in a bronchus (most often right mainstem) and cause cough, wheeze, and decreased breath
sounds over the affected side. Can end up with atelectasis or pneumonia. 20% not caught until 1 month later.
● Stridor: Monophonic (single pitch) sound that is louder over the upper chest - can be supraglottic (above vocal
cords), glottic, or subglottic. Contrast wheezing, which is from the blockage of multiple small airways and is
best heard over the lung bases.
● Tachypnea: Average bpm for an infant = 30, 8 y/o= 20, adult = 16
● Partial obstruction → air trapping on expiration, hyperinflation. Complete obstruction → atelectasis, post-
obstructive pneumonia, localized bronchiectasis (late feature)

Diagnosis: Rigid bronchoscopy is diagnostic and therapeutic for the airway! Do even if the xray is normal! CXR
is of limited utility because often the object is radiolucent (plastic)
● Xray will show coins (AP CXR - linear in trachea, circular in esophagus with more mild respiratory symptoms).
● Xray won’t show plastic, etc. but might see other clues like air trapping when the obstructed lung stays inflated
on PA expiratory film and mediastinum might be shifted to the normal lung side.
● Use endoscopy if the object is in the esophagus.

Differential dx:
1. Croup (largyngotracheobronchitis): often presents at night with fever, hoarseness,BARKY COUGH, recent
history of runny nose or congestion, INSPIRATORY STRIDOR AND NO HIGH FEVER - many viruses can
cause it, often parainfluenza. X ray of the neck may show a tapered subglottic airway = steeple sign.
Presents in Kids < 3 years
a. Treatment: Aerosolized racemic epinephrine and corticosteroids. Monitor O2 sat. Do not upset the
kid or do invasive airway exams unless absolutely necessary - can worsen the edema. Cool mist is
often used to relieve laryngospasm, evidence is weak.
b. Related conditions:
i. Can get bacterial tracheitis (staph aureus, moraxella, H flu) 5-7 days later - can cause life
threatening airway obstruction
1. Can distinguish from croup based on INSPIRATORY AND EXPIRATORY STRIDOR
AND HIGH FEVER!!!
2. Treat with endotracheal intubation and IV abx
ii. Spasmodic croup: Appear well during the daytime, but have sudden onset of nighttime
hoarseness, barky cough, inspiratory stridor in a previously healthy afebrile child. Maybe
caused by viruses, allergies, GERD, and psychosocial factors.
2. Epiglottitis - H flu, rare because of Hib vaccine. Can be strep pneumo or staph aureus. Presents with
drooling, muffled voice, inspiratory stridor, NO COUGH, preference to sit in a tripod or upright position, neck is
hyperextended

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 a. Medical emergency! Go to the OR for tracheal intubation or tracheostomy. Do not visualize the
airway! Can cause obstruction.
3. Noninfectious causes: retropharyngeal abscess, angioedema, tracheomalacia, extrinsic airway compression
(aortic/vascular ring, tumor), intraluminal obstruction (papilloma, hemangioma)
a. Tracheomalacia: Inspiratory stridor appearing in infancy that is worse in supine position, better in
prone (think of frontal floppy airway). If mild, have inspiratory stridor only intermittently (with crying).
Usually improves by 18 months.t
b. Aortic/vascular ring: Presents before 1 year with expiratory stridor that improves with neck
extension, 50% will have other cardiac anomalies (e.g., VSD). Also look for esophageal difficulties -
tough time feeding, coughing, etc. Diagnose with barium contrast esophagram, bronchoscopy, CT, or
MRA.
c. Angioedema: Autosomal dominant defect in C1 esterase → end up with too much kinin → excessive
vasodilation.
i. Episodic swelling of hands and feet and GI tract (pain, vomiting, diarrhea) that occurs after
exercise and stress and resolves in a few days.
ii. Risk of laryngioedema (changes in voice, difficulty swallowing) that can obstruct airway.

Object in the esophagus: Remove batteries, magnets, and sharp objects ASAP with flexible endoscopy (think of a
flexible esophagus vs. a rigid bronchus which requires rigid bronchoscopy).
● Batteries should be removed from the esophagus, but can be observed if more distal as 90% will pass on their
own - just follow up with with stool examination or xrays
● For coins, remove with flexible endoscopy if > 24 hours have pssed, time of ingestion is unknown, or patient is
symptomatic.

Case 60: Kawasaki Syndrome

Kawasaki Syndrome: A generalized vasculitic disease of medium-sized arteries assoc’ed with fever and exanthem of
unknown etiology, but thought to be infectious. Most often < 5 yrs, more common in Asians and boys. Risk of coronary
aneurysms! (Do echo to monitor). Most common cause of acquired heart disease in kids.
● Symptoms: Must have fever for at least 4 days, plus ⅘ of the following”
○ BILATERAL NONPURULENT CONJUNCTIVITIS - key to distinguishing from other illnesses
○ Oropharyngeal mucosal changes - pharyngeal edema, red cracked lips, strawberry tongue
○ Polymorphorous generalized erythematous rash - especially in the perineum which may have
desquamination
○ Swollen hands or feet and red palms and soles (acute phase), then desquamination
○ Acute nontender cervical lymphadenopathy - usually unilateral, > 1.5 cm
○ May also have:
■ Abdominal pain, RUQ pain, and vomiting - maybe due to hydrops of gallbladder - also seen
in GAS, leptospirosis, and Henoch Schonlein purpura.
■ Arthralgias, arthritis, anterior uveitis
■ Cardiac abnormalities - coronary arteries, valves, pericardial effusion, or congestive heart
failure.
■ RISK OF CORONARY ANEURYSM: Greatest in boys, fever > 10 days, < 1 year old, low
serum albumin or Hgb, early cardiac findings (e.g., mitral regurg, pericardial effusion),
thrombocytopenia.
Can get coronary aneurysms with incomplete disease! Incomplete disease more likely in babies
● Hydrops of the bladder: Often assoc’ed with KS, GAS, leptospirosis, and Henoch Schonlein purpura.
● Diagnosis:
○ No labs are diagnostic. But elevated ESR and CRP, normocytic anemia, leukocytosis, and
ELEVATED PLATELETS (> 450k after 10 days of illness) support the diagnosis. Elevated platelets
are key - distinguish other illnesses.
○ May see sterile pyuria, CSF pleocytosis, mildly elevated hepatic transaminases

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 ○ Differential dx: Strep disease, toxic shock syndrome, rickettsial infection, measles, EBV, drug
hypersensitivity, systemic onset juvenile arthritis, leptospirosis.
● Treatment: High dose aspirin and IVIG - should improve quickly in 2-3 days. Reduces cardiac complications
from 25% to 5%. Reduce aspirin to antithrombotic level and continue 6-8 weeks until ESR is normal.

Hydrops of gallbladder: Acute distention of GB without stone or inflammation.

NOTE:
● Must delay live virus vaccines (MMR, varicella) for 11 months after IVIG! Can give MMR (usually given at
1 year) if the exposure risk is high, but will have to reimmunize later unless titer testing is okay.
● All kids on aspirin should get the flu vaccine! Normally recommended > 6 months. Give to kids on aspirin
because the risk of Reye syndrome if they get the flu while on aspirin.

Reye syndrome: Acute encephalopathy and liver dysfunction, with ⅓ dying from the disease! Liver disease is
microvesicular fatty infiltration and hepatic mitochondrial dysfunction. Get increased liver enzymes, increased PT and
PTT, and increased ammonia. The increased ammonia causes cerebral edema and encephalopathy.

Scarlet fever: A complication of untreated strep pharyngitis. Can present similarly to Kawasaki, but the rash has a
sandpaper texture and will spare the palms and soles. Also strep pharyngitis has tonsillar exudates.

Leptospirosis:
● Most common zoonotic infection worldwide - exposure to cats, dogs, livestock, rats, etc.
● Two distinct types of infection anicteric leptospirosis and icteric leptospirosis (Weil syndrome).
○ Both types start with fever, chills, severe muscle pain, pharyngitis, scleral injection, photophobia, and
cervical adenopathy. Then no symptoms for a few days → “immune phase” where mengingitic
symptoms retrun and can last for a month.
○ Only 10% are icteric, but those that are have more severe symptoms with liver and kidney dysfunction
● Treat with penicillin and tetracycline (in kids over 10 days)

Measles = Rubeola. Malaise, high fever that peaks at the height of the diffuse, descending rash, cough, coryza
(inflammation of oral mucous membranes), conjunctivitis, koplik spots. Rash lasts 6 days. Can have T-cell leukopenia
and thrombocytopenia (contrast Kawasaki, with high platelets)
● Can get subacute sclerosing panencephalitis years later, 1 in 2000 get encephalitis, also giant cell pneumonia
and myocarditis

Rubella: Mild disease. Diffuse rash that lasts for 3 days, marked enlargement of posterior cervical and occipital lymph
nodes, low grade fever, mild sore throat, conjunctivitis, arthralgias or arthritis.

Mumps: Swelling in front of and behind the ear on the affected side (parotitis), altered taste sensation, orchitis, and
can have meningitis 10 days after resolution of the swelling. Treatment is supportive.

Roseola = HSV6: High fevers that can cause seizures followed by a diffuse macular rash that comes on as the fever
ends

Parvovirus B19 = Fifth disease = Erythema Infectiosum. Presents with mild URI symptoms, retroauricular/posterior
cervical/postoccipital lymphadenopathy. Starts with bright erythema of cheeks and then red maculopapular rash on the
trunk and extremities that clears in about 72 hours.

Rabies: Sources of infection is racoon, skunks, bats, foxes, cyotes. Small rodents (rabbits, mice, squirrels) rarely have
the disease.
● Give post exposure prophylaxis even if no obvious bite: clean the wound, rabies immuno globulin, and rabies
vaccine series
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Lyme disease: starts with localized disease including erythema migrans, possibly flu-like symptoms, followed by
distinctive period of erythema migrans, arthrlagias, arthritis, and occassionally meningitis, neuritis, and cardiac
arrhythmias
● Joint involvement usually days to years after rash. Starts as migratory arthralgias, then goes to arthritis,
usually of the knee. Joint tap will show translucent fluid with 25k leukocytes, lots of neutrophils, negative gram
stain
● Lab data is usually normal when only rash is present
● Treat with doxycycline if > 8 years old. If < 8, give amoxicillin

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Pediatrics PreTest

Chapter 1: General Pediatrics

19: Treat scabies with permethrin cream - also good for lice in children that are too young for lindane

54-48: There are several classifications for tissue damage caused by extreme cold including:
● Frostnip is a superficial cooling of tissues without cellular destruction. Firm, white cold areas → blistering
and peeling, sensitive but not painful
● Chilblains are superficial ulcers of the skin that occur when a predisposed individual is repeatedly
exposed to cold - get damage to capillary beds → redness, itching, blisters, and inflammation.
● Frostbite involves tissue destruction. White/yellow → blotchy and painful
● Panniculitis: Destruction of fat cells caused by exposure to cold weather or a cold object

Chapter 2: Newborn

Medications while breastfeeding are usually safe.

● Exceptions: lithium, cyclosporin, antineoplastic agents, illicit drugs (cocaine, heroin), amphetamines,
ergotamine, bromocriptine (suppresses lactation), propranolol (can reduce growth throughout the pregnancy
and reduce baby’s ability to increase heart rate and CO at delivery)

Birth trauma:
● Erb-Duchenne paralysis: affects C5 and C6 nerve roots → useful hand on useless arm
● Klumpke paralysis: C7 and C8 nerve roots → useless hand on useful arm.
○ Can have ipsilateral ptosis and miosis (Horner’s syndrome) from injury to sympathetic fibers that
run along C8 and T1.
○ Can happen with shoulder dystosia, humeral and clavicular fractures
● 80% of brachial plexus injuries will recover spontaneously on their own within three months - just give
reassurance. Prognosis depends on whether the nerve was stretched/compressed or totally torn - no need for
MRI initially. But if no recovery, then do surgery at 3-6 months. Outcome is variable.
● Can distinguish peripheral injury from central injury (stroke) due to absence of hyperreflexia and excessive
tone

Vaccines:
● Give Hep B at birth,
● Hib, DTap and IPV start at 2 months
● MMR and Hep A at 12 months

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 Chapter 10: Endocrine, Genetic, and Metabolic Disorders

Metabolic disorders:

Tay Sachs (AR)

Onset: 2-6 months, dead by 2-5 yrs
Symptoms: Progressive
neurodegeneration = hypotonia,
weakness, abnormal startle reflex,
macrocephaly from accumulation of
glycolipids. No splenomegaly!
Signs: Cherry red spot, onion skin
lysosomes
Enzyme: Hexosaminidase
Build up: GM2 ganglioside

Move down

Metachromatic Leukodystrophy Fabry Disease (X-linked rec)

(AR) Onset:
Onset: 1 year to early adulthood Symptoms:burning painful hands and
Symptoms: dementia, ataxia, feet from neuropathy,
peripheral muscle wasting angiokeratomas, cardiac and renal
Signs: Central and peripheral disease,
demyelination Signs:
Enzyme: Sulfatase A = cerebroside Enzyme: alpha galactosidase aka
deamidase trihexosidase
Build up: cerebroside sulfate Build up: ceramide trihexose =
globoside
Treatment: replace enzyme!

Move right Move left

Krabbe Disease (AR) Gaucher Disease (AR) Neiman Pick (AR)

Onset: babies
Symptoms: peripheral neuropathy,
developmental delay, optic atrophe,
hyperacusis, irritability, seizures
(eyes like krabbe apples)
Signs: Globoid cells
Enzyme: Galactocerebrosidase
Build up: galactocerebroside
Move right
Onset:
Symptoms: Most common form is
adult type 1 and doesn’t involve
CNS. Bone marrow gets replaced
with enlarged Gaucher cells →
anemia, leukopenia, and
thrombocytopenia. Liver and
spleen can be involved.
Signs: erlenmyeyer flask femur,
gaucher cells are engorged in bone
marrow
Enzyme: beta glucocerebrosidase
Build up: glucocerebroside
Treatment Replace enzyme
Onset:
Symptoms:Progressive
neurodegeneration,
hepatosplenomegaly, cervical
lymphadenoapthy
Signs: Cherry red spot on macula,
foam cells, erlenmeyer flask femur
Enzyme: Sphingomyelinase
Build up: Sphingomyelin
Move left

Tyrosinosis: Accumulation of tyrosine and metabolytes → severe involvement of liver, kidney, and CNS. Can have
acute liver failure in infancy, more chronic form with progressive cirrhosis that causes liver failure or hepatoma. Dietary
management won’t prevent liver disease. : (

Mucopolysaccharides
1. Hunter syndrome - mild Hurler symptoms, aggression, no corneal clouding
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 2. Hurler syndrome - born normal but then progressive developmental delay, hepatosplenomegaly, and coarse
facial features from deposition of dermatan sulfate and heparan sulfate in the body. Also cloudy corneas,
deafness, claw hand, umbilical hernia.
a. Will have excessive excretion of those substances in the urine.

Trouble with carbohydrates

● Glucose 6 phosphatase deficiency = von Gierke’s = Glycogen storage disease type 1: Can’t convert
glucose 1P to glucose → impaired gluconeogenesis.
○ Causes hypoglycemia, lactic acidosis, hepatomegaly, doll-like face, thin extremities, short, milky
appearing blood from increased triglycerides.
○ Abnormally small aqueous compartment of serum causes factitiously low Na+ and K+

Electrolyte abnormalities
● Addison disease: combined deficiency of glucocorticoids and mineralocorticoids. Usually have normal
electrolytes, but Addisonian crisis will cause hyponatremia, hyperkalemia, and shock
● Conn syndrome: Primary hyperaldosteronism → hypernatremia and hypokalemia with alkalosis
● 21 hydroxylase deficiency: lack of aldosterone and cortisol. Have hyponatremia and hyperkalemia
● Diabetes insipidus: central or nephrogenic. Either way end up with high concentrations of sodium and
potassium.

Other zebras:
● Jeune syndrome = asphyxiating thoracic dystrophy: short stature, long and narrow thorax, hypoplastic
lungs, fibrotic liver, and short limbs. Death from pneumonia or asphyxia.
● Crouzon syndrome: AD condition with craniosynostosis, proptosis, brachycephaly, hyperteolorism and
strabismus, beak nose, midface hypoplasia, high and narrow palate
● Cri-du-chat syndrome: Cat cry, microcephaly with protruding metopic suture, hypotonia, short stature. From
deletion of 5p.
● Alkaptoniuria: AR disorder caused by deficiency of homogentistic acid oxidase, part of metabolism of tyrosine
on the way to the TCA. Urine turns dark on exposure to air because of oxidation of homogentisic acid derived
from tyrosine that backs up, otherwise asymptomatic in kids.
○ In adults, get ochronosis - deposition of blue pigment in cartilage and fibrous tissue, may get arthritis.
○ No treatment available, but vitamin C may delay symptom onset.
● Lesch-Nyhan syndrome: X-linked recessive deficiency in hypoxanthine-guanine phosphoribosyl transferase
(HPRT) means that kids can’t recycle purines, have to make them fresh, which causes excessive uric acid
production.
○ Symptoms: self-mutilation (biting), neuro features (MR, dystonia, choreoathetosis, spasticity), gouty
arthritis and tophi - suspect if you see a boy with gout!
○ Treat with allopurinol or febuxostat

Zebras that cause obesity in kids:

● Laurence-Moon-Biedl (Bardet-Biedl) syndrome: AR, obesity, MR, hypogonadism, polydactyly, retinitis
pigmentosa with night blindness
● Frohlich syndrome = adiposogenital dystrophy= rare cause of childhood obesity associated with
hypothalamic tumor

Others
● Alpha-1 antitrypsin deficiency: in infancy, often see cholestasis, bleeding into the CNS/GI tract/umbilical
stump, elevanted liver enzymes. In kids, get cirrhosis, chronic hepatitis, portal HTN
● Menkes syndrome: Can’t absorb copper. Presents with hypothermia, hypotonia, myoclonic seizures. Chubby
rosy cheeks and kinky friable hair. Severe MR.

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