PEDIATRICS NOTES

Legal issues: When only one parent consents and the other doesnt, can still move forward with treatment. Dont need
parental consent or court order for urgent treatment (e.g., tetanus vaccine after exposure) but do need court order for nonurgent but lifesaving treatment (chemo)
Physical Exam

HEENT:
Caput succedaneum: Edema, not blood, that can cross suture lines. Its 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 20s 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). Babys 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: Dont 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.
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 doesnt 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,
wont 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: Cant 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: cant 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
cant convert to glucose 1P. Jaundice, emesis, listlessness. Increased risk of e coli sepsis. Treat with
avoiding lactose (no cows milk or breast milk) cataracts will regress!
Galactokinase deficiency: Mild galactosemia,cant 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.

2.
3.
4.
5.
6.

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. Cant 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
Hg or Hct: recommended for high risk infants (preemies, low birth weight), at 9-12 months of age, and yearly on
menstruating adolescents
Urinalyses: recommended 9-12 months of age and at 5 years. If sexually active, annual dipstick for WBCs
Lead: 9-12 months, esp. in high risk areas. Again at 2 years.
Cholesterol: positive family history screen older than 2 years
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 - its 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, dont necessarily need to do an exhaustive workup

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.
c.
4.
a.
b.

Malabsorption - GI disease (biliary atresia, celiac disease), inflammatory bowel disease, infections, toxins
Renal losses - diabetes, renal tubular acidosis
Increased caloric requirements
Increased metabolism - congenital heart disease, chronic respiratory disease, cancer, chronic infection, hyperthyroidism
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
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 Ps: 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 drugs 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.

1.
2.
3.
4.
5.
6.

Drug screening: Attempt to get the adolescents permission and maintain confidentiality!
Alcohol - 7-10 hours in blood, 10-13 in urine
Marijuana - 3-10 days in urine for occasional use, up to 2 months for chronic use
Cocaine - 2-4 days in urine
Meth, ecstasy, opiates - 2 days in urine
PCP - 8 days in urine
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 (Potters 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
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 Alzheimers (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
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 cant
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 = Jobs syndrome: High IgE, eosinophilia, coarse facial features, chronic itchy dermatitis, recurrent staph
infections in skin and lungs
Brutons 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 Brutons but have less severe symptoms at a later age (15-35 yrs).
Might have decreased antibody levels but no decrease in B cells
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. Cant make H2O2. Get
infections with catalase positive bugs (staph, serratia, klebsiella, aspergillus). Neutrophils full of bacteria is a
classic finding - can phagocytose, but cant 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.

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

Goats milk diet

Goats 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 - dont 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
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. Cant 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 - cant 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 doesnt 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
Dont 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
Vitamin A

Use
Antioxidant, part of retinal
pigments, necessary for
differentiation of epithelial
cells into specialized tissues,
prevents squamous
metaplasia.

Deficiency

Excess

Night blindness, xerophthalmia

(dont 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)

Dry Beri Beri = neuritis, muscle

wasting

Used to treat Measles and

AML, type 3
Vitamin B1
(thiamine)

In TPP, a cofactor for

dehydrogenase reactions in
TCA cycle, HMP shunt,
branched chain ketoacid
dehydrogenase

Wet Beri Beri = high output

cardiac failure from dilated
cardiomyopathy, heart failure
Wernicke Korsakoff in adults

Vitamin B2
(riboflavin)

Part of FAD and FMN,

cofactor for redox reactions
(like succinate
dehydrogenase in TCC)

Cheilosis, ocular problems

(keratitis, conjunctivitis), corneal
vascularization, seborrheic
dermatitis, poor growth,
photophobia, normocytic
normochromic anemia

Vitamin B3
(niacin)

Part of NAD, NADP. Made

from tryptophan.

Pellagra = dermatitis, dementia,

diarrhea

Facial flushing (prostaglandins),

pruritis, hyperglycemia and
hyperuricemia

Vitamin B5
(pantothenic
acid)

Part of CoA, a cofactor for

acyl transfers, and fatty acid
transfers

Dermatitis, enteritis/abdominal
pain, alopecia, adrenal
insufficiency depression,
hypotension. Muscle
weakness.

Vitamin B6
(pyridoxine)

Converted to pyridoxal
phosphate, a cofactor used in
transamination (ALT, AST),
decarboxylation, glycogen
phosphorylase. Used in
making heme, cystathione,
niacin, histamine,
neurotransmitters

Irritability, convulsions,
sideroblastic anemia due to
impaired hemoglobin synthesis
and iron excess

Sensory neuropathy

Cofactor for carboxylation

enzymes

Can be caused by antibiotics or

eating too many raw egg whites
(avidin binds biotin)

Vitamin B7
(biotin)

In older patients (e.g., iisoniazid),

periopheral neuropathy
?

Dermatitis, alopecia, enteritis,

anorexia, muscle pain. Relatively
rare.
Can have biotinase deficiency
cant make free biotin. Get
skin problems, neuro

10

problems, immune deficiency,

and metabolic acidosis.
Vitamin B9
(folic acid)

Vitamin B12
(cobalamin)

Converted to THF, a
coenzyme for methylation
rxns. Important for making
nitrogenous bases for DNA
and RNA

Macrocytic, megaloblastic anemia,

hypersegmented PMNs, glossitis.

Cofactor for homocysteine

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.

Labs: increased homocysteine,

normal methylmalonic acid. Most
common vitamin deficiency!Seen
in pregnancy, alcoholism,
phenytoin, sulfonamides,
methotrexate.

Extremely high levels

stomach problems, seizure,
sleep disturbance, skin
reactions

Have increased homocysteine

AND increased methylmalonic acid
Vitamin C
(ascorbic
acid)

Antioxidant, facilitates iron

absorption (reduces to Fe+2),
needed for hydroxylation of
proline and lysine in collagen
production, needed to convert
dopamine to NE

Scurvy - swollen gums, brusing,

hemarthrosis, anemia, poor wound
healing, perifollicular and
subperiosteal hemorrhages,
corkscrew hair.

Predisposition to kidney stones

Weak immune response

Ancillary treatment for
methemeoglobinemia!
Calcium

Needed for mineralization of

bone and tooth enamel.

Calcium rickets angular

bowing of the legs, myopathy,
rachitic rosary, pectus
deformities, tetany, tooth enamel
defects

Vitamin D

D2 = ergocalciferol is from
plants

Rickets (elevated serum alkaline

phosphatase levels come first),
osteomalacia, infantile tetany
(hypocalcemia?)

Hypercalcemia, azotemia, poor

growth, nausea and vomiting
(calcium?), calcinosis of many
tissues.

Risk in conditions that impair

absorption of fat soluble vitamins
(liver failure, biliary atresia, CF).

Excess is seen in sarcoidosis

(increased activation of vitamin D
by epitheliod macrophages)

D3 = cholecalciferon is in
milk and formed in skin
via cholesterol 7-deOHcholesterol D3. Last
step requires sunlight!
25-OH D3 = storage form,
hydroxylated in the liver.
Defective production in
autosomal recessive Vitamin
D-dependent calcium
deficiency, type 1.

Risk in renal failure (kidneys have

1-alpha-hydroxylase), and Familial
Primary Hypophasphatemia (x
linked dominant) - defect in
reabsorbing phosphate and 1hydroxylation of 25-OH-D3.

1-25-OH-D3 = calcitriol =
active form, converted in
kidney proximal tubules by 1-

Dx by measuring serum 25-OHD3, calcium, phosphorus, and

alkaline phosphatase levels. Xrays
show poor bone mineralization

11

alpha-hydroxylase. Defective
in familial primary
hypophosphatemia.
Increases intestinal
absorption of calcium and
phosphate, increases bone
mineralization
Iron

Necessary for heme

production

Iron deficiency anemia (microcytic,

hypochromic, RDW > 20% as
opposed to 12-14% with
thalassemias)
Risk if the infant didnt get
supplementation while
breastfeeding. Milk is also low in
iron.

Vitamin E

Vitamin K

Protects RBCs and

membranes from free radicals
(E for Erythrocytes)

Hemolytic anemia in preemies

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

Hemorrhage with increased PT

and PTT but normal bleeding time.

Degeneration of dorsal colums and

spinocerebellar tracts - can look
like B12 deficiency but no
megaloblastic anemia,
hypersegmented neutrophils, or
increased methylmalonic acid
levels
Water soluble forms can cause
hyperbilirubinemia

Babies have to get a vitamin K

shot at birth. They have sterile
intestines and cant make vitamin
K. Its not in breast milk, either!
Can also have deficiency after
prolonged use of broad spectrum
antibiotics.

12

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, assoced 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.
a.
b.
c.
i.
d.
2.
a.
b.
i.
c.
d.
e.
i.

Prophylaxis and treatment

Start penicillin by 2 months, folate by 6 months
Get baseline and periodic CBC and reticulocyte measurement screenings beginning around 2 months.
Special vaccinations at 2 years: meningococcal and 23 valent polysaccharide pneumococcal vaccine.
Kids receive the conjugate pneumococcal vaccine as a routine matter at 2,4, and 6 months of age.
Hydroxyurea can increase the production of fetal hemoglobin
Risks:
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
Pain crises: can treat with morphine, hydromorphone. May need to admit.
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
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
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!
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.
Do transcranial Doppler ultrasound at well child visits to identify kids with increased flow velocity in the large cerebral
vessels

13

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 YAs. 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.
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

14

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 dont need ICU - give IV abx
Flouroquinolone (levofloxacin, moxifloxacin)
Beta lactam + macrolide
HA pneumonia requires broader abx - dont 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, 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
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 ided 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:

15

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, assoced with complications like prolonged rupture of membranes and
chorioamnionitis. Late onset is due to environmental exposures.
Use ampicillin + gentamicin or cefotaxime. Chlamydia pneumonia doesnt 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
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 cows 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 moms immune status - antibodies across the
placenta wont 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

16

Case 11: Organophosphate Poisoning

Organophosphate poisoning is the leading cause of non-medicine ingestion fatality in kids. OPs are found
in pesticides - they irreversibly bind to cholinesterase in neurons, RBCs, and the liver cant 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 dont 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
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.
Dont induce vomiting, can cause more aspiration!
Drain cleaner: Do endoscopy in 12-24 hours to check extent of mucosal damage. Dont 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. Doesnt 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

17

Allergic Proctocolitis:
Allergy to protein in cows 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 moms nipple blood in
stool. Apt-Downey test distinguishes fetal blood from maternal blood - should be first test when a baby has
hematemasis or meconium
Hemorrhagic disease of the newborn: Risk in babies that dont 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 doesnt work within 3 days, can broaden abx coverage (augmentin, etc). If several abx dont 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 doesnt 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

18

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 swimmers ear = caused by psuedomonas, staph aureus, sometimes fungus (candida, aspergillus)
Case 14: Neonatal Resuscitation

1.
2.
3.
4.
5.

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.
Appearance/Color: 0 if blue and pale, 1 if body is pink but extremities are blue (acrocyanosis), 2 if completely pink
Pulse/HR: 0 if absent, 1 if < 100 bpm, 2 if > 100 bpm
Grimace/Reflex: (response to catheter in nose): 0 if no response, 1 if grimace, 2 if cough or sneeze
Activity/Tone: 0 if limp, 1 if some flexion of extremities, 2 if flexion and active motion
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.
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

19

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%
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 cant 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 havent 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

20

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
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

1.
2.
3.
4.

Treatment:
Induce remission with prednisone, vincristine, and asparaginase
CNS intrathecal therapy: reduces CNS relapse from 50% to 3-6%
Consolidation and intensification to further target residual cancer cells - give multiple chemotherapies in a short period
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 arent contraindicated, but they wont 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 antiD 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

21

Case 18: Infant of Diabetic Mom

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

Maternal hyperglycemia fetal hyperinsulinemia fetal macrosomia (weight > 90%), but normal
height and head circumference because insulin doesnt 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.

22

b.
i.
ii.
iii.
iv.
v.

Risk factors =
Maternal diabetes, polycythemia, cephalohematoma/bruising/swallowed maternal blood,
Prematurity, male, Asian,
Down syndrome, delayed bowel movement or upper GI obstruction,
Hypothyroid,
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 cant digest galactose in cows 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.
Gilberts 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
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 arent enough

23

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.
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 childs 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.

24

Familial short stature - bone age = chronologic age, indicating no extra growth potential
Predict boys final height = (fathers height + moms height +13 cm or 5 in)/2.
Predict girls 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 moms 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.
Mortality from early onset is 30%.

Sepsis > 1 week = late onset sepsis: Sepsis after 7 days. Usually from caregivers 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:

25

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 doesnt 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
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

26

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 CIed) 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

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

1.
2.
3.
4.

Antibiotic prophylaxis (e.g., dental procedures)

Previous hx of endocarditis
Prosthetic valve or material for repair
Heart transplant
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.

27

1.
2.
3.
4.

Benign murmurs
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)
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.
Venous hum: low pitched murmur heard at the sternal notch or under the clavicle only when the kid is upright
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
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

28

Often manifests after the PDA closes (ductus dependent lesion), can keep it open with PGE
Can diagnose RL 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
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.
a.
b.
c.

Tetralogy of Fallot
Pulmonary stenosis, large VSD, overriding aorta, right ventricular hypertrophy
Boot shaped heart with decreased pulmonary vascularity
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

29

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
doesnt parallel the arthritis activity.

Diagnosis
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: Cant see (conjunctivitis), cant pee (urethritis), cant 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 syndenhams
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 syndenhams 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 wont do that in JIA. Also, JIA cant be diagnosed until the arthritis has been there for > 6
weeks

30

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.

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: Cant 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 cant absorb B12. Treat with praziquantel.
Goats 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 doesnt 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.

31

1.
a.
2.
3.
4.

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
< 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:
Mercury neuro symptoms = ataxia, tremors, dysarthria, memory loss, altered sensorium (vision, hearing,
smell, taste), dementia and death.
In utero exposure low birth weight, microcephaly, seizures
Arsenic acute exposure causes severe GI symptoms, chronic causes skin lesions and neuropathy/encephalopathy
Alcohol hypoglycemia
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 arent 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 dont 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
Goodpastures Syndrome: nephritis + pulmonary hemorrhage
Alport syndrome: genetic defect in collagen synthesis abnormal BM formation. Hematuria, proteinuria,
renal failure by 20s or 30s. 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

32

Tanner Staging
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, its 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:
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

33

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, cant 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, wont have the
abnormal virilization cue for diagnosis - symptoms can mimic pyloric stenosis, intestinal obstruction, heart
disease, cows 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
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

34

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 arent
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). Wont
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 CIed, 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.
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 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!

35

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 isnt treated with antibiotics! Can increase the risk of HUS!
Nontyphoid: gastroenteritis, meningitis, osteomyelitis, bacteremia
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 doesnt cause fever
2. Vibrio cholera: vomiting and profuse watery diarrhea
3. C diff: 50% of infants are colonized with it, but treat only if its causing symptoms - rare except after abx. Dont 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

36

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 isnt helpful unless
actively bleeding
Other causes of bloody diarrhea
Meckels
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 hasnt perforated. If it has perforated, then give IV abx, drain the abscess
percutaneously, and then do an appendectomy at a later time.
If dont get better after surgery - get a CT scan! Risk of abscess.
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 isnt useful - doesnt affect outcomes. Only give steroids if
concerned about airway

37

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 dont return to the intestine stool does not contain ova or parasites.
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

38

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 dont 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

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
doesnt, 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

39

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 5060% chance of having more. Older kids have a 20-30% chance of recurrence.
Risk increases with family history of febrile seizure (10-20%).

1.
2.
3.
4.

Get an LP if: Do CT before MRI if space occupying lesion is suspected (e.g., abscess) - dont give abx before
unless patient cant tolerate the LP without them
Neuro exam is abnormal after seizure
Seizure occurred several days into illness (maybe after fever had already come on)
Kid cant provide adequate feedback about neck exam
Kid is younger than 1 yr meningeal signs (Kernig and Brudzinski) arent 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)
In babies < 1 year, get an LP
Prolonged seizures: If seizure lasts longer than 5 minutes, treat with lorazepam or diazepam. If dont 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 wont stimulate.
Case 42: Musculodystrophy

1.

2.
a.
3.

Duchennes MD: 1 in 3300 males, X- linked recessive frameshift or deletion mutation that deletes the
dystrophin protein muscle breakdown. 30% are new mutations.
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.
Diagnosis: Screen with creatine kinase. Confirm with DNA analysis - diagnoses of cases. If non-conclusive, then do
muscle biopsy. Electromyogram will just show non-specific myopathy.
80% of female carriers have elevated CK
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

40

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. Dont 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 - DONT
RELY ON TZANCK SMEAR
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. 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 arent 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)

41

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

1.
a.
2.
3.
4.
5.
6.

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:
Staph aureus or strep pyogenes: acute onset, associated with cellulitis or suppuration, treat with drainage and
clindamycin.
Note: bactrim is good against MRSA but not good against group A strep
Anaerobes: older kids with dental problems, treat with clindamycin or ampicillin
Non-TB mycobacteria: preschool kids with no systemic symptoms, slow onset, not painful. Excise and macrolide +/rifampin
TB: systemic symptoms, exposure history, positive PPD. Treat for TB
Bartonella henselae: slower onset, tender but mild cellulitis, exposure to cats. Dont need to treat!
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. Its 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 Parinauds syndrome and Colliers sign
Parinauds: paralysis of vertical gaze, pupil disturbance from involvement of the superior colliculus and CN3
Colliers 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

42

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.
Infantile fibrosarcoma: malignant congenital malformation that is easily mistaken for an infantile hemangioma - suspect
this if the hemangioma doesnt 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

43

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
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 its 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.
CXR shows a reticulonodular ground glass pattern with air bronchograms and decreased aeration of the lungs

44

Treatment: Give supplemental O2 via continuous positive airway pressure, fluids, NG feeds (degree of tachypnea usually
means baby cant 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 birds 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. have chromosomal abnormalities (e.g.,
downs).
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).

45

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 dont 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 patients fever wont 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 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

46

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.

2.

3.

Nephrogenic diabetes insipidus: Kidney doesnt 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
Renal Tubular Acidosis: SEE UW 4828
Type 1: Distal, ph > 5.5: alpha intercalated cells normally absorb K+ and secrete H+, but they dont work
here acidosis and hypokalemia. Positive anion gap.
Type 2: Proximal, pH < 5.5: Defect in PCT reabsorption of HCO3- acidosis. Assoced 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.
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 (dont 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
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.

47

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 - cant 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.
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.
Jumpers 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.

48

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, its 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.
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 cant convert galactose 1P to glucose 1P must stop breastfeeding and switch to soy or casein
hydrolysate infant formula), full opthy exam and ocular ultrasound.

49

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; its 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 (doesnt 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
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 ICed, 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)

50

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
2. Any systemic signs of illness? If yes maybe HUS, DIC. If no ITP
HUS: nephropathy, thrombocytopenia, and microangiopathic hemolytic anemia. Assoced 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.

51

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. Cant 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
Nursemaids elbow: Kid holds the elbow flexed and the forearm pronated - treatment is to supinate the forearm while
applying pressure over the radial head.
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, postobstructive pneumonia, localized bronchiectasis (late feature)

52

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 wont 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
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 assoced 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 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

53

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 assoced 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
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 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.

54

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
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

55

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 babys 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 (Horners 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

56

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
(AR)
Onset: 1 year to early adulthood
Symptoms: dementia, ataxia,
peripheral muscle wasting
Signs: Central and peripheral
demyelination
Enzyme: Sulfatase A = cerebroside
deamidase
Build up: cerebroside sulfate

Fabry Disease (X-linked rec)

Onset:
Symptoms:burning painful hands and
feet from neuropathy,
angiokeratomas, cardiac and renal
disease,
Signs:
Enzyme: alpha galactosidase aka
trihexosidase
Build up: ceramide trihexose =
globoside
Treatment: replace enzyme!
Move left

Move right
Krabbe Disease (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

Gaucher Disease (AR)

Onset:
Symptoms: Most common form is
adult type 1 and doesnt 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

Neiman Pick (AR)

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 wont prevent liver disease. : (

Mucopolysaccharides
1. Hunter syndrome - mild Hurler symptoms, aggression, no corneal clouding

57

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 Gierkes = Glycogen storage disease type 1: Cant 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 cant 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: Cant absorb copper. Presents with hypothermia, hypotonia, myoclonic seizures. Chubby rosy
cheeks and kinky friable hair. Severe MR.

58