Pediatrics

Question 1

Infant born with closed fists, overlapping finger, micrognathia, prominent occiput, rocker bottom feet, IUGR

Answer 1

Edwards Syndrome (trisomy 18)

Question 2

2-6 month old pt with loss of motor milestones, hypotonia, cherry red macula, feeding difficulties, hepatosplenomegaly, areflexia

Answer 2

Niemann-Pick disease (sphingomyelinase deficiency)

- supportive tx

Question 3

2-6 month old with loss of motor milestones, hypotonia, feeding difficulties, cherry red macula, hyperreflexia

Answer 3

Tay-Sachs (beta-hexosaminidase A deficiency)

Question 4

Comorbid conditions with tourettes

Answer 4

ADHD and OCD

Question 5

Pt with high fever for 6 days, red lips and eyes, rash on trunk, red and edematous hands and feet

Answer 5

Kawasaki disease

- at risk for coronary artery aneurysm and MI

Question 6

Newborn in respiratory distress with CXR showing hyperinflated lungs with fluid in the interlobar fissures

Answer 6

Transient tachypnea of the newborn

- delayed resorption and clearance of alveolar fluid

Question 7

Anomalies in kids with tracheal and/or esophageal defects

Answer 7

VACTERL (vertebral, anal atresia, cardiac, tracheoesophageal fistula, renal, limb)

Question 8

Child with periorbital edema, mass anterior to left flank, weight loss, rapid, jerking movements of both eyes

Answer 8

Neuroblastoma

Question 9

Newborn with bilious vomiting, no bowel movements and triple bubble sign on abdominal x-ray

Answer 9

jejunal atresia

*double bubble - duodenal atresia

Question 10

newborn with desquamating rash on feet and buttocks, jaundice and clear rhinorrhea

Answer 10

syphilis

Question 11

Child with 2 seizures, regression of speech, wide based gait, rubbing hands together

Answer 11

Rett syndrome

Question 12

baby with vomiting, jaundice, poor weight gain, bilateral cataracts, hepatomegaly

Answer 12

galactose-1-phosphate uridyl transferase deficiency

Question 13

child with reccurent infections, blood in stool, thrombocytopenia, eczema

Answer 13

Wiskott-Aldrich syndrom - x linked (WASP gene)

- impaired cytoskeleton changes in leukocytes and platelets

Question 14

18 month old with recurrent sinus infections, rales and rhonchi in both lunds, PMI displaced to the right side of chest. Brother had similar infections

Answer 14

Kartagener syndrome (subset of primary ciliary dyskinesia)

Question 15

Tx of UTI in child

Answer 15

3rd gen cephalosporin

Question 16

3 year old boy with hx of multiple ear infections, pneumonia, giardia diarrhea, and small tonsils

Answer 16

X-linked agammaglobuinemia - abnormal B lymohicyte maturation

• recurrent sinopulmonary and GI infections
• absence of lymphoid tissue (tonsils, LN)

Question 17

Tx of otitis externa

Answer 17

Topical ciprofloxacin +/- topical glucocorticoid

Question 18

Child with fever and diffuse maculopapular rash that began on face and spread to the body. Before rash patient had cough, eye tearing, runny nose/congestion. Pt from Zambia

Answer 18

Measles

-tx: vitamin A

Question 19

6 year old girl with precocious puberty, 2 large hyperpigmented macules and 2 long bone fractures when she was 4 and 5

Answer 19

McCune Albright

• irregular cafe-au-lait spots
• precocious puberty
• fibrous dysplasia of bone
• mutation in GNAS gene -> overproduction of pituitary hormones

Question 20

Child with biphasic stridor (improves with neck extension) and difficulty feeding

Answer 20

Vascular ring - great vessels encircle & compress trachea

Question 21

Lethargic infant with “sticky” bloody stools. Inconsolablr crying and mild LLQ tenderness.

Answer 21

Intussusception

- do an US guided air contrast enema

Question 22

Hirschsprung disease is associated with which disorder

Answer 22

Down syndrome

Question 23

Benefits of breast milk compared to formula

Answer 23

70% whey and 30& casein protein - whey is more easily digested by infants
Breast milk also contains lactoferrin, lysozyme, and secretory IgA proteins

Question 24

Child with first time seizure, erythematous macular lesion over left forehead and eye that’s been present since birth, right homonymous hemianopia, receptive and expressive language delay

Answer 24

Sturge-Weber Syndrome
- GNAQ gene
- port wine stain (trigeminal VI/VII dist.)
- seizures/hemiparesis
- visual field defecits
- glaucoma
- leptomeningeal capillary-venous malformation
Dx: get MRI of brain

Question 25

Child placed on penicillin for strep pharyngitis develops rash, polyarthralgia, and fever

Answer 25

Serum Sickness Syndrome - type III hypersensitivity (IC formation) - sx 1-2 weeks after starting B-lactam or SMX - can also be due to Hep B

Question 26

Flat blue-grey patches over infants sacrum and buttocks

Answer 26

``` Mongolian spots (congenital dermal melanocytosis) - fades spontaneously ```

Question 27

Child with speech and motor delays. Genes show hypermethylation of FMR1 gene

Answer 27

Fragile X syndrome - speech and motor delays - long face, prominent forehead, protruding ears, marcoorchidism

Question 28

4 month old presents after a seizure. Has hepatomegaly and "doll-like" facies. Lab work shows hypoglycemia and lactic acidosis. Triglycerides and uric acid are also elevated. Patient is <5th percentile for weight

Answer 28

G6PD deficiency - inability to convert glycogen to glucose

Question 29

Child with single enlarged, warm, tender lymph node. Has a temp of 100. Most likely etiology

Answer 29

Staph aureus | - Abx: Clindamycin to cover for MRSA and strep

Question 30

Child has intermittent abdominal pain relieved by drawing his knees up to his chest. Has bloody bowels.

Answer 30

Intussusception | - air enema to tx

Question 31

Tx for baby if mother has chicken pox during labor

Answer 31

administer varicella Ig to infant if maternal infection developed 5 days before or 2 days after delivery

Question 32

Child with recurrent ear infections has persistent draining fluid from the ear. Ear exam shows some scarring of the TM, with peripheral granulation and some skin debris

Answer 32

Cholesteatoma

Question 33

Boy falls with toothbrush in mouth then develops hemiparesis on the right, right hemianesthesia and mild motor aphasia.

Answer 33

Carotid artery dissection

Question 34

2 year old presents for well visit. At age 4 months he was hypotonic. 3 months ago pt started developing involuntary movements of hands and feet, spasticity and dystonia. He also pinches himself and bangs limbs against the wall

Answer 34

Lesch-Nyhan Syndrome - x-linked R - def of hypoxanthine-guanine phosphoribosyltransferase - accumulation of hypoxanthine and uric acid

Question 35

6 year old presents with fever and painful swelling in groin. Pt had 4 previous episodes of cutaneous abscesses and a lung abscess. Pt's cultures from affected lymph node grow aspergillus niger.

Answer 35

Chronic granulomatous disease - x-linked recessive - impaired intracellular killing by phagocytes - pulmonary & cutaneous infections - catalase + pathogens (staph aureus, serratia, burkholderia, aspergillus) - neutrophil function testing: dihydrorhodamine 123 test or nitroblue tetrazolium test

Question 36

Pt who drowned but is resuscitated is at risk for developing

Answer 36

ARDS - water washed out surfactant cerebral edema (>5 min) arrhythmia

Question 37

Tx for croup

Answer 37

mild (no stridor at rest): humidified air and corticosteroids mod/severe (stridor at rest): steroids + nebulized epi

Question 38

13 day old girl with runny nose, cough, fussiness and 100 fever develops wheezes and crackles

Answer 38

RSV/bronchiolitis | - at risk for apnea and respiratory failure

Question 39

Gene defect in osteogenesis imperfecta

Answer 39

COL1A1 - type 1 collagen | - frequent fractures, blue sclera, conductive hearing loss

Question 40

Mutation in duchenne and becker muscular dystrophy

Answer 40

dystrophin

Question 41

Mutation in achondroplasia

Answer 41

fibroblast growth factor receptor 3 (FGFR3)

Question 42

Mutation in fragile X

Answer 42

FMR1

Question 43

Neonate with bilious vomiting and abdominal distension on day 15. NG tube placed for decompression. Abdominal xray shows a gasless abdomen. What to do next

Answer 43

Upper GI series - malrotation | - ligament of trietz will be on right side of abdomen

Question 44

Newborn screening exams after birth

Answer 44

``` newborn screen hyperbilirubinemia hearing screen pre- and post-ductal pulse ox hypoglycemia ```

Question 45

Child with new developed clumsiness. Has new bitemporal hemianopia and diabetes insipidous. Supracellar calcified mass seen on brain imaging

Answer 45

craniopharyngioma

Question 46

Caput succedaneum

Answer 46

in the skin | *CROSSES SUTURES*

Question 47

Cephalohematoma

Answer 47

under the skin | DOES NOT CROSS SUTURES

Question 48

VACTERL

Answer 48

``` Vertebra (xray sacrum) Anus (xray) Cardiac (echo) TE fistula (xray with coiled tube) Esophageal atresia Renal (VCUG) Limb (xray wrist) ```

Question 49

Long term complication of vesicoureteral reflux in children

Answer 49

renal scar formation

Question 50

Recurrent respiratory and GI infections in a young adult. What's the underlying etiology

Answer 50

common variable immunodeficiency - really low IgG and low IgA and IgM - no response to vaccination - need Ig replacement therapy

Question 51

16 year old presents with splenomegaly, hepatomegaly, anemia, thrombocytopenia, bone pain, delayed puberty

Answer 51

Gaucher disease - glucocerebrosidase def -- accumulates in macrophages of bone, liver, spleen - lysosomal storage disease

Question 52

2 year old with chronic oligoarthritis, fever and rash

Answer 52

systemic juvenile idiopathic arthritis

Question 53

Unconjugated hyperbilirubinemia and dehydration in the first week of life

Answer 53

Breast feeding jaundice | - breast milk jaundice persists after the first week

Question 54

CD 19+ | CD 3+

Answer 54

B cells | T cells

Question 55

Normal development until 6-18 months, then regression of speech, loss of purposeful hand movements, development of stereotypical movements (pill-rolling, twisting, kneading), gait abnormalities and breathing abnormalities

Answer 55

rett syndrome

Question 56

Potter sequence

Answer 56

oligohydraminos --> pulmonary hypoplasia, flat facies, limb deformities

Question 57

Newborn with no prenatal care has protruding tongue, decreased activity, hypotonia, umbilical hernia

Answer 57

congenital hypothyroidism | - untreated leads to intellectual disability

Question 58

Salter Harris Classification

Answer 58

Type I fracture through the physeal plate (often not detected radiographically) Type II fracture through the metaphysis and physis (most common; up to 75% of all physeal fractures) Type III fracture through the epiphysis and physis Type IV fracture through the metaphysis, physis and epiphysis Type V crush injury involving part or all of the physis

Question 59

congenital brain malformation with an absent or dysplastic cerebellar vermis and cystic dilation of the fourth ventricle

Answer 59

Dandy Walker malformation

Question 60

WAGR syndrome

Answer 60

Wilms tumor Aniridia GU abnormalities Retardation

Question 61

bulging, blue dome-shaped, translucent membrane at the level of the vaginal introitus

Answer 61

imperforate hymen | - dx: pelvic US

Question 62

Most appropriate initial tx for tetralogy of fallot

Answer 62

knee to chest

Question 63

Cause of edema in turner syndrome baby

Answer 63

congenital lymphedema | - lymphatic network dysgenesis

Question 64

5 year old girl with marfanoid habitus, fair skin and eyes, and CVA (sudden weakness, +babinski and brisk DTRs

Answer 64

Homocystinuria - pts have elevated homocysteine and methionine - tx with B6, folate, B12

Question 65

newborn male with poor urine output, diminished lung volumes bilaterally

Answer 65

Posterior urethral valves - oligohydraminos in utero leads to lung hypoplasia - renal and bladder US

Question 66

pilocytic astrocytoma

Answer 66

most common brain tumor in kids - usually in cerebellar hemispheres - causes fine motor and coordination deficits - hydrocephalus

Question 67

Adopted baby drinking donated breast milk with swollen wrists and skull bones are soft and flexible to pressure

Answer 67

Rickets | - need vitamin D supplementation with breast milk

Question 68

Deep impression of the posterior esophagus at the level of T4 in a 2 year old.

Answer 68

Vascular ring (malformation of aortic arch)