high-yield peds review

Question 1

12 y/o F w/ 2 wk history of daily fevers to 102 and a salmon colored evanescent rash on her trunk, thighs and shoulders. Her left knee and right knee are swollen

Answer 1

Juvenile Rheumatoid Arthritis (better with ANA, worse with RF)

Question 2

14yo male, enlarged/painless/rubbery nodes, drenching fevers, 10% weight loss

Answer 2

Hodgkin Lymphoma

Question 3

15yo female, recurrent epistaxis, heavy menses, petechiae, decr. plts only

Answer 3

ITP

Question 4

15yo female, recurrent epistaxis, heavy menses, petechiae, normal plts, incr. bleeding time and PTT

Answer 4

von Willenbrand’s disease

Question 5

15yo with occasional palpitations, angina and dizziness, fainting spells, syst. ejec. murmur

Answer 5

HOCM

Question 6

18mo baby, low plts, low WBCs, profound anemia, cafe-au-lait spots, microcephaly, absent thumbs

Answer 6

Fanconi syndrome

Question 7

1wk old newborn, bleeding from umbilical stump, bleeding diathesis

Answer 7

Vitamin K deficiency

Question 8

2wko with bilious vomiting, pregnancy complicated by polyhydramnios, Down syndrome

Answer 8

Intestinal atresia

Question 9

2yo with gait disturbance, loss of intellectual fxn, nystagmus, optic atrophy

Answer 9

Metachromatic leukodystrophy,

Question 10

3 year old girl w/ a limp & left leg pain, T = 99.9, HSM, petechiae, & pallor. Cells are CALLA and TdT +

Answer 10

ALL

Question 11

3mo in frog-leg position, FTT, hypotonic, absent DTRs, fasciculations of tongue

Answer 11

SMA-1 Werdnig-Hoffman disease

Question 12

3yo male, recurrent swollen/infected lymph nodes in groin and staph aureus skin abscesses

Answer 12

Chronic granulomatous disease

Question 13

4mo baby, normal plts/WBCs, severe anemia, low retics, triphalangeal thumbs

Answer 13

Diamond-Blackfan Anemia

Question 14

5mo, MR, vomiting, seizures, athetosis, seizures (fair hair/eyes/skin, musty-odored urine)

Answer 14

Phenylketonuria

Question 15

6yo with clumsiness/frequent falls, decreased leg muscle bulk, multiple small injuries on hands and feet

Answer 15

Marie-Charcot-Tooth Disease

Question 16

7yo girl with non-productive cough, large anterior mediastinal mass

Answer 16

Non-Hodgkin Lymphoma

Question 17

7yo male, recurrent bruising, hematuria, hemarthroses, incr. PTT

Answer 17

Hemophilia

Question 18

7yo with vague chest pain, poly joint pain, rash, incr. ESR, prolonged PR interval

Answer 18

Acute rheumatic fever

Question 19

8yo with imbalance while walking, no DTRs, bilateral Babinski and dysarthric speech

Answer 19

Freidrich ataxia

Question 20

9yo female with new onset of decreased Factor VII (increased PT), then other factors decr. (except VII and vWF)

Answer 20

Fulminant liver (Wilson’s disease)

Question 21

9yo starts to lag in development, seizures, hypotonia, cherry red macula

Answer 21

Tay-Sachs (def. in hexosaminidase A)

Question 22

Adolescent with height in 5th %, w/ bitemporal hemianopsia. See calcifications in sella turcica

Answer 22

Craniopharyngioma

Question 23

Autosomal dominant, advanced paternal age, short palpebral fissues, white forelock, deafness

Answer 23

Waardenburg syndrome

Question 24

Bipolar woman who gives birth to a child with holosystolic murmur worse on inspiration

Answer 24

Ebstein anomaly

Question 25

Bowed legs, beaking of proximal tibial epiphysis

Answer 25

Blount disease

Question 26

Child presents w/ “muffled voice”, stridor and refuses to turn her head to the left

Answer 26

Retropharyngeal abscess

Question 27

Child presents with “hot-potato” voice, upon throat exam her uvula is deviated to the right due to a bulge

Answer 27

Peri-tonsillar abscess

Question 28

Flank pain radiating to groin, hematuria, setting of foley or leukemia

Answer 28

Kidney stones

Question 29

Hematuria, deafness, collagen IV genetic defect

Answer 29

Alport Syndrome

Question 30

Hematuria, hemoptysis, Abs to collagen IV

Answer 30

Goodpasture’s Syndrome

Question 31

Infant with increasing head size, prominent occiput, cerebellar ataxia and delayed motor development

Answer 31

Dandy-Walker malformation

Question 32

Infant with MR, direct hyperbili/jaundice, low glucose, cataracts, seizures

Answer 32

Galactosemia

Question 33

Maculo-papular rash spreads from chest to neck/extremities, strawberry tongue, prior hx of sore throat

Answer 33

Scarlet fever (GABHS)

Question 34

Mandibular hypoplasia, glossoptosis, cleft soft palate, seen with FAS or Trisomy 18

Answer 34

Pierre Rubin Sequence

Question 35

Most common type of MR in boys, macrocephaly, macro-orchidism, large ears

Answer 35

Fragile X (CGG repeats on X chromosome)

Question 36

New onset seizure, ataxia and HA worse in the AM with vomiting for a month

Answer 36

Benign astrocytoma

Question 37

Newborn, male, no palpable testes, no ab muscles, urinary tract abnormalities

Answer 37

Prune belly syndrome

Question 38

Older child with exercise intolerance, loud S1 with fixed and split S2, sometimes assoc. w/ Edwards

Answer 38

ASD

Question 39

Proteinuria, edema, hyperlipidemia, sudden development of flank pain

Answer 39

Renal vein thrombosis

Question 40

Sepsis in sickle patient

Answer 40

Strep pneumo

Question 41

Sore throat, joint pain, fever, pinpoint rash of face and spreads down. rose spots on palate

Answer 41

Rubella