Congenital

Question 1

(Triad)
Sensorineural hearing loss
Cardiac defects (PDA)
Cataracts

Answer 1

Congenital Rubella virus

Question 2

Hepatomegaly, nasal discharge (snuffles), osteoarticular destruction, maculopapular rash

Answer 2

Congenital syphilis

Question 3

Chorioretinitis
Hydrocephalus
Diffuse intracranial calcifications

Answer 3

Congenital toxo

Question 4

Chorioretinitis

PeriVVVVVVentricular calcifications

Answer 4

Congenital CMVVVVVV

Question 5

Successive crops of vesicles (in diff stages)

Answer 5

Varicella

Question 6

Hand foot mouth itchy or not?

Answer 6

No (unlike chicken pox)

Question 7

Bilious vomiting in neonate

Dilated loops of bowel

Answer 7

Microcolon -> meconium ileus

Rectosigmoid transition zone -> Hirschsprung

Question 8

NG tube misplaced in duodenum

Answer 8

Get upper GI series - > shows ligament of Treitz on R side of abdomen = malrotation

Question 9

Double bubble

Answer 9

Duodenal atresia

Question 10

Defect in hepatic secretion of conjugated bili into biliary system

Answer 10

Rotor

Dubin-Johnson

Question 11

Defect in conjugation of bili

Answer 11

Gilbert

Crigler-Najjar

Question 12

Niemann Pick vs Tay Sachs

Answer 12

Both have cherry red macula, hypotonia, feeding difficulties.

Niemann Pick: hepatosplenomegaly, areflexia
Tay-Sachs: HYPERreflexia

Question 13

IUGR
Closed fists with overlapping fingers!!
Micrognathia, prominent occuput, rocker-bottom feet

Answer 13

Trisomy 18

Question 14

Cat-like cry

Hypotonia, short stature, hypotelorism

Answer 14

Cri du chat

Question 15

Cutis aplasia (lack of epidermis over skull)
Microphthalmia
Holoprosencephaly, omphalocele

Answer 15

Trisomy 13

Question 16

contraindications to rotavirus vaccine

Answer 16

hx of intussusception, uncorrected congenital malformation of GI tract (eg meckels), SCID

Question 17

Barky cough

tx?

Answer 17

Croup (paraflu)

Stridor at rest (mod-severe): corticosteroids + nebulized (racemic) epi

Question 18

Recurrent sinopulmonary infections
No lymphoid tissue
Low serum Ig concentrations

Answer 18

Bruton agammaglobulinemia (X-linked) 
-> low B cell concentration

Question 19

severe infections due to catalase-positive bacterial (staph aureus, serratia) and fungal (aspergillus) organisms

Answer 19

chronic granulomatous disease

-> impaired phagocytosis

Question 20

Kawasaki

Answer 20

Conjunctivitis
Rash (polymorphous)
Adenopathy
Strawberry tongue
Hand and feet involvement

Question 21

Tiny white round lesions on conjunctiva and buccal mucosa

Treatment?

Answer 21

Koplik spots (measles)
cough, coryza, conjunctivitis

Tx: vitamin A for severe cases

Question 22

Non-pruritic macular rash starts on distal extremities (palms/soles) and spreads centripetally

Answer 22

RMSF

Question 23

Rash spreads cephalocaudally

Answer 23

Rubella

Question 24

Blanching, sandpaper-like, erythematous rash

Answer 24

Scarlet fever

Question 25

Macrocytic pure RBC aplasia

with short stature, webbed neck, cleft lip, shielded chest, triphalangeal thumb

Answer 25

Diamond blackfan

Question 26

Triad:
Eczema
Thrombocytopenia
hypogammaglobulinemia

Answer 26

Wiskott Aldrich

Question 27

pure red cell aplasia (no macrocytosis)

No congenital anomalies

Answer 27

Transient erythroblastopenia of childhood

Question 28

Progressive pancytopenia, macrocytosis
Avg age of diagnosis is 8yo
Cafe au lait spots, microcephaly, microphthalmia, short stature, horseshoe kidney, absent thumb

Answer 28

Fanconi anemia