Pediatrics

Question 1

Gaucher’s disease deficiency

Answer 1

Glucocerebrosidase

Question 2

Mucopolysaccharidoses (2)

Answer 2

Hurler, Hunter

Question 3

Hurler syndrome deficiency

Answer 3

Alpha-L-iouronidase

Question 4

Alder-Reilly granules

Answer 4

In WBCs in Hurler syndrome

Question 5

Pompe dz deficiency

Answer 5

Glucosidase (acid maltase)

Question 6

Cystic fibrosis gene and chromosome

Answer 6

CFTR

Chromosome 7q

Question 7

Common bacteria in CF

Answer 7

S. aureus
Pseudomonas aeruginosa
Burkholderia cepacia

Question 8

PKU deficiency

Answer 8

Phenylalanine hydroxylase

Question 9

Cyanotic heart defects

Answer 9

Truncus arteriosus
Transposition of the great arteries
Tricuspid atresia
Tetraolgy of Fallot
Total anomalous pulmonary venous return

Question 10

Tetraolgy of Fallot

Answer 10

Pulmonary stenosis
Overriding aorta
Ventricular septal defect
R. ventricular hypertrophy

Question 11

Beckwith-Weidemann syndrome features

Answer 11

Macrosomia, large tongue, omphalocele

11p duplication

Question 12

Beckwith-Weidemann syndrome associated tumors

Answer 12

Wilms tumor
Hepatoblastoma
Nesidioblastosis
Adrenal cytomegaly

Question 13

Syndromes assd with Wilms

Answer 13

WAGR
Denys-Drash
Beckwith-Weidemann

Question 14

Tay-Sachs deficiency

Answer 14

Hexosaminidase A

Question 15

Gene assd with Hirschsprung

Answer 15

RET gene

Question 16

Neuroblastoma genetics

Answer 16

N-myc amplification

Question 17

Embryonal rhabdomyosarcoma genetics

Answer 17

11p loss

Question 18

Ewing/PNET genetics

Answer 18

t(11;22)

EWS-FLI1

Question 19

Translocation in congenital mesoblastic nephroma and juvenile fibrosarcoma

Answer 19

t(12;15)

ETV-NTRK3

Question 20

Rb gene location

Answer 20

13q

Question 21

DSRCT translocation

Answer 21

t(11;22)

EWS-WT1

Question 22

Cerebellar lesions in children

Answer 22

Pilocytic astrocytoma
Medulloblastoma
Ependymoma

Question 23

Syndromes associated with hepatoblastoma

Answer 23

Beckwith-Weidemann syndrome

Familial adenomatous polyposis

Question 24

Also called “bone-metastasizing tumor”

Answer 24

Clear cell sarcoma of kidney

Question 25

Lesch-Nyhan syndrome defect

Answer 25

hypoxanthine guanine phosphoribosyl transferase
accumulation of purines
“orange sand” uric acid crystals in diaper

Question 26

Niemann-Pick disease deficiency

Answer 26

sphingomyelinase

Question 27

Von Gierke’s dz deficiency

Answer 27

glucose-6-phosphatase

Question 28

Congenital pulmonary airway malformation associated with severe anomalies (renal agenesis)

Answer 28

CPAM type 2 - poor prognosis
Small cysts, dilated bronchioles
blends with normal lung

Question 29

Most common CPAM type

Answer 29

CPAM type 1 - good prognosis

Large cysts, cartilage, mucous cells

Question 29

DiGeorge genetics

Answer 29

22q11 microdeletion

Question 30

Syndrome at risk for transfusion assd GVHD

Answer 30

DiGeorge

Question 31

Worlds most common cause of hydrops fetalis

Answer 31

Thalassemia

Question 32

Infectious causes of hydrops fetalis (3)

Answer 32

Syphilis
CMV
ParvoB19

Question 33

Level of unconjugated bilirubinemia that can cause kernicterus in preemie

Answer 33

12mg/dL

Question 34

WAGR syndrome

Answer 34

Wilms
Aniridia
Genital abnormalities
Retardation
11p13 del

Question 35

Denys-Drash syndrome

Answer 35

Wilms
Gonadal dysgenesis
Mesangial sclerosis
11p13 del

Question 36

Elevated in neuroblastoma

Answer 36

Urine VMA
HVA
Serum ferritin
NSE

Question 37

Extralobar sequestration of lung

Answer 37

congenital
connected to systemic vasculature (not rest of lung)
may look like normal lung

Question 38

Intralobar sequestration of lung

Answer 38

acquired

ciliated epithelium, cartilage, goblet cells

Question 39

CPAM type that looks like pleuropulmonary blastoma

Answer 39

CPAM type 4