peds105

Question 1

niemann pick disease

Answer 1

sphingolipidosiss due to def in sphingomyelinase; sphingomyelin accumulates in the reticuloendothelial cells of liver, spleen, bone marrow, and brain

Question 2

sphingolipidosis due to deficiency in hexosamindase A

Answer 2

tay sachs

Question 3

hyperacusis, mental retardation, seizures, cherry red macula, but NO hepatosplenomegaly or cervical lymphadenopathy

Answer 3

tay sachs

Question 4

sphingolipidosis due to def in glucocerebrosidase

Answer 4

gaucher’s disase

Question 5

hepatosplenomegaly, anemia, leukopenia, and thrombocytopenia but NOT cherry red macula

Answer 5

gaucher’s disease

Question 6

sphingolipidosis due to def in galactocerebrosidase

Answer 6

krabbe’s disease

Question 7

hyperacusis, irritiability, and seizures

Answer 7

krabbe’s disease

Question 8

coarse facial features, hydrocephalus and umbilica herna

Answer 8

mucopolysaccharidoses

Question 9

neonate with hypocalcemic seizures

Answer 9

digeorge syndrome

Question 10

esophageal atresia, congenital heart disease, anomalies of the great vessels, mandibular hypoplasia, and low set notched ears

Answer 10

di george

Question 11

free air above the liver

Answer 11

intestinal perforaion

Question 12

kawasaki criteria

Answer 12

fever at least 5 days plus four of the following: bilateral nonexudative conjunctivits, mucositis, cervical lymphadenopathy, erythematous polymorphous rash, extremty edema or erythema

Question 13

mucositis in Kawasaki

Answer 13

injected or fissured lips, injected pharynx, or strawberry tongue

Question 14

baseline echo should be performed on all patients with suspected KD

Answer 14

and repeated 6-8 weeks later to monitor for any changes

Question 15

indomethacin

Answer 15

CLOSES the PDA

Question 16

idiopthic osteonecrosis of the femoral head

Answer 16

legg-calve-perthes

Question 17

mild chronic hep or knee pain of insidious onset as well as antalgic gait

Answer 17

legg-calve-perthes

Question 18

LCP

Answer 18

internal rotation and abduction at the hip joint can become markedly limited

Question 19

flattened and fragmented femoral head on xray

Answer 19

LCP

Question 20

treatment for LCP

Answer 20

maintain the femoral head within the acetabulum via splintng or surgery

Question 21

fair hair and skin, blue eyes, eczematous rash, urine has a mousy odor

Answer 21

PKU; guthrie test

Question 22

treatment of PKU

Answer 22

low-phenylalanine diet, avoid high protein foods; if treated, patiens have normal mental development and life span

Question 23

macrocytic anemia, low retics, and congenital anomalies

Answer 23

diamond-blackfan anemia

Question 24

defect of erythroid progenitor cells which results in increased apoptosis

Answer 24

diamond blackfan anemia

Question 25

therapy for diamond blackfan anemia

Answer 25

corticosteroids; transfusion for patients unresponsive to steroids

Question 26

idiopathic aplastic anemia

Answer 26

pancytopenia; may be due to chemicals, drgs, infectious agens, or ionizing radiation

Question 27

AR disorder characterized by progressive pancytopenia and macrocytosis

Answer 27

fanconi’s anemia

Question 28

caf au lait spots, micocephaly, micropthalmia, short staurs, horseshoe kidneys and absent thumbs

Answer 28

fanconi anemia

Question 29

short stature,webbed neck, cleft lib, shielded chest, and triphalangeal thumbs

Answer 29

diamond blackfan syndrome

Question 30

panner disease

Answer 30

osteochondrosis of the capitellum of the elbow; happens with too much throwing; treat symptomatically