peds105 Flashcards Preview

Peds > peds105 > Flashcards

Flashcards in peds105 Deck (30):
1

niemann pick disease

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

2

sphingolipidosis due to deficiency in hexosamindase A

tay sachs

3

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

tay sachs

4

sphingolipidosis due to def in glucocerebrosidase

gaucher's disase

5

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

gaucher's disease

6

sphingolipidosis due to def in galactocerebrosidase

krabbe's disease

7

hyperacusis, irritiability, and seizures

krabbe's disease

8

coarse facial features, hydrocephalus and umbilica herna

mucopolysaccharidoses

9

neonate with hypocalcemic seizures

digeorge syndrome

10

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

di george

11

free air above the liver

intestinal perforaion

12

kawasaki criteria

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

13

mucositis in Kawasaki

injected or fissured lips, injected pharynx, or strawberry tongue

14

baseline echo should be performed on all patients with suspected KD

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

15

indomethacin

CLOSES the PDA

16

idiopthic osteonecrosis of the femoral head

legg-calve-perthes

17

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

legg-calve-perthes

18

LCP

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

19

flattened and fragmented femoral head on xray

LCP

20

treatment for LCP

maintain the femoral head within the acetabulum via splintng or surgery

21

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

PKU; guthrie test

22

treatment of PKU

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

23

macrocytic anemia, low retics, and congenital anomalies

diamond-blackfan anemia

24

defect of erythroid progenitor cells which results in increased apoptosis

diamond blackfan anemia

25

therapy for diamond blackfan anemia

corticosteroids; transfusion for patients unresponsive to steroids

26

idiopathic aplastic anemia

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

27

AR disorder characterized by progressive pancytopenia and macrocytosis

fanconi's anemia

28

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

fanconi anemia

29

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

diamond blackfan syndrome

30

panner disease

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