70. 五個月大的小妹妹因肺炎入院，理學檢查發現心臟擴大、低張力與肝腫大， 出生史為正常，家族史發現病人之一姐一兄均於嬰兒時期因心臟疾病死亡，可能之診斷為何？
(A)Mucopolysaccharidoses。
(B)Fabry disease。
(C)Pompe disease。
(D)Sphingolipidoses。
(E)Danon disease。

答案：登入後查看
統計： A(2), B(4), C(34), D(0), E(0) #1125777

詳解 (共 1 筆)

#1390421
Ans: C
MPS: defect of Glycosaminoglycan(GAGs) metabolism,  type I-VII(有些type沒有以下部分症狀)
type I: α-L-iduronidase
Mental deficiency, coarse facial features, corneal clouding, visceromegaly, short stature, joint contractures, dysostosis multiplex, leucocyte inclusions, mucopolysacchariduria
 
Fabry disease: X-linked , defect of lyposomal glycosphingolipid metabolism by alpha-galactosidase
Male with classic phenotype: angiokeratomas, hypohidrosis, corneal and lenticular opacity, acroparethesias, vascular disease of kidney, heart and brain at advaced age
Heterozygous female: corneal opacities, isolated skin lesions; rare may as severe as males.
 
Pompe disease: (GSD type II, defect of )
infantile: onset: birth-6m/o , Cardiomegaly, hypotonia, hepatomegaly; death due to cardiopulmonary failure at 1-2 yr
juvenile and adult: onset: childhood-adulthood, myopathy, cardiomyopathy, respiratory insufficiency
 
Sphingolipidoses包含:
GM1/GM2 gangliosidosis,Niemann-Pick disease, Gaucher disease, Krabbe disease,  metachromatic leukodystrophy, Fabry disease, Faber disease, Tay-Sachs disease
都沒有myocardium involvement
 
Dano diseae:
一種GSD, 會HCM, 不會 hepatosplenomegaly
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