岩藻糖苷贮积症

Fucosidosis.

作者信息

Smith E B, Graham J L, Ledman J A, Snyder R D

出版信息

Cutis. 1977 Feb;19(2):195-8.

Abstract

Disseminated angiokeratomas can be seen in patients with an inherited deficiency of alpha-l-fucosidase as well as in patients with classic Fabry's disease. Patients with deficiency of this lysosomal enzyme, or fucosidosis, have spasticity, mental retardation, and retardation of growth in addition to angiokeratomas. We herein report three new cases of this rare syndrome.

摘要

弥漫性血管角质瘤可见于遗传性α-L-岩藻糖苷酶缺乏症患者以及典型法布里病患者。这种溶酶体酶缺乏的患者，即岩藻糖苷贮积症患者，除血管角质瘤外，还伴有痉挛、智力迟钝和生长发育迟缓。我们在此报告三例这种罕见综合征的新病例。