Misdiagnosis of multiple sclerosis in a female heterozygote with Fabry's disease

被引：5

作者：

Berger, Joseph R. ^{[1
]}

机构：

[1] Univ Penn, Perelman Sch Med, Dept Neurol, PCAM South Tower 765,3400 Convent Ave, Philadelphia, PA 19104 USA

来源：

MULTIPLE SCLEROSIS AND RELATED DISORDERS | 2019年 / 30卷

关键词：

Multiple sclerosis; Fabry's disease; Magnetic resonance imaging; Paresthesia; WHITE-MATTER LESIONS; DIFFERENTIAL-DIAGNOSIS; MANIFESTATIONS;

D O I：

10.1016/j.msard.2019.01.040

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Fabry's disease is an X-linked disorder of enzyme alpha-galactosidase A which leads to an accumulation of the glycolipids in lysosomes in vessels and organs. The disorder is rare with an estimated incidence of 1 in 40,000 and disease occurs more rarely in women than men. Paresthesias, hearing loss, and stroke are the typical neurological manifestations. Brain magnetic resonance imaging abnormalities may mimic those seen in multiple sclerosis (MS). Reported here is one of the rarely reported cases of Fabry's disease in a female heterozygote mistaken for MS.

引用

页码：45 / 47

页数：3

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