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Abstract：
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.
摘要：
法布里病是一种酶α-半乳糖苷酶A的X连锁疾病，导致血管和器官中溶酶体中糖脂的积累。这种疾病很少见，估计发病率为40,000人中有1人，女性比男性更罕见。感觉异常，听力损失,中风是典型的神经系统表现。脑磁共振成像异常可能模仿多发性硬化症（MS）中看到的那些。这里报道的是女性杂合子误认为MS的Fabry病很少报道的病例之一。
