Fabry disease in a young female with stroke as the primary manifestation: a case report
10.3760/cma.j.cn113694-20240613-00406
- VernacularTitle:以卒中为主要表现的青年女性Fabry病1例
- Author:
Rong ZHOU
1
;
Zhijiao HE
1
;
Xin CHENG
1
Author Information
1. 复旦大学附属华山医院神经内科 国家神经疾病医学中心 国家老年疾病临床医学研究中心，上海 200040
- Publication Type:Journal Article
- Keywords:
Fabry disease;
Aseptic meningitis;
Stroke;
GLA gene;
α-Galactosidase A
- From:
Chinese Journal of Neurology
2025;58(1):80-86
- CountryChina
- Language:Chinese
-
Abstract:
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency in α-galactosidase A, leading to a multi-systemic, complex condition. Due to the predominantly non-specific symptoms and signs, it can be easily underdiagnosed or misdiagnosed in the early stage. A young female patient with Fabry disease, who presented primarily with recurrent headaches, fever, and ischemic stroke was reported in this paper. The diagnosis of Fabry disease was confirmed through genetic testing in conjunction with clinical manifestations and laboratory findings, and enzyme replacement therapy was initiated. The clinical manifestations of Fabry′s disease, the key points for diagnosis through neuroimaging, laboratory tests, genetic testing, as well as the rare occurrence of associated aseptic meningitis were summarized through the literature review, aiming to enhance the clinical awareness and early diagnosis of Fabry disease.
