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.

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.