Fabry Disease with Aseptic Meningitis:A Case Series and Literature Review of an Underestimated Clinical Presentation

• 作者: Ming-yu TANG Yue-hui HONG Li-xin ZHOU Jun NI
• 来源期刊: 当代医学科学（英文）
• 年，卷（期）: 2022,（2）
• 所属期刊栏目: COLUMN OF CEREBROVASCULAR DISEASES
• 页码范围: 274-279
• 页数: 6页
• 语种: 英文
• DOI: 10.1007/s11596-022-2578-4

摘要

Objective:Fabry disease(FD)is an X-linked lysosomal storage disease caused by the mutation in the α-galactosidase A gene that leads to a consequently decreased α-galactosidase A enzyme activity and a series of clinical presentations.However,FD accompanied with aseptic meningitis can be relatively scarce and rarely reported,which leads to significant clinical misdiagnosis of this disease.Methods:Sixteen patients diagnosed with FD based on a decreased activity of α-galactosidase A enzyme and/or genetic screening were identified through a 6-year retrospective chart review of a tertiary hospital.Clinical presentations,brain magnetic resonance imaging,cerebrospinal fluid analysis,treatment and outcome data were analyzed in cases of aseptic meningitis associated with FD.Results:Three out of 16 cases exhibited aseptic meningitis associated with FD.There was one female and two male patients with a mean age of 33.3 years.A family history of renal failure or hypertrophic cardiomyopathy was found in 3 cases.All cases presented with a persistent or intermittent headache and recurrent ischemic stroke.The cerebrospinal fluid analyses showed mild pleocytosis in 2 patients and an elevated level of protein in all patients.Cerebrospinal fluid cytology revealed activated lymphocytes,suggesting the existence of aseptic meningitis.In the literature review,up to 9 cases presenting with FD and aseptic meningitis were found,which bore a resemblance to our patients in demographic and clinical characteristics.Conclusion:Our cases suggested that aseptic meningitis in FD might be under-detected and easily misdiagnosed,and should be more thoroughly examined in further cases.