典型文献
Fabry Disease with Aseptic Meningitis:A Case Series and Literature Review of an Underestimated Clinical Presentation
文献摘要：
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.
文献关键词：
中图分类号：
作者姓名：
Ming-yu TANG;Yue-hui HONG;Li-xin ZHOU;Jun NI
作者机构：
Department of Neurology,State Key Laboratory of Complex Severe and Rare Diseases,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100005,China
文献出处：
引用格式：
[1]Ming-yu TANG;Yue-hui HONG;Li-xin ZHOU;Jun NI-.Fabry Disease with Aseptic Meningitis:A Case Series and Literature Review of an Underestimated Clinical Presentation)[J].当代医学科学(英文),2022(02):274-279
A类：
Aseptic,Meningitis,Underestimated,pleocytosis
B类：
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AB值：
0.571325
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