Department of Internal Medicine, Hôpital Bichat Claude-Bernard, 75877 Paris, France.
Int J Clin Pract. 2009 Nov;63(11):1663-7. doi: 10.1111/j.1742-1241.2009.02115.x.
Fabry disease (OMIM 301 500) is an X-linked lysosomal storage disease. Neurological symptoms in Fabry disease mainly include stroke, acroparesthesia, cranial nerve palsies and autonomic dysfunction. We report on aseptic meningitis in Fabry patients.
Clinical analysis, brain magnetic resonance imaging, cerebrospinal fluid analysis, treatment and outcome data were analysed in three cases of meningitis associated with Fabry disease.
Mean age at meningitis onset was 26.6 (24-28) years. Headache was present in all cases and fever in two cases. Meningitis was always diagnosed before Fabry disease. A familial history of Fabry disease was present in two cases. Non-neurological symptoms caused by Fabry disease were present in all cases. All patients also suffered stroke and sensorineural hearing loss. Cerebrospinal fluid (CSF) analysis showed pleocytosis (mean, 36; range: 8-76 cells/mm(3)) and a high protein level (mean, 63; range, 47-70 mg/dl). C-reactive protein blood levels and erythrocyte sedimentation rate were raised. Diagnosis was assessed by low alpha-galactosidase A dosage and/or gene mutation analysis in all cases. All patients were treated with enzyme replacement therapy (ERT). In two cases, lumbar puncture was repeatedly performed and there was no normalisation of CSF under ERT alone, at 9 and 24 months of follow-up, respectively. One patient who suffered intracranial hypertension was treated efficiently with steroids, associated with azathioprine. The fact that Fabry disease could be an auto-inflammatory disorder is discussed.
Fabry disease may cause aseptic meningitis.
法布里病（OMIM 301500）是一种 X 连锁溶酶体贮积病。法布里病的神经症状主要包括中风、肢端感觉异常、颅神经麻痹和自主神经功能障碍。我们报告了法布里病患者的无菌性脑膜炎。
对三例与法布里病相关的脑膜炎患者的临床分析、脑磁共振成像、脑脊液分析、治疗和预后数据进行了分析。
脑膜炎发病的平均年龄为 26.6 岁（24-28 岁）。所有病例均有头痛，两例有发热。脑膜炎总是在法布里病之前被诊断出来。两例有法布里病家族史。所有病例均存在非神经症状。所有患者均患有中风和感觉神经性听力损失。脑脊液（CSF）分析显示细胞增多症（平均值 36；范围 8-76 个细胞/mm3）和高蛋白水平（平均值 63；范围 47-70mg/dl）。C 反应蛋白血液水平和红细胞沉降率升高。所有病例均通过低α-半乳糖苷酶 A 剂量和/或基因突变分析进行评估。所有患者均接受酶替代治疗（ERT）。在两例患者中，腰椎穿刺反复进行，在单独使用 ERT 时，CSF 未得到正常化，分别在 9 个月和 24 个月的随访时。一名患有颅内压增高的患者通过与硫唑嘌呤联合使用类固醇进行了有效的治疗。讨论了法布里病可能是一种自身炎症性疾病的事实。
法布里病可能导致无菌性脑膜炎。
