title: Aseptic meningitis and ischaemic stroke in Fabry disease.
abstract: BACKGROUND
  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.
  
  
  METHODS
  Clinical analysis, brain magnetic resonance imaging, cerebrospinal fluid analysis, treatment and outcome data were analysed in three cases of meningitis associated with Fabry disease.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  Fabry disease may cause aseptic meningitis.
authors.affiliation: Department of Internal Medicine, Hôpital Bichat Claude-Bernard, 75877 Paris, France. olivier.lidove@bch.aphp.fr
authors.forename: O
authors.initials: O
authors.lastname: Lidove
authors.forename: M-P
authors.initials: MP
authors.lastname: Chauveheid
authors.forename: C
authors.initials: C
authors.lastname: Caillaud
authors.forename: R
authors.initials: R
authors.lastname: Froissart
authors.forename: L
authors.initials: L
authors.lastname: Benoist
authors.forename: S
authors.initials: S
authors.lastname: Alamowitch
authors.forename: S
authors.initials: S
authors.lastname: Doan
authors.forename: R
authors.initials: R
authors.lastname: Szalat
authors.forename: N
authors.initials: N
authors.lastname: Baumann
authors.forename: J-F
authors.initials: JF
authors.lastname: Alexandra
authors.forename: P
authors.initials: P
authors.lastname: Lavallée
authors.forename: I
authors.initials: I
authors.lastname: Klein
authors.forename: F
authors.initials: F
authors.lastname: Vuillemet
authors.forename: F
authors.initials: F
authors.lastname: Sedel
authors.forename: K
authors.initials: K
authors.lastname: Sacré
authors.forename: Y
authors.initials: Y
authors.lastname: Samson
authors.forename: E
authors.initials: E
authors.lastname: Roullet
authors.forename: T
authors.initials: T
authors.lastname: Papo
mesh_terms: D000328:Adult; D002545:Brain Ischemia / Q000209:etiology*; D042241:Early Diagnosis; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis; D006261:Headache / Q000209:etiology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008582:Meningitis, Aseptic / Q000209:etiology*; D020521:Stroke / Q000209:etiology*