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Aseptic meningitis and ischaemic stroke in Fabry disease

O Lidove1, M-P Chauveheid, C Caillaud

  • 1Department of Internal Medicine, Hôpital Bichat Claude-Bernard, 75877 Paris, France. olivier.lidove@bch.aphp.fr

International Journal of Clinical Practice
|October 17, 2009
PubMed
Abstract

Insights

Fabry disease, a genetic disorder, can manifest as aseptic meningitis. This condition requires careful diagnosis, as it may precede the identification of Fabry disease itself.

Area of Science:

  • Neurology
  • Genetics
  • Immunology

Background:

  • Fabry disease is an X-linked lysosomal storage disorder.
  • Neurological manifestations include stroke, autonomic dysfunction, and cranial nerve palsies.
  • Aseptic meningitis is an uncommon presentation in Fabry disease.

Observation:

  • Three cases of meningitis in Fabry disease patients were analyzed.
  • Meningitis symptoms (headache, fever) were observed, often diagnosed before Fabry disease.
  • Patients presented with stroke, hearing loss, and elevated inflammatory markers.

Findings:

  • Cerebrospinal fluid analysis revealed pleocytosis and high protein levels.
  • Low alpha-galactosidase A activity or gene mutations confirmed Fabry disease.
  • Enzyme replacement therapy (ERT) alone did not normalize CSF in all cases.
  • One patient responded well to steroids and azathioprine for intracranial hypertension.

Implications:

  • Fabry disease should be considered in the differential diagnosis of aseptic meningitis.
  • The potential for Fabry disease to be an auto-inflammatory disorder warrants further investigation.
  • Management may require a multimodal approach beyond standard ERT.

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