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Updated: Aug 29, 2025

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Aseptic meningitis in Fabry disease due to a novel GLA variant: an expanded phenotype?

Paulo Ribeiro Nóbrega1,2, João Lucas Araújo Morais3, Alliane Milliane Ferreira4,5

  • 1Division of Neurology, Department of Clinical Medicine, Faculty of Medicine, Universidade Federal do Ceará, Fortaleza, Brazil.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|September 12, 2022
PubMed

Insights

A novel genetic variant in Fabry disease (FD) was linked to aseptic meningitis in two family members. This finding suggests meningitis may be more common in FD than previously thought.

Area of Science:

  • Genetics
  • Neurology
  • Rare Diseases

Background:

  • Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by globotriosylceramide accumulation.
  • Neurologic manifestations in FD commonly include acroparesthesias and cerebrovascular disease.
  • Aseptic meningitis has been anecdotally reported in FD, but without specific genetic correlation.

Purpose of the Study:

  • To investigate the association between a novel alpha-galactosidase (GLA) variant and aseptic meningitis in a family with Fabry disease.
  • To characterize the clinical presentation and genetic basis of aseptic meningitis in this family.

Main Methods:

  • Identified the proband and screened family members for FD symptoms.
  • Evaluated symptomatic individuals for genetic and biochemical status.
  • Conducted magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) analysis in affected individuals.

Main Results:

  • Five family members (3 females) with FD were studied, with a mean age at diagnosis of 20.6 years.
  • Two patients (40%) presented with aseptic meningitis; one also experienced cerebrovascular events.
  • Elevated inflammatory markers (CRP, ESR) were observed during meningitis episodes, with positive response to methylprednisolone.

Conclusions:

  • A novel GLA pathogenic variant was identified in a family with FD and aseptic meningitis.
  • Aseptic meningitis may be a more frequent manifestation of FD, not exclusive to specific variants.
  • Further research is needed to understand the link between meningitis, cerebrovascular events, and potential new treatment strategies for stroke in FD.
Abstract

Keywords:
Enzyme replacement therapyFabry diseaseInflammationMeningitisStroke

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