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This case study highlights a patient with Fabry disease presenting with neurological symptoms. Further follow-up is crucial to differentiate between Fabry disease and multiple sclerosis.

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Area of Science:

  • Neurology
  • Genetics
  • Biochemistry

Background:

  • Fabry disease is a rare X-linked lysosomal storage disorder.
  • It affects multiple organ systems, including the central nervous system (CNS).
  • CNS manifestations include white matter lesions, vasculopathy, and autoinflammatory changes.

Observation:

  • A 36-year-old female presented with left eye visual loss.
  • MRI revealed demyelinating lesions and optic neuritis; medical history included renal dysfunction and a family history of Fabry disease.
  • Genetic and biochemical tests confirmed Fabry disease with decreased alpha-galactosidase activity and elevated Lyso GB3.

Findings:

  • Cerebrospinal fluid analysis showed mild pleocytosis and oligoclonal bands.
  • Initial treatment with corticosteroids led to visual symptom regression.
  • The patient exhibited symptoms suggestive of both Fabry disease and multiple sclerosis.

Implications:

  • Early diagnosis of Fabry disease is essential for timely intervention, particularly for CNS manifestations.
  • Distinguishing between Fabry disease and multiple sclerosis is critical for appropriate treatment strategies.
  • Enzyme replacement therapy is indicated for managing CNS involvement in Fabry disease.