Fabry heterozygote mimicking multiple sclerosis

Area of Science:

• Neurology
• Genetics
• Metabolic Disorders

Background:

• Fabry disease (FD) is an X-linked lysosomal storage disorder.
• FD deficiency of alpha-galactosidase A can mimic multiple sclerosis (MS) symptoms.
• Enzyme replacement therapy is available for FD.

Observation:

• A 65-year-old woman presented with a 40-year history of symptoms mimicking benign MS, including recurrent posterior circulation stroke-like episodes, hearing loss, and acroparesthesia.
• Her MRI brain showed typical features of MS, despite the absence of a prior FD diagnosis.
• She later experienced an ischemic stroke, infiltrative cardiomyopathy, and chronic renal failure.

Findings:

• The patient was found to have a missense mutation (p.R342Q) in the galactosidase alpha (GLA) gene, confirming Fabry disease.
• Her clinical presentation met modified McDonald criteria for MS due to the delayed FD diagnosis.

Implications:

• Neurologists must consider FD in patients with atypical MS presentations.
• Over-reliance on MRI findings can lead to missed FD diagnoses.
• Timely diagnosis of FD prevents unnecessary immunosuppression, inappropriate counseling, and facilitates crucial treatment opportunities.