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Author Spotlight: Creating a Versatile Experimental Autoimmune Encephalomyelitis Model Relevant for Both Male and Female Mice

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Published on: October 13, 2023

Fabry heterozygote mimicking multiple sclerosis.

Wai Yan Yau¹, Marzena J Fabis-Pedrini², Allan G Kermode³

¹Department of Neurology, Royal Free Hospital, Sir Charles Gairdner Hospital, London, UK.

BMJ Case Reports

|June 4, 2017

Summary

Fabry disease mimics multiple sclerosis, leading to delayed diagnosis. Early recognition of red flags in atypical MS cases is crucial for timely Fabry disease treatment.

Keywords:

Multiple sclerosis Neurogenetics Neurology

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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.