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Fabry disease mimicking multiple sclerosis: Lessons from two case reports.

S E Shribman¹, A R F Shah², D J Werring²

¹The Blizard Institute, Barts and the London School of Medicine and Dentistry, 4 Newark Street, London E1 2AT, UK.

Multiple Sclerosis and Related Disorders

|March 20, 2015

Summary

This summary is machine-generated.

Fabry disease, a genetic disorder, can initially resemble multiple sclerosis in women. Recognizing non-neurologic symptoms is crucial for accurate Fabry disease diagnosis, avoiding misdiagnosis of multiple sclerosis.

Keywords:

Fabry disease MRI Multiple sclerosis

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Area of Science:

Neurology
Genetics
Metabolic Disorders

Background:

Fabry disease is an X-linked lysosomal storage disorder.
It can present with symptoms mimicking other neurological conditions.
Differentiating Fabry disease from multiple sclerosis is clinically challenging.

Observation:

Two cases of heterozygous adult women presented with initial symptoms suggestive of multiple sclerosis.
Clinical and radiological findings in these cases were initially misleading.
Neurological and non-neurologic (systemic) symptoms were evaluated.

Findings:

Fabry disease can present with diverse neurological manifestations.
Heterozygous women can exhibit significant clinical phenotypes.
Early recognition of systemic signs aids in differentiating Fabry disease.

Implications:

Highlights the importance of considering Fabry disease in differential diagnosis of multiple sclerosis.
Emphasizes the need for thorough assessment of systemic symptoms in suspected neurological disorders.
Underscores the necessity of expert interpretation of neuroradiological findings in complex cases.