Case reportFabry disease mimicking multiple sclerosis: Lessons from two case reports

- Neurological features include peripheral nerve disease and cerebrovascular disease.
- Non-neurological features can help distinguish multiple sclerosis from Fabry disease.
- Radiological findings in Fabry disease can mimic multiple sclerosis.
- Specialist neuroradiological interpretation is required.

Fabry disease is an X-linked lysosomal storage disorder that can mimic multiple sclerosis. We present two cases of heterozygous adult women where clinical and radiological features initially suggested a diagnosis of multiple sclerosis. This led us to review the early clinical course and neurological features of Fabry disease and highlight the importance of assessing non-neurologic (systemic) symptoms when considering a diagnosis of multiple sclerosis and the need for specialist interpretation of neuroradiological findings.