Beyza Canik, Furkan Akkoc, Aydan Dagdas, Sena Destan Bunul, Necmi Eren, Husnu Efendi
Journal of Multiple Sclerosis Research - 2025;5(3):75-78
Fabry disease (FD) is a rare, X-linked lysosomal storage disorder that may mimic multiple sclerosis (MS) due to overlapping neurological symptoms and similar magnetic resonance imaging findings. We report a young man who was initially diagnosed with MS based on sensory symptoms and the presence of white matter lesions. However, the atypical lesion pattern, together with systemic signs including hearing loss and proteinuria, prompted a reevaluation of the diagnosis. Genetic testing confirmed FD, and subsequent family screening identified ten affected relatives, including the patient's mother. This case highlights the importance to recognizing red flags in atypical MS to ensure an accurate diagnosis and the early initaiation of disease-specific treatment.
