Fabry Disease: A Rare Mutation With Common Clinical Presentation

Strokes are infrequent in younger adults, making diagnosis of their underlying causes challenging. Fabry disease, a rare genetic condition with a complex and not fully understood pathophysiology, is one potential cause. This report describes a 41-year-old woman with a history of glaucoma, recurrent uveitis, ischemic stroke affecting the posterior circulation, and sensorineural hearing loss. She was admitted to the emergency department with dysarthria, left facial paralysis, and sudden onset left hemiparesis. Imaging revealed an acute ischemic lesion and hypoplasia of the right vertebral artery. Genetic testing for CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) was negative, but a heterozygous c.937G>T (p.Asp313Tyr) variant in the GLA gene was detected, indicating Fabry disease. This case underscores the importance of early diagnosis, given the potential for treatment with enzyme replacement therapy.