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Fabry Disease: A Rare Mutation With Common Clinical Presentation

Year: 2024

Type: article

Abstract: 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.

Source: Cureus

DOI: 10.7759/cureus.71924

Authors: Mariana Certal, Elisabete Cerqueira, Cátia Ribeiro, Marta B Santos, Sandra Tavares

Institution: Unidade Local de Saúde de Trás-os-Montes e Alto Douro

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4403573226