Fabry Disease: A Rare Mutation With Common Clinical Presentation.

Autor:	Certal M; Internal Medicine, Unidade Local de Saúde de Trás-os-Montes e Alto Douro, Chaves, PRT., Cerqueira E; Internal Medicine, Unidade Local de Saúde de Trás-os-Montes e Alto Douro, Chaves, PRT., Ribeiro C; Internal Medicine, Unidade Local de Saúde de Trás-os-Montes e Alto Douro, Chaves, PRT., Santos MB; Internal Medicine, Unidade Local de Saúde de Trás-os-Montes e Alto Douro, Chaves, PRT., Tavares S; Internal Medicine, Unidade Local de Saúde de Trás-os-Montes e Alto Douro, Chaves, PRT.
Jazyk:	angličtina
Zdroj:	Cureus [Cureus] 2024 Oct 20; Vol. 16 (10), pp. e71924. Date of Electronic Publication: 2024 Oct 20 (Print Publication: 2024).
DOI:	10.7759/cureus.71924
Abstrakt:	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. Competing Interests: Human subjects: Consent for treatment and open access publication was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work. (Copyright © 2024, Certal et al.)
Databáze:	MEDLINE
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