Fabry Disease: A Atypical Presentation.
| Autor: | Ferreira Tátá C; Internal Medicine, Hospital do Espírito Santo de Évora, Évora, PRT., Massas M; Internal Medicine, Hospital do Espírito Santo de Évora, Évora, PRT., Pinto F; Internal Medicine, Hospital do Espirito Santo de Évora, Évora, PRT., Caçador N; Radiology • Neuroradiology, Hospital do Espirito Santo de Évora, Évora, PRT., Silva AL; Internal Medicine, Hospital do Espirito Santo de Évora, Évora, PRT. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2021 Oct 12; Vol. 13 (10), pp. e18708. Date of Electronic Publication: 2021 Oct 12 (Print Publication: 2021). |
| DOI: | 10.7759/cureus.18708 |
| Abstrakt: | Fabry Disease (FD) is a rare X-linked recessive disease caused by mutations in the GLA gene that lead to a decrease or lack of activity of the enzyme alpha galactosyl A. This lysosomal storage disorder results in progressive damage and dysfunction of several organs and, depending on the type of mutation and gender of the patient, and it may have different manifestations. As FD is a multisystem disease with a progressive character and varying severity, the diagnosis can be challenging, especially when it comes to non-classical forms. As this is a hereditary disease, its diagnosis impacts not only the patient but also his family, making an accurate and timely diagnosis even more important. We present the case of a 59-years-old man diagnosed with non-classical FD, with previous neurological and psychiatric complaints, who was admitted to the Emergency Department (ED) with a generalized tonic-clonic seizure that required orotracheal intubation for airway protection and transferred to an Intensive Care Unit (ICU). Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2021, Ferreira Tátá et al.) |
| Databáze: | MEDLINE |
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