Article: Elderly onset of MELAS carried an M.3243A >G mutation in a female with deafness and visual deficits: A case report.
2024 Volume 12, Issue 3, Page(s) e8438
Abstract: Key clinical message: MELAS is a disorder with clinical variability that also responsible for a significant portion of unexplained hereditary or childhood-onset hearing loss. Although patients typically present in childhood, the first stroke-like ... ...
| Abstract | Key clinical message: MELAS is a disorder with clinical variability that also responsible for a significant portion of unexplained hereditary or childhood-onset hearing loss. Although patients typically present in childhood, the first stroke-like episode can occur later in life in some patients, potentially related to a lower heteroplasmy level. It is crucial to consider MELAS as a potential cause of stroke-like events if age at presentation and symptoms are atypical, especially among middle-aged patients without vascular risk factors. Abstract: MELAS syndrome (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) is a rare genetic condition that most patients develop stroke-like episodes before the age of 40. We report a 52-year-old female with a documented 40-year history of progressive sensorineural hearing loss, developed a visual field deficit and stroke-like events in her middle age who finally diagnosed was MELAS. The patient was started on vitamin E, l-carnitine, l-arginine, and coenzyme Q10 that gradually improved before dismissal from the hospital. This case highlights the importance of considering MELAS as a potential cause of stroke-like events if imaging findings are atypical for cerebral infarction, especially among middle-aged patients without vascular risk factors and an unusual cause of progressive sensorineural hearing loss. |
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| Language | English |
| Publishing date | 2024-03-13 |
| Publishing country | England |
| Document type | Case Reports |
| ZDB-ID | 2740234-4 |
| ISSN | 2050-0904 |
| ISSN | 2050-0904 |
| DOI | 10.1002/ccr3.8438 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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