Anke Geertje Boxum, Dennis Klaas Bos, Gea Drost, Jan-Willem Elting, Tom Jozef de Koning, Sonja Leonie van Ockenburg, Lisette Henriëtta Koens
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引用次数: 0
Abstract
Introduction: Recognizing congenital myasthenic syndromes is essential, as appropriate medication can improve muscle weakness.
Case presentation: We report on a 25-year-old male who was diagnosed with a mitochondrial myopathy based on muscle biopsy in childhood, although genetic testing of the mitochondrial DNA did not show abnormalities. New analysis, including a gene panel, revealed two novel variants in the SLC18A3 gene, and characteristic electromyography findings changed his diagnosis to a congenital myasthenic syndrome. Treatment was started, which significantly improved his quality of life.
Conclusion: Our report underscores the importance of re-evaluating diagnoses in patients without genetic confirmation, so that treatable conditions are not overlooked.
期刊介绍：
This new peer-reviewed online-only journal publishes original case reports covering the entire spectrum of neurology. Clinicians and researchers are given a tool to disseminate their personal experience to a wider public as well as to review interesting cases encountered by colleagues all over the world. To complement the contributions supplementary material is welcomed. The reports are searchable according to the key words supplied by the authors; it will thus be possible to search across the entire growing collection of case reports with universally used terms, further facilitating the retrieval of specific information. Following the open access principle, the entire contents can be retrieved at no charge, guaranteeing easy access to this valuable source of anecdotal information at all times.
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