Tay, Chee Geap and Fong, Choong Yi and Li, Limin and Ganesan, Vigneswari and Teh, Chee Ming and Gan, Chin Seng and Thong, Meow-Keong (2020) Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors. Journal of Clinical Neuroscience, 72. pp. 468-471. ISSN 0967-5868, DOI https://doi.org/10.1016/j.jocn.2019.12.007.
Full text not available from this repository.Abstract
Congenital myasthenic syndrome (CMS) is a heterogeneous group of inherited disorder which does not associate with anti-acetylcholine receptor (AChR) antibody. The presence of AChR autoantibody is pathogenic and highly sensitive and specific for autoimmune myasthenia gravis (MG). We describe 2 children from unrelated families who presented with hypotonia, ptosis and fatigability in early infancy with anti-AChR antibodies detected via ELISA on 2 separate occasions in the sera. Both were treated as refractory autoimmune MG due to poor clinical response to acetylcholinesterase inhibitor and immunotherapy. In view of the atypical clinical features, genetic studies of CMS were performed and both were confirmed to have novel pathogenic mutations in the COLQ gene. To the best of our knowledge, the presence of anti-AChR antibody in COLQ-related CMS has never been reported in the literature. The clinical presentation of early onset phenotype, and refractoriness to acetylcholinesterase inhibitor and immunotherapy should prompt CMS as a differential diagnosis. (C) 2019 Elsevier Ltd. All rights reserved.
| Item Type: | Article |
|---|---|
| Funders: | None |
| Uncontrolled Keywords: | Congenital myasthenic syndrome; COLQ gene; Autoimmune myasthenia gravis; Anti-acetylcholine receptor antibody; AChR |
| Subjects: | R Medicine > RJ Pediatrics |
| Divisions: | Universiti Malaya Medical Centre (UMMC) |
| Depositing User: | Ms Zaharah Ramly |
| Date Deposited: | 07 Nov 2024 06:14 |
| Last Modified: | 07 Nov 2024 06:14 |
| URI: | http://eprints.um.edu.my/id/eprint/36938 |
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