دورية أكاديمية
VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review.
| العنوان: | VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review. |
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| المؤلفون: | Yıldırım M; Department of Pediatric Neurology, Ankara University Faculty of Medicine, Ankara, Turkey., Yarenci GB; Department of Pediatrics, Ankara University Faculty of Medicine, Ankara, Turkey., Genç MB; Ankara University Faculty of Medicine, Ankara, Turkey., Uçar Çİ; Department of Pediatric Neurology, Ankara University Faculty of Medicine, Ankara, Turkey., Bayav S; Department of Pediatric Pulmonology, Ankara University Faculty of Medicine, Ankara, Turkey., Tekin MN; Department of Pediatric Pulmonology, Ankara University Faculty of Medicine, Ankara, Turkey., Bektaş Ö; Department of Pediatric Neurology, Ankara University Faculty of Medicine, Ankara, Turkey., Teber S; Department of Pediatric Neurology, Ankara University Faculty of Medicine, Ankara, Turkey. |
| المصدر: | Neuropediatrics [Neuropediatrics] 2024 Jun; Vol. 55 (3), pp. 200-204. Date of Electronic Publication: 2024 Mar 26. |
| نوع المنشور: | Case Reports; Journal Article; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Hippokrates Verlag Country of Publication: Germany NLM ID: 8101187 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-1899 (Electronic) Linking ISSN: 0174304X NLM ISO Abbreviation: Neuropediatrics Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Stuttgart : Hippokrates Verlag Original Publication: Stuttgart [Germany] : Hippokrates Verlag, [1980]- |
| مواضيع طبية MeSH: | Myasthenic Syndromes, Congenital*/genetics , Myasthenic Syndromes, Congenital*/drug therapy , Myasthenic Syndromes, Congenital*/physiopathology , Myasthenic Syndromes, Congenital*/diagnosis , Vesicle-Associated Membrane Protein 1*/genetics, Humans ; Male ; Child ; Mutation, Missense |
| مستخلص: | Congenital myasthenic syndrome-25 (CMS-25) is an autosomal recessive neuromuscular disorder caused by a homozygous mutation in VAMP1 gene. To date, only eight types of allelic variants in VAMP1 gene have been reported in 12 cases of CMS-25. Here, we report on an 8-year-old boy with motor developmental delay, axial hypotonia, myopathic face, muscle weakness, strabismus, ptosis, pectus carinatum, kyphoscoliosis, joint contractures, joint laxity, seizures, and recurrent nephrolithiasis. He also had feeding difficulties and recurrent aspiration pneumonia. Brain magnetic resonance imaging at 20 months of age showed left focal cerebellar hypoplasia. Genetic analysis revealed a homozygous missense variant of c.202C > T (p.Arg68Ter) in the VAMP1 gene. Treatment with oral pyridostigmine was started, which resulted in mild improvement in muscle strength. Salbutamol syrup was added a few months later, but no significant improvement was observed. This case report presents novel findings such as focal cerebellar hypoplasia and nephrolithiasis in VAMP1 -related CMS-25. Consequently, this case report extends the clinical spectrum. Further studies are needed to expand the genotype-phenotype correlations in VAMP1 -related CMS-25. Competing Interests: None declared. (Thieme. All rights reserved.) |
| المشرفين على المادة: | 0 (Vesicle-Associated Membrane Protein 1) |
| تواريخ الأحداث: | Date Created: 20240326 Date Completed: 20240506 Latest Revision: 20240712 |
| رمز التحديث: | 20240712 |
| DOI: | 10.1055/s-0044-1782675 |
| PMID: | 38531369 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1439-1899 |
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| DOI: | 10.1055/s-0044-1782675 |