ArticleCureus2025
Congenital Myasthenia Gravis Presenting as Refractory Seizures and Respiratory Failure: A Case Report.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital myasthenia syndrome (CMS) is an inherited disorder that involves muscle weakness and fatigue. It can present at birth or late childhood and has variable presentations and severity. It consists of a heterogeneous group of disorders characterized by defective neuromuscular junction (NMJ) transmission. Muscle weakness is common in patients with CMS, but other clinical presentations depend on the genetic defect. CMS is associated with mutations of genes at NMJ, involving the acetylcholine receptors (AChR) subunits. Here, we present the case of a 14-month-old child who presented with refractory seizures and respiratory depression requiring prolonged ventilation and tracheostomy. His whole exome sequencing (WES) showed a variant in the homozygous state in the CHAT gene. Pathogenic variants in this gene are associated with autosomal recessive presynaptic congenital myasthenic syndrome type 6. He did not have any family history of myasthenia gravis and showed marked improvement after starting pyridostigmine despite being started late. This case report has been accepted for poster presentation at the Oman Genetic Society for Genetic Medicine Scientific Research Day, which was held on the 5
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