[SMC] Congenital Myasthenic Syndrome Associated With SLC25A1 Gene Variant: The First Reported Case in Saudi Arabia

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Cureus. 2023 Mar 6;15(3):e35808. doi: 10.7759/cureus.35808. eCollection 2023 Mar.

ABSTRACT

We report the case of a two-year-old full-term girl of consanguineous Saudi parents, who had a history of poor sucking, hypotonia, and bilateral ptosis, as well as recurrent pediatric intensive care unit (PICU) admissions with apnea and global developmental delay and unremarkable family history. A genetic study was conducted and whole exome sequencing (WES) identified a likely pathogenic homozygous variant c.842C>T p.(Ala281Val) in the SLC25A1 gene. This finding is consistent with the genetic diagnosis of autosomal recessive combined D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA). Genetic testing results suggested a diagnosis of congenital myasthenic syndrome (CMS) type 23 [Online Mendelian Inheritance in Man (OMIM) #618197]. CMS is a highly heterogeneous group of neuromuscular junction (NMJ) disorders clinically and genetically and compromises the safety margin required for reliable neuromuscular transmission. Fortunately, we suspected a CMS in our patient, and the initiation of management with pyridostigmine has substantially improved the patient's condition.

PMID:37033560 | PMC:PMC10074331 | DOI:10.7759/cureus.35808


Source: https://pubmed.ncbi.nlm.nih.gov/3703356 ... t6+86293ac