COLQ-mutation congenital myasthenic syndrome in late adolescence: Case report and review of the literature

• Published in: Heliyon 2023, Vol.9 (9), p.e19980-e19980
• Main Authors: Yin, Yatao, Cao, Jing, Fan, Yuanteng, Xu, Yan
• Format: Report
• Language: English
• ISSN: 2405-8440; 2405-8440
• DOI: 10.1016/j.heliyon.2023.e19980

Congenital myasthenia syndromes (CMS) are a heterogeneous group of hereditary disorders of the neuromuscular junction. The symptoms include fatigue, muscle weakness, ptosis, mastication or swallowing problem, respiratory distress. We present a 42-year-old male patient who was admitted with complaints of paroxysmal limb weakness for 25 years and got repeated apnea crisis due to using AchE inhibitors. We considered this patient to be COLQ-related CMS because of two types characteristics. One is the symptom will deteriorate or non-responsive after giving AchE inhibitors and the other is repeated compound action potentials may appear after one current stimulation. At last we confirmed the diagnosis by genetic testing. It is a rare CMS case caused by homozygous mutation in the COLQ gene which occurred at late adolescence. Our case demonstrates that for those serum-negative MG patients, CMS gene mutation screening should be considered, especially if the patient has an symptom onset of childhood and adolescence.