Case Report: A Case Report of Congenital Myasthenia Gravis Presenting With Respiratory Distress

Congenital Myasthenic Syndromes (CMS) are rare inherited disorders characterized by dysfunctionof neuromuscular transmission at the neuromuscular junction. Most patients with congenitalmyasthenic syndromes present in the infancy. Major symptoms of affected individuals includeweakness and fatigue during the first years of life. Patients may show hypotonia, facial weakness,swallowing difficulties, respiratory dysfunction, ptosis and ophthalmoparesis. Here we report a 6month old boy congenital myasthenia gravis due to homozygous mutation in COLQ gene. Thepatient presented with several episodes of apnea and didn’t have ptosis until 6 months of age, andeven at this time it started as just left eye ptosis and after a few days became bilateral. He had beenmisdiagnosed with several other causes of episodic apnea. Later by using electrophysiology hewas diagnosed as congenital myasthenia gravis and mutation analysis of the patient revealed thepresence of mutation of COLQ gene and was treated successfully

کلیدواژه ها:

Myasthenia gravis ، Congenital ، Apnea