A Case Report of Congenital Myasthenia Gravis Presenting With Respiratory Distress

Congenital Myasthenic Syndromes (CMS) are rare inherited disorders characterized by dysfunction of neuromuscular transmission at the neuromuscular junction. Most patients with congenital myasthenic syndromes present in the infancy. Major symptoms of affected individuals include weakness 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 6 month old boy congenital myasthenia gravis due to homozygous mutation in COLQ gene. The patient presented with several episodes of apnea and didn’t have ptosis until 6 months of age, and even at this time it started as just left eye ptosis and after a few days became bilateral. He had been misdiagnosed with several other causes of episodic apnea. Later by using electrophysiology he was diagnosed as congenital myasthenia gravis and mutation analysis of the patient revealed the presence of mutation of COLQ gene and was treated successfully.