Author/Authors :
Shervin Badv, Reza Department of Pediatrics - School of Medicine - Tehran University of Medical Sciences, Tehran, Iran , Memarian, Sara Department of Pediatrics - School of Medicine - Tehran University of Medical Sciences, Tehran, Iran , Ghahvechi, Masoud Department of Physical Medicine and Rehabilitation - School of Medicine - Tehran University of Medical Sciences, Tehran, Iran , Farshad Moghaddam, Hossein Department of Pediatrics - School of Medicine - Tehran University of Medical Sciences, Tehran, Iran , Saidi, Maryam Department of Pediatrics - School of Medicine - Tehran University of Medical Sciences, Tehran, Iran , Mohsenipour, Reihaneh Department of Pediatrics - School of Medicine - Tehran University of Medical Sciences, Tehran, Iran , Rahmani, Parisa Department of Pediatrics - School of Medicine - Tehran University of Medical Sciences, Tehran, Iran , Yarali, Bahram Department of Pediatrics - School of Medicine - Tehran University of Medical Sciences, Tehran, Iran , Gorji, Mojtaba Department of Pediatrics - School of Medicine - Tehran University of Medical Sciences, Tehran, Iran , Gharib, Behdad Department of Pediatrics - School of Medicine - Tehran University of Medical Sciences, Tehran, Iran
Abstract :
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.
