Caspian Journal of Neurological Sciences
مجله علوم اعصاب کاسپین
Caspian J Neurol Sci
Literature & Humanities
http://cjns.gums.ac.ir
1
admin
2383-4307
2423-4818
10.32596
en
jalali
1396
10
1
gregorian
2018
1
1
4
1
online
1
fulltext
fa
A Case Report of Congenital Myasthenia Gravis Presenting With Respiratory Distress
تخصصي
Special
پژوهشي
Research
<div style="text-align: justify;">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.</div>
Myasthenia gravis, Congenital, Apnea
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38
http://cjns.gums.ac.ir/browse.php?a_code=A-10-131-8&slc_lang=fa&sid=1
Reza
Shervin Badv
No
Department of Pediatrics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
Sara
Memarian
No
Department of Pediatrics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
Masoud
Ghahvechi
No
Department of Physical Medicine and Rehabilitation, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
Hossein
Farshad Moghaddam
No
Department of Pediatrics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
Maryam
Saidi
No
Department of Pediatrics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
Reihaneh
Mohsenipour
No
Department of Pediatrics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
Parisa
Rahmani
No
Department of Pediatrics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
Bahram
Yarali
No
Department of Pediatrics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
Mojtaba
Gorji
No
Department of Pediatrics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
Behdad
Gharib
behdad_gharib@yahoo.co.uk
Yes
Department of Pediatrics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran