دوره 4، شماره 1 - ( 10-1396 )                   جلد 4 شماره 1 صفحات 38-35 | برگشت به فهرست نسخه ها


XML Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Shervin Badv R, Memarian S, Ghahvechi M, Farshad Moghaddam H, Saidi M, Mohsenipour R, et al . A Case Report of Congenital Myasthenia Gravis Presenting With Respiratory Distress. Caspian J Neurol Sci 2018; 4 (1) :35-38
URL: http://cjns.gums.ac.ir/article-1-218-fa.html
A Case Report of Congenital Myasthenia Gravis Presenting With Respiratory Distress. مجله علوم اعصاب کاسپین. 1396; 4 (1) :35-38

URL: http://cjns.gums.ac.ir/article-1-218-fa.html


چکیده:   (3644 مشاهده)
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.
متن کامل [PDF 688 kb]   (1534 دریافت) |   |   متن کامل (HTML)  (1470 مشاهده)  
نوع مطالعه: پژوهشي | موضوع مقاله: تخصصي
دریافت: 1396/3/17 | پذیرش: 1396/6/24 | انتشار: 1396/10/11

فهرست منابع
1. Sarnat HB. Disorders of neuromuscular transmission and of motor neurons. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, Behrman RE, et al., editors. Nelson Textbook of Pediatrics. Philadelphia: Saunders; 2016.
2. Muppidi S, Wolfe GI, Barohn RJ. Diseases of the neuromuscular junction. In: Swaiman KF, Ashwal S, Ferriero DM, Schor NF, editors. Swaiman's Pediatric Neurology. Amsterdam: Elsevier Inc; 2012. [DOI:10.1016/B978-1-4377-0435-8.00094-9]
3. Bodensteiner JB. The evaluation of the hypotonic infant. Semin Pediatr Neurol. 2008; 15(1):10–20. doi: 10.1016/j.spen.2008.01.003 [DOI:10.1016/j.spen.2008.01.003]
4. Romaneli MT das N, Castro CCT de S, Fraga A de MA, Lomazi EA, Nucci A, Tresoldi AT. Evento com aparente risco de morte recorrente como manifestação inicial de síndrome miastênica congênita. Rev Paul Pediatr. 2013; 31(1):121–3. doi: 10.1590/s0103-05822013000100019 [DOI:10.1590/S0103-05822013000100019]
5. Waseem M, Gernsheimer J, Park TK, Jara F, Erickson E. A floppy infant. Int J Case Rep Imag. 2013;4(1):66. doi: 10.5348/ijcri-2013-01-262-cr-16 [DOI:10.5348/ijcri-2013-01-262-CR-16]
6. Lorenzoni PJ, Scola RH, Gervini BL, Kay CSK, Werneck LC. Electrophysiological study in synaptic congenital myasthenic syndrome: End-plate acetylcholinesterase deficiency. Arq Neuropsiquiatr. 2009; 67(2b):502–4. doi: 10.1590/s0004-282x2009000300024 [DOI:10.1590/S0004-282X2009000300024]
7. Pyle A, Nightingale HJ, Griffin H, Abicht A, Kirschner J, Baric I, et al. Respiratory chain deficiency in nonmitochondrial disease. Neurol Genet. 2015; 1(1):e6. doi:10.1212/nxg.0000000000000006 [DOI:10.1212/NXG.0000000000000006]
8. Robb SA, Muntoni F, Simonds AK. Respiratory management of congenital myasthenic syndromes in childhood: Workshop 8th December 2009, UCL Institute of Neurology, London, UK. Neuromuscul Disord. 2010; 20(12):833–8. doi: 10.1016/j.nmd.2010.08.002 [DOI:10.1016/j.nmd.2010.08.002]
9. Mihaylova V, Müller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, et al. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. Brain. 2008; 131(3):747–59. doi: 10.1093/brain/awm325 [DOI:10.1093/brain/awm325]

ارسال نظر درباره این مقاله : نام کاربری یا پست الکترونیک شما:
CAPTCHA

بازنشر اطلاعات
Creative Commons License این مقاله تحت شرایط Creative Commons Attribution-NonCommercial 4.0 International License قابل بازنشر است.

کلیه حقوق این وب سایت متعلق به مجله علوم اعصاب کاسپین می باشد.

طراحی و برنامه نویسی : یکتاوب افزار شرق

© 2024 CC BY-NC 4.0 | Caspian Journal of Neurological Sciences

Designed & Developed by : Yektaweb