ﺳﻨﺠﺮﻱ ﺳﻠﻄﺎﻥ ﻣﺼﻄﻔﻲ ﺩﮐﺘﺮ‐ ﻣﺎﺩﺭﺯﺍﺩﻱ ﻣﻴﺎﺳﺘﻨﻲ ﺳﻨﺪﺭﻡ ﺑﻪ ﻣﺒﺘﻼ ﺧﻮﺍﻫﺮ ﺩﻭ ﻣﻌﺮﻓﻲ ٦٣٧ Two Sisters with Congenital Myasthenic Syndrome: Case Report Soltan Sanjari M, MD; Bahmani Kashkoli B, MD; Parvaresh MM, MD Purpose: To report two sisters with congenital myasthenic syndrome (CMS) masquerading as myasthenia gravis. Patients and findings: Two six and seven years old sisters presented with variable strabismus, ptosis, and fatigue. All symptoms were aggravated with exercise and improved with rest. Intramuscular prostigmin injection decreased their symptoms. A diagnosis of CMS was made according to early onset (infancy), familial pattern, and lack of serum antibodies. Oral neostigmin was begun for treatment. Conclusion: Although CMS is a rare disorders, they should be considered in all cases with variable strabismus and ptosis. Key words: congenital myasthenic syndrome, case report • Bina J Ophthalmol 2005; 10 (5): 637-640. ﺑﻪ ﻣﺒﺘﻼ ﺧﻮاهﺮ دو ﻣﻌﺮﻓﻲ ﻣﺎدرزادي ﻣﻴﺎﺳﺘﻨﻲ ﺳﻨﺪرم ﺳﻠﻄﺎن ﻣﺼﻄﻔﻲ دآﺘﺮ ﺳﻨﺠﺮي ١ ، آﺸﻜﻮﻟ ﺑﻬﻤﻨﻲ ﻣﺤﺴﻦ دآﺘﺮ ﻲ ٢ و ﭘﺮورش ﻣﺤﻤﺪﻣﻬﺪي دآﺘﺮ ٢ ﭼﻜﻴﺪﻩ هﺪف: ﮔﺮﺍ ﻣﻴﺎﺳﺘﻨﻲ ﺑﻪ ﻣﺸﺎﺑﻪ ﺗﻈﺎﻫﺮﺍﺗﻲ ﺑﺎ ﻣﺎﺩﺭﺯﺍﺩﻱ ﻣﻴﺎﺳﺘﻨﻲ ﺳﻨﺪﺭﻡ ﺑﻪ ﻣﺒﺘﻼ ﺧﻮﺍﻫﺮ ﺩﻭ ﮔﺰﺍﺭﺵ ﻭ. ﻣﻌﺮﻓﻲ: ﺧﻮﺍﻫﺮ ﺩﻭ٦ ﻭ٧ ﻭ ﺍﺳﺘﺮﺍﺑﻴﺴﻢ ﺑﺎ ﺳﺎﻟﻪ ﭘﻠﮑﻲ ﺍﻓﺘﺎﺩﮔﻲ ﻣﺘﻨﺎﻭﺏ ﻧﻤﻮﺩﻧﺪ ﻣﺮﺍﺟﻌﻪ ﻣﻌﺎﻳﻨﻪ ﺩﺭ ﻛﻪ، ﻓﻌﺎﻟﻴﺖ ﺍﺯ ﺑﻌﺪ ﺧﺴﺘﮕﻲ ﺩﺍﺷﺘﻨﺪ ﻧﻴﺰ. ﻫﻤﻪ ﻋﻼ ﻳ ﺁﻥ ﻢ ﻓﻌﺎﻟﻴﺖ ﻭ ﺧﺴﺘﮕﻲ ﺑﺎ ﻫﺎ، ﺗ ﻣﻲ ﺸﺪﻳﺪ ﺷﺪﻧﺪ ﻣﻲ ﺑﻬﺒﻮﺩ ﺍﺳﺘﺮﺍﺣﺖ ﺍﺯ ﺑﻌﺪ ﻭ ﻳﺎﻓﺘ ﻨﺪ. ﺑﻴﻤﺎﺭ ﺩﻭ ﻫﺮ ﺩﺭ، ﻋﻼ ﺷﺪﻥ ﺑﺮﻃﺮﻑ ﺳﺒﺐ ﺗﺰﺭﻳﻘﻲ ﭘﺮﻭﺳﺘﻴﮕﻤﻴﻦ ﻳ ﺷﺪ ﻢ. ﻭ ﺷﻴﺮﺧﻮﺍﺭﮔﻲ ﺩﺭ ﺷﺮﻭﻉ ﺑﻪ ﺗﻮﺟﻪ ﺑﺎ ﺧﺎﻧﻮ ﺍﺩﮔﻲ ﻓﻘﺪﺍﻥ ﻭ ﺁﻥ ﺑﻮﺩﻥ ﻭﺟﻮﺩ ﺑﺮ ﻣﺒﻨﻲ ﺷﻮﺍﻫﺪﻱ ﭘﺎﺩﺗﻦ ﻫﺎ ﺗﺸﺨﻴﺺ، ﻣﺎﺩﺭﺯﺍﺩﻱ ﻣﻴﺎﺳﺘﻨﻲ ﺳﻨﺪﺭﻡ ﻧﺌﻮﺳﺘﻴﮕﻤﻴﻦ ﺑﺎ ﺩﺭﻣﺎﻥ ﻭ ﮔﺮﺩﻳﺪ ﻣﻄﺮﺡ ﺑﻴﻤﺎﺭﺍﻥ ﺑﺮﺍﻱ ﻋﻼ ﺑﻬﺒﻮﺩ ﺳﺒﺐ ﺧﻮﺭﺍﻛﻲ ﻳ ﺷﺪ ﻢ. ﻧﺘﻴﺠﻪ ﮔﻴﺮي: ﻣﺎﺩﺭﺯﺍﺩﻱ، ﻣﻴﺎﺳﺘﻨﻲ ﺳﻨﺪﺭﻡ ﻧﺎﺩﺭﻱ ﺑﻴﻤﺎﺭﻱ ﭼﻪ ﮔﺮ ﺍﺳﺖ ﺑ ﻭﻟﻲ ﻪ ﻣﺘﻔﺎﻭﺕ ﺩﺭﻣﺎﻥ ﺑﻪ ﭘﺎﺳﺦ ﻭ ﺑﺎﻟﻴﻨﻲ ﺳﻴﺮ ﻋﻠﺖ ﺑﺎ ﻣﻴﻮﭘﺎﺗﻲ ﺩﻳﮕﺮ ﻭ ﮔﺮﺍﻭ ﻣﻴﺎﺳﺘﻨﻲ ﻣﻮﺍﺭﺩ ﺩﺭ ﺑﺎﻳﺪ ﻫﺎ، ﭘﻠﮏ ﺍﻓﺘﺎﺩﮔﻲ ﺍﺳﺘﺮﺍﺑ ﻭ ﻴ ﺴﻢ ﻣﺘﻐﻴﻴﺮ ﻫﺎﻱ، ﺩﺭ ﻓﻬﺮﺳﺖ ﺗﺸﺨﻴﺺ ﺍﻓﺘﺮﺍﻗﻲ ﻫﺎ ﮔﻴﺮﺩ ﻗﺮﺍﺭ. • ﭼﺸﻢ ﻣﺠﻠﻪ ﺑﻴﻨﺎ ﭘﺰﺷﮑﻲ١٣٨٤ ﺳﺎﻝ ؛١٠ ﺷﻤﺎﺭﻩ، ٥ : ٦٤٠ ‐ ٦٣٧ . • ﭘﺎﺳﺦ ﮔﻮ: ﺳﻠﻄﺎﻥ ﻣﺼﻄﻔﻲ ﺩﻛﺘﺮ ﺳﻨﺠﺮﻱ) email: msoltansanjari@yahoo.com ( ١ ﺍﺳﺘﺎﺩﻳﺎ ـ ﺭ‐ ﭼﺸﻢ ﭘﺰﺷﮏ‐ ﺍﻳﺮﺍﻥ ﭘﺰﺷﻜﻲ ﻋﻠﻮﻡ ﺩﺍﻧﺸﮕﺎﻩ ﻣﻘﺎﻟﻪ ﺩﺭﻳﺎﻓﺖ ﺗﺎﺭﻳﺦ: ١٤ ﺍﺭﺩﻳﺒﻬﺸﺖ١٣٨٣ ٢ ‐ ﺩﺍﻧﺸﻴﺎﺭ‐ ﭼﺸﻢ ﭘﺰﺷﮏ‐ ﺍﻳﺮﺍﻥ ﭘﺰﺷﻜﻲ ﻋﻠﻮﻡ ﺩﺍﻧﺸﮕﺎﻩ ﻣﻘﺎﻟﻪ ﺗﺎﻳﻴﺪ ﺗﺎﺭﻳﺦ: ١ ﺁﺫﺭ١٣٨٣ * ﺗﻬﺮﺍﻥ‐ ﺳﺘﺎﺭﺧﺎﻥ ﺧﻴﺎﺑﺎﻥ‐ ﻧﻴﺎﻳﺶ ﺧﻴﺎﺑﺎﻥ‐ ﺍﻛﺮﻡ ﺭﺳﻮﻝ ﺣﻀﺮﺕ ﺑﻴﻤﺎﺭﺳﺘﺎﻥ) ﺹ( ‐ ﭼﺸﻢ ﺗﺤﻘﻴﻘﺎﺕ ﻣﺮﻛﺰ Downloaded from binajournal.org at 1:56 +0330 on Thursday November 25th 2021