معرفي دوخواهر مبتلا به سندرم مياستني مادرزادي

Two Sisters with Congenital Myasthenic Syndrome: Case Report

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.