Mobius 증후군 2예

Abstract

Mobius syndrome is a rare congenital disorder characterlzed by facial diplegia and bilateral abducens palsy, which occasionally combinds with other cranial nerve dysfunction, cardiac anomalies, endocrinopathy. Myopathy, peripheral neuropathy and skeletal abnormalities. We report 2 cases of Mobius syndrome; A 6 year old boy showing delayed development, musculo-skeletal anomaly, hypoglossal dysfunction, carpal tunnel syndrome and mild endocrinologic dysfunction, and a 23 year-old lady with only questionable endocrine dysfunction. MRI scans of brain and brainstem are normal and there is no definite electrophysiological evidence of dysfunctions in brainstem on evoked potential blink reflex study. Mental functions look normal in both cases.