A case of ataxia telangiectasia

J Korean Neurol Assoc > Volume 15(4); 1997 > Article

Journal of the Korean Neurological Association 1997;15(4): 895-899.

혈관확정성 운동실조증 1례

강동화, 안성신, 전범석

서울대학병원 신경과

A case of ataxia telangiectasia

Dong-Wha Kang, M.D., Sung-Shin Ahn, M.D., Beom S. Jeon, M.D.

Department of Neurology, Seoul National University Hospital

Abstract

Ataxia telangiectasia is an autosomal recessive disorder characterized by progressive cerebellar degeneration, cancer predisposition, immune defects, radiosensitivity and genetic instability. Ataxia telangiectasia is rare and has not been reported in Korea. We present a 9-year-old girl with early onset progressive cerebellar ataxia. Neurologic examination showed gaze apraxia, bulbar dysfunction, retained tendon reflexes and conjunctival telangiectasia. Alpha-feto protein was elevated and serum IgA was decreased. Brain MRI showed prominent cerebellar atrophy. Literatures were reviewed.

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