A case of ataxia telangiectasia

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.