유전성 Olivopontocerebellar Atrophy (Menzel 형, OPCA III )1가족례

Abstract

This is a case report of the familial olivo-ponto-cerebellar atrophy (Menzel type OPCA, OPCA III with retinal degeneration). The patient is a 37 year-old male with 5 years history of slowly progressive cerebellar ataxia, dysarthria, visual change, horizontal nystagmus and signs of pyramidal dysfunction. The CT brain scan shows significant atrophy of brain stem and cerebellum with dilatation of cisterns. His younger sister, also, has similar clinical manifestations and radiological abnormalities, but mild. By history, his mother who died at 47 years of her age looked like to have same kind of chronic disease.