Spinocerebellar Atrophy Type-3 with Chiari Malformation in a Young Man: A Case Report

一例伴有小脑扁桃体下疝畸形的青年男性脊髓小脑萎缩3型病例报告

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Abstract

INTRODUCTION: Chiari malformations are a group of congenital anomalies which involve the hindbrain and the cervical spinal canal. CASE PRESENTATION: Here, we describe a patient who presented with acute diplopia and gait unsteadiness which was first deigned with Chiari malformation type-1. However due to progression of the ataxia the full neurologic evaluation was considered which established the diagnosis of spinocerebellar ataxia type 3 (Machado-Joseph-Disease). CONCLUSION: We aim to highlight the importance of careful examination in order to avoid misdiagnosis of even rare diseases.

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