A 6-year-old girl with progressive ataxia.

摘要

A 6-year-old girl presented with slowly progressive cerebellar ataxia, scanning dysarthria, spasticity and normal mentation. She had generalized areflexia, and axonal polyneuropathy on nerve conduction studies. Her cranial MRI is provided (Fig. 1) as well as a clinical photograph and nerve biopsy findings (Fig. 2).