A Case of Peripheral Neuropathy with Ataxic Gait

Abstract

The results of clinical, electrophysiological and histopathological studies in a 6-year-old female with ataxic gait were presented. She had a history of inability to stand with, poor balance since early childhood. Those signs were slowly progressive. Clinical examination revealed ataxic gait, loss of deep tendon reflexes, pes cavus, markedly positive Romberg test and decreased deep sensations, while superficial senses were intact. Electrophysiological examinations showed a marked decrease in MCV and SCV of the ulnar nerve. Sural nerve biopsy showed a moderate loss of total myelinated fibers and a selective loss of large myelinated fibers on microscopic examination. Electronmicroscopic studies showed onion-bulb formation and proliferated collagen fibers. There was no neurological disease in family history and MCV and SCV of her parents and sister were within normal range.
The presented case could be considered as a type of peripheral neuropathy with ataxic gait and was suggested as Roussy-Levy syndrome except negative family history. However further follow up studies are necessary for differentiation of this case from Friedreich's ataxia and Charcot-Marie-Tooth disease.