Giant Axonal Neuropathy

Abstract

A 6-year-old Japanese boy with curly hair since birth appeared to be normal until age 3, when his gait became clumsy. At age 5, pes equinus appeared bilaterally. At age 6, clumsiness in buttoning and writing was detected. Although he could stand up with¬ out assistance of the upper extremities, he could only climb stairs step by step. Examination on admission at age 6Vs> years disclosed weakness and atrophy of the legs. Gait was waddling and unsteady, and he could not walk on heel or toe or in tandem fashion. Vibratory sense was reduced in the legs. Muscle stretch reflexes