A 9-year-old boy with chronic progressive motor-sensory neuropathy beginning in early infancy and reversed by corticosteroid therapy is reported from the Institute of Neurological Diseases, Hirosaki University School of Medicine, Japan. The parents had noticed an awkward gait and frequent falling after learning to walk at 15 months of age. He was in a wheel chair at examination, and he complained of hand numbness. Limb muscles were severely weakened and atrophied, and intrinisic hand muscles totally paralysed. Pes cavus was bilateral. Tendon reflexes were absent. Nerves at elbows and knees and behind the ears were thickened and enlarged. CSF protein was 68 mg/dl. Biopsy of the sural nerve showed edematous swelling, and loss of myelinated fibers, but only occasional onion bulbs. One week after IV methylpredisolone (25 mg/kg/day) for 3 days, followed by oral prednisolone (2 mg/kg/day), numbness in the hands decreased, and sensation and muscle strength improved. Within four weeks, he was walking alone, and posterior auricular nerves were no longer visible. Comparison of EMG and NCS before and after steroids showed that the extremely slow conduction velocities of 2 m/s had increased to 7 to 16 m/s. [1]
COMMENT. Steroid responsive neuropathy in childhood [2] was cited as the first reference to this disorder.