All issues > Volume 44(9); 2001

Case Report

J Korean Pediatr Soc. 2001;44(9):1057-1061. Published online September 15, 2001.

A Case of Hereditary Motor and Sensory Neuropathy Type III

Su Hyun SH Cho¹, Soo-Jin SJ Kim¹, Young-Hoon YH Kim¹, Yun Tae YT Kim², Yoon-Kyung YK Lee¹, Dong-Un DU Kim¹, Seung-Hoon SH Han¹, Seung-Yun SY Chung¹, In-Goo IG Lee¹, Kyung-Tai KT Whang¹, Je Geun JG Chi³

¹Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea
²Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
³Department of Pathology, Seoul National University, College of Medicine, Seoul, Korea

Abstract

Hereditary motor and sensory neuropathy type III, which is also known as Dejerine-Sottas disease, is a severe demyelinating polyneuropathy which presents from birth or infancy, and is sometimes presented as a hypotonic or floppy infant. The disease is inherited autosomal recessively and includes clinical findings of generalized muscle weakness and atrophy, with the greatest severity in distal limb muscles, areflexia, and sensory loss. The disease is characterized histologically by segmental demyelination, remyelination of the peripheral nerves, and onion bulb formations. We experienced a 12-month-old girl with delayed development, frequent respiratory infection and pes cavus. We report this case with a review of related literature.

Keywords :Peripheral neuropathy, Hereditary motor and sensory neuropathy type III, Sural nerve biopsy