J Korean Pediatr Soc.
2001 Sep;44(9):1057-1061.
A Case of Hereditary Motor and Sensory Neuropathy Type III
- Affiliations
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- 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.
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