A Case of Hereditary Motor and Sensory Neuropathy Type III.
- Author:
Su Hyun CHO
1
;
Soo Jin KIM
;
Young Hoon KIM
;
Yun Tae KIM
;
Yoon Kyung LEE
;
Dong Un KIM
;
Seung Hoon HAN
;
Seung Yun CHUNG
;
In Goo LEE
;
Kyung Tai WHANG
;
Je Geun CHI
Author Information
1. Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Peripheral neuropathy;
Hereditary motor and sensory neuropathy type III;
Sural nerve biopsy
- MeSH:
Atrophy;
Demyelinating Diseases;
Extremities;
Female;
Foot Deformities;
Hereditary Sensory and Motor Neuropathy*;
Humans;
Infant;
Muscle Weakness;
Muscles;
Onions;
Parturition;
Peripheral Nerves;
Peripheral Nervous System Diseases;
Polyneuropathies
- From:Journal of the Korean Pediatric Society
2001;44(9):1057-1061
- CountryRepublic of Korea
- Language:Korean
-
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.
