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A Case of Hereditary Motor and Sensory Neuropathy Type III

Journal of the Korean Pediatric Society 2001;44(9):1057-1061.
Published online September 15, 2001.
A Case of Hereditary Motor and Sensory Neuropathy Type III
Su Hyun Cho1, Soo-Jin Kim1, Young-Hoon Kim1, Yun Tae Kim2, Yoon-Kyung Lee1, Dong-Un Kim1, Seung-Hoon Han1, Seung-Yun Chung1, In-Goo Lee1, Kyung-Tai Whang1, Je Geun 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
제 3형 유전성 운동 감각 신경병증(Hereditary Motor and Sensory Neuropathy Type III) 1례
조수현1, 김수진1, 김영훈1, 김윤태2, 이윤경1, 김동언1, 한승훈1, 정승연1, 이인구1, 황경태1, 지제근3
1가톨릭대학교 의과대학 소아과학교실
2가톨릭대학교 의과대학 재활의학과교실
3서울대학교 의과대학 병리학교실
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.
Key Words: Peripheral neuropathy, Hereditary motor and sensory neuropathy type III, Sural nerve biopsy


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