Hereditary sensory neuropathy with spastic paraplegia

被引:6
作者
Kherbaoui-Redouani, L
Ploton, D
Abely, M
Bednarek, N
Stourbe, A
Sabouraud, P
Motte, J
机构
[1] CHU, Amer Mem Hosp, Serv Pediat A, Unite Neuropediat,Dept Pediat, F-51092 Reims, France
[2] Univ Hosp Reims, Dept Mol Biol & Pathol, Reims, France
关键词
hereditary sensory neuropathy; spastic paraplegia; histamine test;
D O I
10.1016/j.ejpn.2003.12.006
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We report the case of a 4-year-old boy with hereditary sensory neuropathy manifesting as insensitivity to pain in all four limbs and associated with spastic paraplegia. The patient was referred with multiple injuries to his fingers suggestive of setf-mutilation and attributed to psychiatric disturbance. Clinical examination corrected the diagnosis by revealing insensitivity to pain in all four limbs associated with spastic paraplegia. The histamine test reaction was positive, nerve biopsy and etectrophysiotogical investigations confirmed sensory nerve involvement and the diagnosis of hereditary sensory neuropathy. Classification and treatment of such rare diseases is difficult and a multidisciplinary approach is often necessary. (C) 2004 European Journal of Paediatric Neurology. Published by Elsevier Ltd. All rights reserved.
引用
收藏
页码:95 / 99
页数:5
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