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一名黏脂贮积症III型患者的自残行为。

Self-mutilation in a patient with mucolipidosis III.

作者信息

Zammarchi E, Savelli A, Donati M A, Pasquini E

机构信息

Department of Paediatrics, University of Florence, Italy.

出版信息

Pediatr Neurol. 1994 Jul;11(1):68-70. doi: 10.1016/0887-8994(94)90096-5.

Abstract

An 8-year-old girl with mucolipidosis III had self-mutilation of the distal phalanges of the second and third digits of her hands. She had neurophysiologic evidence of carpal tunnel syndrome, and consequent insensitivity to pain, which could explain the self-mutilation. Self-mutilation has not been previously described in lysosomal diseases in which carpal tunnel syndrome is frequently observed.

摘要

一名患有Ⅲ型黏脂贮积症的8岁女孩出现双手第二和第三指远端指骨自残行为。她有腕管综合征的神经生理学证据,以及由此导致的痛觉迟钝,这可以解释自残行为。自残此前尚未在经常观察到腕管综合征的溶酶体疾病中被描述过。

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