Aslan D, Sarikayalar F
Hacettepe University, School of Medicine, Ankara, Turkey.
Cutis. 1997 Oct;60(4):188-90.
Congenital insensitivity to pain with anhidrosis is one of a group of rare diseases termed hereditary sensory-motor neuropathies. Primary clinical features of this entity include congenital analgesia, inability to sweat, and mental retardation. Besides the rarity of these clinical entities, difficulty in evaluating the sensory disturbances, especially in small children, makes the diagnosis a clinical problem. In this article a 3-year-old boy, with consanguineous parents and no family history of the disorder, who was evaluated for two years because of ulcerating lesions on his knees, is presented. Physical examination revealed deep ulceration on his knees and scars from burns on his neck and scalp. Moderate mental retardation and analgesia were noted. There was symmetrical loss of pain and touch sensation on his hands and feet. Electromyographic examination showed absence of action potentials of the ulnar and sural nerves, decrease in the sensory and motor nerve conduction velocities, and amplitude of action potentials. The result of the application of pilocarpine showed anhidrosis. His skin and nerve biopsy specimens were also examined.
先天性无痛觉伴无汗症是一组被称为遗传性感觉运动神经病的罕见疾病之一。该病症的主要临床特征包括先天性痛觉缺失、无汗能力以及智力发育迟缓。除了这些临床病症罕见之外，评估感觉障碍存在困难，尤其是在幼儿中，这使得诊断成为一个临床难题。本文介绍了一名3岁男孩，其父母为近亲结婚且家族中无该病症病史，因膝盖溃疡病变接受了两年的评估。体格检查发现其膝盖有深度溃疡，颈部和头皮有烧伤疤痕。存在中度智力发育迟缓和痛觉缺失。双手和双脚的痛觉和触觉对称丧失。肌电图检查显示尺神经和腓肠神经动作电位缺失，感觉和运动神经传导速度以及动作电位幅度降低。毛果芸香碱应用结果显示无汗。还对其皮肤和神经活检标本进行了检查。
