Greider T D
Clin Orthop Relat Res. 1983 Jan-Feb(172):177-85.
In an 11-year-old girl with congenital insensitivity to pain, diagnosis depended on three diagnostic features: pain sensation absent from birth; entire body affected; all other sensory modalities and deep tendon reflexes present. The cause of this disease is unknown. Other diseases to be considered when insensitivity to pain is present are diabetes, lues, and syringomyelia. Less common neurologic diseases are congenital sensory neuropathy with or without anhidrosis, familial dysautonomia (Riley-Day syndrome), and sensory radicular neuropathy. The three orthopedic manifestations of congenital insensitivity to pain are recurrent fractures, neuropathic (Charcot's) joints, and osteomyelitis. Management is based on proper appreciation of the disease. Prevention of complications is important. Treatment of fractures and osteomyelitis is straightforward. However, the treatment of neuropathic joints demands caution and is done best nonsurgically.
在一名对疼痛先天性不敏感的11岁女孩中,诊断取决于三个诊断特征:自出生起就没有痛觉;全身受累;所有其他感觉方式和深腱反射均存在。这种疾病的病因尚不清楚。当出现疼痛不敏感时,需要考虑的其他疾病有糖尿病、梅毒和脊髓空洞症。较罕见的神经系统疾病有先天性感觉神经病(伴或不伴无汗症)、家族性自主神经功能障碍(赖利-戴综合征)和感觉神经根神经病。先天性对疼痛不敏感的三种骨科表现为反复骨折、神经性(夏科氏)关节和骨髓炎。治疗基于对该疾病的正确认识。预防并发症很重要。骨折和骨髓炎的治疗很简单。然而,神经性关节的治疗需要谨慎,最好采用非手术治疗。