PDF(Pubmed)
Abstract：
Hereditary sensory and autonomic neuropathy type IV (HSAN) is a rare and debilitating disorder highlighted by congenital absence of pain and anhidrosis. Orthopedic sequelae include physeal fractures, Charcot joint development, excessive joint laxity, soft tissue infections and recurrent painless dislocations, all of which often present in a delayed fashion. While there is no accepted guideline on management of these patients, several case studies have highlighted the importance of early diagnosis and cautioned against surgical intervention in these patients due to their inability to perceive pain and comply with post-operative restriction. The purpose of this case report is to present the clinical course of a patient with HSAN IV and the unique orthopedic challenges it presented. While some of her orthopedic injuries healed appropriately following treatment, others have gone on to have devastating complications and progressive joint destruction. Level of Evidence: IV.
摘要：
遗传性感觉和自主神经病变IV型（HSN）是一种罕见且使人衰弱的疾病，其特征是先天性无疼痛和无汗症。骨科后遗症包括骨折，Charcot联合开发,关节过度松弛，软组织感染和复发性无痛脱位，所有这些都经常出现在一个延迟的方式。虽然没有关于这些患者的管理的公认指南，一些病例研究强调了早期诊断的重要性,并告诫这些患者不要进行手术干预,因为他们无法感知疼痛并遵守术后限制.本病例报告的目的是介绍HSANIV患者的临床过程及其所面临的独特骨科挑战。虽然她的一些骨科创伤在治疗后得到了适当的愈合，其他人则出现了毁灭性的并发症和进行性关节破坏。证据等级：IV。
