焦禹豪, 田野, 蔡思逸. 先天性无痛无汗症一例[J]. 罕见病研究, 2023, 2(4): 616-625. DOI: 10.12376/j.issn.2097-0501.2023.04.019
引用本文: 焦禹豪, 田野, 蔡思逸. 先天性无痛无汗症一例[J]. 罕见病研究, 2023, 2(4): 616-625. DOI: 10.12376/j.issn.2097-0501.2023.04.019
JIAO Yuhao, TIAN Ye, CAI Siyi. A Case Report of Congenital Insensitivity to Pain with Anhidrosis[J]. Journal of Rare Diseases, 2023, 2(4): 616-625. DOI: 10.12376/j.issn.2097-0501.2023.04.019
Citation: JIAO Yuhao, TIAN Ye, CAI Siyi. A Case Report of Congenital Insensitivity to Pain with Anhidrosis[J]. Journal of Rare Diseases, 2023, 2(4): 616-625. DOI: 10.12376/j.issn.2097-0501.2023.04.019

先天性无痛无汗症一例

A Case Report of Congenital Insensitivity to Pain with Anhidrosis

  • 摘要: 先天性无痛无汗症(CIPA)伴夏科氏关节病是一种罕见的临床综合征,目前对此类患者的治疗经验有限。通过1例长达10年的患者随访,望就手术策略的选择及有关术后并发症方面为临床医生提供新的思路。该例患者确诊为CIPA,并出现了严重的夏科氏关节病,脊柱受累为著。手术治疗后发生了多次术后并发症,包括植入物移位、脊柱邻近节段病变和椎弓根螺钉松动等,后续进行了5次翻修手术。结合文献,在处理CIPA相关夏科氏脊柱关节病的有限经验中,手术矫形仍是首选治疗方法。本文回顾的16例病例中,植入物移位、脊柱邻近节段病变和椎弓根螺钉松动是常见的术后并发症。基于目前经验,不建议大范围切除受损椎体后重建,这可能会增加植入物移位风险;而360°长节段融合可能有助于减少邻近节段病变的风险。此外,本文还讨论了夏科氏脊柱关节病手术后翻修的潜在原因,以及此类手术病例的围术期管理策略。细致的护理、合理的康复锻炼和骨矿物代谢治疗,对于该病的治疗都至关重要。

     

    Abstract: Congenital insensitivity to pain with anhidrosis (CIPA) is associated with Charcot arthropathy and is a rare clinical syndrome, with limited treatment options. Through a decade-long follow-up of a single case, we aim to provide new insights for clinicians regarding the choice of surgical strategies and postoperative complications. The diagnosed patient exhibited congenital insensitivity to pain and anhidrosis, accompanied by severe Charcot arthropathy affecting the spine. Multiple postoperative complications, including implant displacement, adjacent segment pathology, and pedicle screw loosening, occurred after surgical intervention, leading to five subsequent revision surgeries. Considering the limited experience in managing CIPA-related Charcot spinal arthropathy in the literature, surgical correction remains the preferred treatment. Among the 16 cases reviewed, common postoperative complications included implant displacement, adjacent segment pathology, and pedicle screw loosening. Based on current experience, we do not recommend extensive resection and reconstruction after removing the affected vertebral body, as this may increase the risk of implant displacement. Instead, a 360° long-segment fusion may help reduce the risk of adjacent segment degeneration. Additionally, we discuss potential reasons for revision surgery after Charcot spinal arthropathy surgery and perioperative management strategies for such cases. Meticulous care, appropriate rehabilitation exercises, and metabolic therapy for bone mineralization are crucial components of the treatment for this condition.

     

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