先天性疼痛不敏感患者复杂前臂骨折的成功治疗一例报告。

IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL
International Medical Case Reports Journal Pub Date : 2025-05-10 eCollection Date: 2025-01-01 DOI:10.2147/IMCRJ.S514415
Anas Alrusan, Suhaib Bani Essa, Saif Aldin Naif Rawabdeh, Yazan Anaqreh, Modather Hatamleh, Mohammad Alradaideh, Mohammed Baker, Abdelwahab Aleshawi
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引用次数: 0

摘要

背景:先天性疼痛不敏感症(CIPA)是一种极为罕见的综合征,由NTRK基因突变引起。CIPA的特点是反复发作不明原因的发热、感染、骨骼并发症、无汗、智力低下和由于对疼痛刺激缺乏反应而造成的眼部损伤。一些肌肉骨骼并发症已被报道,包括骨折、无血管坏死、关节脱位、软组织和骨感染。这些并发症的严重程度提出了复杂的诊断和治疗困境。需要不同专业的医疗专业人员合作,提供适当的医疗服务。病例介绍:我们报告一个1岁的女孩,诊断为CIPA,住进我们的中心,抱怨伤口出血和发烧,之前修复的左前臂骨折,钉插入,在一次失败的拔钉试验后发现感染。采用麻醉、骨科、眼科、儿科等多学科联合治疗。患者在不使用镇痛药物的适当麻醉方案下成功地进行了除甲、伤口清创和桡骨复位。随访过程很顺利,矫正正确,健康状况稳定,没有明显的骨骼或眼部并发症。结论:本报告报告1例CIPA合并复杂前臂骨折。CIPA患者应提供多学科的保健方法,以提高他们的生活质量和减少并发症的发生率。应及时教育家长和患者。骨科并发症意味着显著的发病率,需要及时的手术干预和密切的随访。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Successful Management of a Complicated Forearm Fracture in a Patient with Congenital Insensitivity to Pain: A Case Report.

Background: Congenital insensitivity to pain (CIPA) is an extremely rare syndrome that is caused by a mutation in the NTRK gene. CIPA is characterized by recurrent episodes of unexplained fever, infections, skeletal complications, anhidrosis, mental retardation, and ocular injuries due to the absence of reaction to painful stimuli. Several musculoskeletal complications have been reported and included fractures, avascular necrosis, joint dislocations, soft tissue, and bone infections. The severity of these complications presented complex diagnostic and therapeutic dilemmas. The collaboration of medical professionals from different specialties to provide appropriate medical care is needed.

Case presentation: We present a case of a 1-year-old girl, diagnosed with CIPA, admitted to our center complaining of wound discharge and fever from a previously repaired left forearm fracture with nail insertion, which was found to be infected after a failed trial of nail removal. A multidisciplinary- management from anesthesia, orthopedics, ophthalmology, and pediatrics was conducted. The patient underwent successful nail removal, wound debridement, and radius bone reduction with the appropriate anesthetic protocol that did not include analgesic medications. The follow-up course was uneventful with proper alignment and virtually stable health status, with no apparent skeletal or ocular complications.

Conclusion: This report shows a case of CIPA with complicated forearm fracture. Patients with CIPA should be afforded a multidisciplinary healthcare approach in order to improve their quality of life and decrease the rate of complications. Parents and patients should be educated promptly. Orthopedics complications imply significant morbidity and require prompt surgical intervention with intense follow-up.

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来源期刊
International Medical Case Reports Journal
International Medical Case Reports Journal MEDICINE, GENERAL & INTERNAL-
CiteScore
1.40
自引率
0.00%
发文量
135
审稿时长
16 weeks
期刊介绍: International Medical Case Reports Journal is an international, peer-reviewed, open access, online journal publishing original case reports from all medical specialties. Submissions should not normally exceed 3,000 words or 4 published pages including figures, diagrams and references. As of 1st April 2019, the International Medical Case Reports Journal will no longer consider meta-analyses for publication.
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