Alrusan Anas, Bani Essa Suhaib, Rawabdeh Saif Aldin Naif, Anaqreh Yazan, Hatamleh Modather, Alradaideh Mohammad, Baker Mohammed, Aleshawi Abdelwahab
Department of Anesthesiology, Faculty of Medicine, Jordan University of Science and Technology, Irbid, 21110, Jordan.
Division of Orthopedics, Department of Special Surgery, Faculty of Medicine, Jordan University of Science and Technology, Irbid, 22110, Jordan.
Int Med Case Rep J. 2025 May 10;18:539-543. doi: 10.2147/IMCRJ.S514415. eCollection 2025.
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.
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.
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.
先天性无痛觉（CIPA）是一种极为罕见的综合征，由神经营养酪氨酸激酶（NTRK）基因突变引起。CIPA的特征是反复出现不明原因的发热、感染、骨骼并发症、无汗、智力迟钝以及因对疼痛刺激无反应而导致的眼部损伤。已有数例肌肉骨骼并发症的报道，包括骨折、缺血性坏死、关节脱位、软组织和骨感染。这些并发症的严重程度带来了复杂的诊断和治疗难题。需要不同专业的医学专家协作以提供恰当的医疗护理。
我们报告一例1岁女童，诊断为CIPA，因之前插入髓内钉的左前臂骨折修复术后伤口渗液和发热入住我院。在尝试取出髓内钉失败后，发现伤口感染。我们实施了麻醉科、骨科、眼科和儿科的多学科管理。在未使用镇痛药物的适当麻醉方案下，患者成功取出髓内钉、清创伤口并复位桡骨。随访过程顺利，骨折对位良好，健康状况基本稳定，无明显骨骼或眼部并发症。
本报告展示了一例合并复杂前臂骨折的CIPA病例。对于CIPA患者，应采取多学科医疗方法以改善其生活质量并降低并发症发生率。应及时对家长和患者进行教育。骨科并发症意味着严重的发病率，需要及时进行手术干预并密切随访。
