Amin Zubair, Saeed Humza, Naufil Syed Imam, Saba Sadaf, Imtiaz Abdullah, Akhlaq Syed Hassan, Ahmad Muhammad Husnain, Ali Masab
Department of Internal Medicine Rawalpindi Medical University Rawalpindi Pakistan.
Department of Orthopedics Benazir Bhutto Hospital Rawalpindi Pakistan.
Clin Case Rep. 2024 Dec 15;12(12):e70004. doi: 10.1002/ccr3.70004. eCollection 2024 Dec.
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder because of NTRK1 gene mutations, leading to an inability to perceive pain and temperature and lack of sweating. Its rarity and unique clinical challenges, such as severe injuries from the inability to sense pain, make reporting cases critical. A 5-year-old boy, the third child of consanguineous parents, was referred for a fractured femur. His history includes recurrent fevers, pain insensitivity, self-mutilation, and anhidrosis with compensatory hyperhidrosis. Examination showed multiple ulcers, dry skin, missing digits, dental issues, and corneal ulcers. The neurological assessment confirmed loss of pain and temperature sensation. Genetic testing confirmed NTRK1 mutations, diagnosing CIPA. The femur fracture was treated with a hip spica cast, and injury prevention and temperature management were advised to the parents. This case underscores the importance of early diagnosis and comprehensive management of CIPA, highlights the need for genetic counseling for at-risk families, and provides insights into managing the condition's complex challenges. A multidisciplinary approach is essential to improve patient outcomes and quality of life.
先天性无痛觉伴无汗症（CIPA）是一种罕见的常染色体隐性疾病，由NTRK1基因突变引起，导致无法感知疼痛和温度且不出汗。其罕见性以及独特的临床挑战，如因无法感知疼痛而造成的严重损伤，使得病例报告至关重要。一名5岁男孩，是近亲结婚父母的第三个孩子，因股骨骨折前来就诊。他的病史包括反复发热、痛觉缺失、自残行为以及无汗伴代偿性多汗。检查发现多处溃疡、皮肤干燥、手指缺失、牙齿问题和角膜溃疡。神经学评估证实痛觉和温度觉丧失。基因检测证实存在NTRK1突变，确诊为CIPA。股骨骨折采用髋人字石膏固定治疗，并向家长建议了预防损伤和体温管理措施。该病例强调了CIPA早期诊断和综合管理的重要性，突出了对高危家庭进行遗传咨询的必要性，并为应对该疾病复杂挑战提供了见解。多学科方法对于改善患者预后和生活质量至关重要。
