先天性无汗性疼痛不敏感综合征;一个罕见的遗传疾病病例故事

Zahra Nafei, Marjan Jafari
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引用次数: 0

摘要

先天性对疼痛不敏感伴无汗症(CIPA)是遗传性感觉和自主神经病变(HASN IV)的第四亚型,由NTRK1基因缺陷引起,并在生命早期出现。我们报告了一个十岁的男孩,他有步态问题,无法给脚增加重量。在访问的四天前,他的右膝在一场足球比赛中受伤。他的右膝有肿胀和红斑,躯干和四肢有多处疤痕。磁共振成像(MRI)显示骨髓炎和软组织骨膜脓肿。患者接受了手术,根据病理结果,报告了骨化性肌炎(MO)。此外,他接受了抗生素和支持措施的治疗,出院后部分康复。据我们所知,这是CIPA综合征儿童因反复创伤而出现MO的首次报告。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Congenital Insensitivity to Pain with Anhidrosis (CIPA) Syndrome; A Rare Genetic Disorder Case Story
Congenital insensitivity to pain with anhidrosis (CIPA) is the subtype four of hereditary sensory and autonomic neuropathy (HASN IV), caused by a defect in the NTRK1 gene and presenting early in life. We report a ten-year-old boy with gait problems and an inability to put weight on his feet. Four days before the visit, a trauma entered his right knee during a football match. He had swelling and erythema in his right knee and multiple scars on his torso and limbs. Magnetic resonance imaging (MRI) offered osteomyelitis and soft tissue periosteal abscess. The patient underwent an operation, and based on the pathology results, myositis ossificans (MO) was reported. Moreover, he was treated with antibiotics and supportive measures and was discharged with partial recovery. According to our knowledge, this is the first report of MO due to recurrent trauma in children with CIPA syndrome.
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