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两名先天性无痛无汗症患者的陈旧性骨折:影像学表现。

Old fractures in two patients with congenital insensitivity to pain with anhidrosis: radiological findings.

机构信息

Institute of Clinical Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.

出版信息

Clin Imaging. 2013 Jul-Aug;37(4):788-90. doi: 10.1016/j.clinimag.2013.01.016. Epub 2013 Mar 9.

DOI:10.1016/j.clinimag.2013.01.016
PMID:23478071
Abstract

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disease that is characterized by anhidrosis, insensitivity to noxious stimuli, and mental retardation. Patients who suffer from CIPA easily sustain injuries due to pain insensitivity. Radiological findings in two CIPA patients revealed several old fractures of which the patients were unaware of previous injury. An early diagnosis of CIPA is important for the prevention and treatment of various complications. Our data indicate that radiological findings may provide important information for the diagnosis of CIPA.

摘要

先天性无痛无汗症(CIPA)是一种罕见的常染色体隐性遗传病,其特征为无汗、对有害刺激无反应和智力迟钝。患有 CIPA 的患者由于对疼痛不敏感,很容易受伤。两名 CIPA 患者的放射学检查结果显示存在多处陈旧性骨折,而这些骨折患者之前并不知道。早期诊断 CIPA 对于预防和治疗各种并发症非常重要。我们的数据表明,放射学发现可能为 CIPA 的诊断提供重要信息。

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