先天性无痛觉伴无汗症：一例自残性口腔溃疡病例

Congenital Insensitivity to Pain with Anhidrosis: A Case with Self-Inflicted Oral Ulcerations.

作者信息

Soussou Randa, Cheung Wa Sham, Campbell Karen M

机构信息

Dr. Soussou is an attending pediatric dentist, British Columbia Children's Hospital and a clinical assistant professor, Department of Oral and Health Sciences, Faculty of Dentistry, University of British Columbia, Canada.

Dr. Cheung is interim chief of Dentistry, British Columbia Children's Hospital and clinical associate professor, Department of Oral and Health Sciences, Faculty of Dentistry, University of British Columbia, both in Vancouver, Canada;, Email:

出版信息

J Dent Child (Chic). 2019 May 15;86(2):109-112.

PMID:31395116

Abstract

Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV, is a rare autosomal recessive condition. CIPA is caused by mutations in the NTRK1 gene, leading to the inability to feel pain and decreased or absent sweating (anhidrosis). The signs and symptoms of CIPA may not be easily diagnosed at birth, but repeated severe injuries or unintentional self-injurious behavior during infancy may prompt further investigation leading to a CIPA diagnosis. We present the case of an 18-month old child who was diagnosed with CIPA, after repeated visits to a hopsital's emergency department for serious tongue and finger biting, which prompted further investigation.

摘要

先天性无痛觉伴无汗症（CIPA），也称为遗传性感觉和自主神经病变IV型，是一种罕见的常染色体隐性疾病。CIPA由NTRK1基因突变引起，导致无法感知疼痛以及出汗减少或无汗（无汗症）。CIPA的体征和症状在出生时可能不易诊断，但婴儿期反复出现的严重损伤或无意的自我伤害行为可能促使进一步检查，从而确诊CIPA。我们报告一例18个月大的儿童，该儿童因反复前往医院急诊科就诊，原因是严重咬伤舌头和手指，这促使了进一步检查，最终被诊断为CIPA。