Lin Yi-Pei, Su Yi-Ning, Weng Wen-Chin, Lee Wang-Tso
Departments of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
J Child Neurol. 2010 Dec;25(12):1548-51. doi: 10.1177/0883073810375464. Epub 2010 Jul 20.
Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV) is a rare autosomal recessive disorder caused by a defect in neurotrophic tyrosine kinase receptor and nerve growth factor, as reported in previous studies. This report is of a 6-month-old male infant with typical symptoms and signs of congenital insensitivity to pain with anhidrosis. He had a homozygous insertion mutation with c.2086_2087 ins C of neurotrophic tyrosine kinase receptor type 1 (NTRK1) gene with both parents as heterozygous carriers. This mutation may have a strong relation to hereditary sensory and autonomic neuropathy type IV Taiwanese patients. This is the youngest reported patient in Taiwan and first reported with congenital insensitivity to pain with mutation of NTRK1 gene inherited from the parents. Early diagnosis may provide appropriate medical care and education for these children and their families for better prognosis.
先天性无痛觉伴无汗症（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，如先前研究报道，它由神经营养性酪氨酸激酶受体和神经生长因子缺陷引起。本报告介绍了一名6个月大的男婴，具有先天性无痛觉伴无汗症的典型症状和体征。他的神经营养性酪氨酸激酶受体1（NTRK1）基因存在纯合插入突变c.2086_2087 ins C，其父母均为杂合携带者。这种突变可能与台湾遗传性感觉和自主神经病变IV型患者有密切关系。这是台湾报道的最年轻患者，也是首例报道的因从父母遗传NTRK1基因突变而患先天性无痛觉的患者。早期诊断可为这些儿童及其家庭提供适当的医疗护理和教育，以获得更好的预后。
