先天性无痛无汗症（congenital insensitivity to pain with anhidrosis, CIPA）是一种以痛觉丧失、无汗、反复发热、自残、发育迟缓、不同程度的智力低下为主要临床表现的周围神经病，这是一种因编码酪氨酸激酶受体A（tyrosine kinase receptor A, TrkA）蛋白的神经营养因子酪氨酸激酶受体1型（neurotrophic tyrosine kinase receptor type 1, NTRK1）基因失活突变造成的常染色体隐性遗传病。文章报道1例痛觉丧失、无汗、智力低下，外伤后胫骨骨折的先天性无痛无汗症6岁男孩，该患儿仅用七氟醚吸入麻醉即得到了满意的麻醉效果，血流动力学未发生显著波动。
Congenital insensitivity to pain and anhidrosis (CIPA) is a rare peripheral neuropathy characterized by pain insensitivity, anhidrosis, recurrent episodic fevers, self‑mutilation, growth retardation, and mental retardation at various levels. It is an autosomal recessive genetic disorder due to loss‑of‑function mutations in the neurotrophic tyrosine kinase receptor type 1 (NTRK1) gene encoding tyrosine kinase receptor A (TrkA). Most of the patients usually were admitted to hospitals due to accidental injuries such as falls or burns. Here we reported a 6‑year‑old boy with CIPA who presented lack of pain, anhidrosis, mental retardation and tibial fracture. Inhalation anesthesia with sevoflurane alone provides satisfied effects without any hemodynamic instability in the patient.
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