Ayyazuddin Meher, Maqsood Nushra, Khan Saman Shuja, Ali Muhammad, Kakalia Spenta
CMH Lahore Medical College, Lahore, Pakistan. Pakistan.
CMH Lahore Medical College, Lahore, Pakistan.
J Pak Med Assoc. 2025 Jun;75(6):984-987. doi: 10.47391/JPMA.11450.
Congenital Insensitivity to Pain with Anhidrosis (CIPA) is characterised by disruption of sensory neurons caused by genetic mutations in the Neurotrophic Tyrosine Kinase 1 (NTRK1) gene which leads to impaired pain sensation, accompanied by anhidrosis (the inability to sweat) and varying degrees of intellectual disability. Herein, we report a case of CIPA that presented with infection of an amputated left toe, with prior admissions due to various injuries. The patient had no apparent intellectual disability. A general physical examination yielded various scars with a predilection for the elbows, knees, and shins as well as an early loss of teeth (front incisors of the lower jaw). The patient exhibited anhidrosis, a self-injurious behaviour, and an abnormal response to painful stimuli, all of which led to a clinical diagnosis of CIPA.
先天性无痛觉伴无汗症（CIPA）的特征是神经营养性酪氨酸激酶1（NTRK1）基因发生基因突变，导致感觉神经元受损，从而引起痛觉减退，并伴有无汗症（无法出汗）和不同程度的智力残疾。在此，我们报告一例CIPA病例，该患者因左脚趾截肢感染前来就诊，此前曾因各种损伤入院。患者无明显智力残疾。全身体格检查发现多处疤痕，好发于肘部、膝盖和胫骨，以及早期牙齿脱落（下颌前切牙）。患者表现出无汗症、自残行为和对疼痛刺激的异常反应，所有这些均导致CIPA的临床诊断。
