J Pak Med Assoc. 2025 Jun;75(6):984-987. doi: 10.47391/JPMA.11450.
ABSTRACT
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.
PMID:40698480 | DOI:10.47391/JPMA.11450
