Congenital indifference to pain: A report of three cases from Pakistan

Abstract

Congenital indifference to pain is a rare disease defined by the failure to react to painful stimuli. Patients often present in early childhood with multiple self-inflicted injuries and damaged dentition. The response to other sensory modalities remains intact. Patients have normal nerve conduction and electromyography, as well as normal nerve biopsy. The disease is diagnosed after excluding congenital insensitivity to pain, fragile X-syndrome, syringomyelia, and pain asymbolia. Early diagnosis can reduce recurrent injuries and avoid unnecessary investigations. Here we present three patients with congenital indifference to pain who were referred to our institute for electrophysiological evaluation and found to have this disease.