Congenital Insensitivity to Pain: A Case Study of a Rare Genetic Disorder

Congenital insensitivity to pain (CIP) is an exceedingly rare autosomal recessive condition caused by SCN9A Nav1.7 loss-of-function mutations. We present a case of a patient with clinical symptoms compatible with CIP who had a homozygous SCN9A probable pathogenic variation, which results in a premature stop codon. According to the recommendations of the American College of Medical Genetics and Genomics, it is classified as probable pathogenic (class 2). Early detection and treatment may aid in reducing mortality and morbidity as the signs and symptoms of CIP with dysmorphic features manifest early, typically at birth or during infancy. However, with careful medical attention, affected individuals can have longer life expectancies.