517 - Congenital Pain Insensitivity in an Infant due to SCN9A Mutation

Pain insensitivity disorders are uncommon; however, individuals who are pain insensitive are significantly more vulnerable to physical injuries than the average population. Congenital insensitivity to pain (CIP) is an inherited autosomal recessive pattern caused by a mutation in the SCN9A gene, which regulates sodium channel formation. Primary erythromelalgia, paroxysmal extreme pain disorder, and channelopathy-associated insensitivity to physical pain can all be caused by mutations in the SCN9A gene. This case depicts a 24-month-old male infant with a SCN9A gene mutation, which has caused him to purposefully extract his primary teeth, and chew on his tongue and fingers to the point of causing bleeding and visible scarring. There is little information available on the treatment of pain insensitivity disorders; therefore this case discusses the diagnosis, known etiology, and treatment of congenital pain sensitivity.