Catastrophic results due to unrecognizing of congenital insensitivity to pain with anhidrosis in children with multiple long bones fractures: A case report of 27 years follow-up of two siblings

Introduction: Congenital insensitivity to pain with anhidrosis (CIPA; OMIM 256,800) is a rare autosomal recessive disease. Although the clinical symptoms are known, the consensus of CIPA treatment has not been recognized. This is the first report of CIPA in Indonesia, a case of two siblings, male and female, whom we followed-up for 27 years.

Presentation of case: After a series of multiple fractures from an early age, both patients who lived wheelchair-bound with their parents had been suffering from a recurrent debilitating infection on their lower extremities. The male patient eventually died from sepsis due to bronchopneumonia, years after the nonunion of both legs. The female patient underwent double above knee amputation.

Discussion: Observation showed that fracture in joint and metaphysis treated with open reduction ultimately end in disastrous outcomes like infection and non-union. On the contrary, the diaphyseal fracture has a better expectation to unite with casting immobilization.

Conclusion: Unrecognizing of the clinical pictures of CIPA and minimal literature references in the past, misleads to late diagnosis and management. Genetic evaluation should be done for infants with unknown causes of high fever, anhidrosis combined with insensitivity to pain. Surgical intervention of metaphyseal fractures should be avoided due to tendencies of implants loosening, metal failures, recurrent infections followed with non-union, and instability.

Keywords: Anhidrosis; Case report; Congenital insensitivity of pain; Hyperpyrexia.