Abstract
BACKGROUND: Congenital insensitivity to pain with anhidrosis is a rare but devastating hereditary disease. Congenital insensitivity to pain with anhidrosis is caused by a mutation in the neurotrophic receptor tyrosine kinase 1 gene (NRTK1). The condition is characterized by multiple injuries, recurrent infections, and mental retardation. CASE PRESENTATION: A 7-year-old Kurdish female patient, with a known case of congenital insensitivity to pain with anhidrosis, presented with a left tibial fracture, complicated by incorrect healing, osteomyelitis, and pseudoarthrosis spanning over a number of years. The osteomyelitis and pseudoarthrosis eventually healed after treatment with a combination of a long course of antibiotics, CERAMENT with gentamicin, and 40 sessions of hyperbaric oxygen treatment at 2.4 bar, 113 minutes with two air breaks. This is the first reported case of using hyperbaric oxygen treatment in children with congenital insensitivity to pain with anhidrosis. We discuss potential mechanistic explanations of the association between healing and hyperbaric oxygen treatment. CONCLUSION: Hyperbaric oxygen treatment may be considered in other cases of complicated infections or treatment-resistant pseudoarthrosis in patients with this rare disease.