Charcot neuroarthropathy due to Congenital Insensitivity to Pain With Anhidrosis: A case report and literature review

Abstract

Background Charcot neuroarthropathy (CN) is a systemic disorder characterized by pathological changes in the musculoskeletal system, leading to fractures, dislocations, and deformities of multiple bones and joints. While diabetes mellitus, leprosy, sickle cell disease, poliomyelitis, and chronic alcoholism are common underlying causes of CN, it has also been associated with Congenital insensitivity to pain with anhidrosis (CIPA). Nevertheless, there are fewer reports of such diseases and a single treatment modality. This paper presents a case of a a 13-year-old girl diagnosed with bilateral Charcot neuroarthropathy combined with congenital insensitivity to pain with anhidrosis. This study discusses the pathophysiology, diagnostic and therapeutic approaches and reviews the relevant literature. Case presentation We reported a case of a 13-year-old girl with Charcot neuroarthropathy (CN) of the left knee joint, which was secondary to congenital insensitivity to pain with anhidrosis (CIPA). She suffered an unexplained fracture of the left phalanx 2 months after birth, and subsequently, multiple fractures occurred repeatedly throughout her body, primarily in the weight-bearing bones of the lower limbs. Two years prior to presentation, she experienced recurrent swelling of the left knee joint after hiking. Since that episode, her left knee joint continued to swell repeatedly. We established arthroscopic approaches to the left knee, debrided the hyperplastic synovial tissue, opened the joint capsule at the posterior aspect of the knee joint, removed the posterior loose body of the medial femoral condyle with a medullary forceps, and then debrided the damaged cartilaginous surface and intra-articular debris with a paring knife. At present, the overall treatment outcome is satisfactory, and she remains under follow-up observation. Conclusions Adolescent patients can be treated with good outcomes after undergoing left knee arthroscopy. Understanding the potential determinants, health risks, and complications associated with CIPA progression helps surgeons make informed decisions for their patients. Currently, the overall treatment outcome is satisfactory, and she is still under follow-up observation.