Recurrent Osteomyelitis in a Paediatric Patient with a Novel NTRK1 Mutation: A Case Report on Congenital Insensitivity to Pain with Anhidrosis.

Abstract

Background: Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN IV), is an exceedingly rare genetic disorder characterized by the inability to perceive pain, inability to sweat, and various neurological and orthopaedic complications.

Case presentation: This is a case report of a 3-year-old female patient as the first case in Latvia diagnosed with CIPA syndrome who repeatedly presented to Children's Clinical University Hospital (CCUH) in Riga, Latvia, with severe orthopaedic manifestations. The patient had repeated fractures, several surgeries, and extensive spread of the disease throughout the left leg, which caused significant functional impairment and decreased quality of life. Despite aggressive orthopaedic interventions, including surgical interventions and physical therapy, the patient's condition remained challenging to manage due to the inherent limitations posed by the insensitivity to pain. The Surgeon-Radiologist Council of Doctors discussed the patient's condition and clinical sequalae, deciding that reconstructive surgery is not feasible, and amputation is recommended.

Conclusions: Through this case report, we aim to highlight the unique orthopaedic challenges encountered in the management of CIPA patients, emphasizing the importance of a multidisciplinary approach involving orthopaedic surgeons, paediatricians, geneticists, and physiotherapists. Additionally, we discuss the need for further research to elucidate optimal management strategies and improve outcomes in this rare and complex patient population.