Congenital Insensitivity to Pain with Anhidrosis (CIPA) Syndrome; A Rare Genetic Disorder Case Story

Zahra  Nafei; Marjan Jafari

doi:10.18502/crcp.v7i2.10827

Zahra Nafei MD, Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Marjan Jafari Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

DOI: https://doi.org/10.18502/crcp.v7i2.10827

Keywords: Myositis ossificans; Congenital insensitivity to pain; Children

Abstract

Congenital insensitivity to pain with anhidrosis (CIPA) is the subtype four of hereditary sensory and autonomic neuropathy (HASN IV), caused by a defect in the NTRK1 gene and presenting early in life. We report a ten-year-old boy with gait problems and an inability to put weight on his feet. Four days before the visit, a trauma entered his right knee during a football match. He had swelling and erythema in his right knee and multiple scars on his torso and limbs. Magnetic resonance imaging (MRI) offered osteomyelitis and soft tissue periosteal abscess. The patient underwent an operation, and based on the pathology results, myositis ossificans (MO) was reported. Moreover, he was treated with antibiotics and supportive measures and was discharged with partial recovery. According to our knowledge, this is the first report of MO due to recurrent trauma in children with CIPA syndrome.