Osteomyelitis in Congenital Insensitivity to Pain with Anhidrosis

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal-recessive disorder. Recurrent osteomyelitis is also a rare, severe and fatal finding in this disorder. We report a 4-year-old boy brought to Namazi Hospital with a pus draining fistula on his right foot. He was the first son of an Iranian consanguineous parent. He had a history of episodic hyperpyrexia since neonatal period, absence of sweating except emotional tear, insensitiveness to injections and trauma, multiple burn and fractures in both extremities, corneal ulceration in 3rd month of his life, hyperactivity, frequent constipation with rectal prolaps, oral scar on his lips and tongue because of self biting, multiple scars on palms and hands and several hospitalization history for debridement of necrotic tissue and bone due to recurrent osteomyelitis of right calcaneous bone. Electromyography of the extremities and nerve conduction velocity confirmed nociceptive fiber pathology compatible with CIPA which is the first diagnostic hypothesis when assessing a child with CIPA and undiagnosed infection. CIPA is an untreatable illness, however the early diagnosis, cooperation and education of the parents will help us control its most severe and fatal complications.