Congenital insensitivity to pain in one family.

Svec, Andrey; Feldinszka, Jana; Kokavec, Milan · J Pediatr Orthop B · 2018

case_series · Level IV

Where this comes from

Abstract

Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease caused by mutation in several different genes. The diagnosis requires the combined skills and cooperation of pediatricians, neurologists, radiologists, pathologists, and orthopedic surgeons. Orthopedic manifestations of CIP include delayed diagnosis of fractures, nonunions, Charcot arthropathy, avascular necrosis, osteomyelitis, joint dislocations, and heterotopic ossifications. We present case reports of two brothers with CIP with various orthopedic manifestations and methods of surgical treatment with 10 years of follow-up.

Medical subject headings

Anatomy