J Korean Orthop Assoc.  2019 Oct;54(5):463-468. 10.4055/jkoa.2019.54.5.463.

Congenital Insensitivity to Pain with Anhidrosis: Five-Year-Old Girl with a Neglected Distal Femur Fracture

Affiliations
  • 1Department of Orthopedic Surgery, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan, Korea. nari1006@gmail.com

Abstract

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare disease that affects the sensory and autonomic nervous system. The patients do not have the ability to sense different sensations, such as pain, which tends to lead to different injuries. In addition, the patients suffer from fluctuations in body temperature due to autonomic involvement. The present case was a five-year-old girl with a neglected distal femur fracture. X-rays taken during the follow-up showed marked callus formation and pseudarthrosis of the distal femur. She had biting injuries of the tongue, auto-amputation of the fingers, some developmental delay and a history of recurrent fever with an unknown origin. The electrodiagnostic study was normal. The quantitative sudomotor axon reflex test revealed markedly reduced postganglionic sudomotor axonal responses at all sites recorded on the left. She was diagnosed with CIPA. As the initial presentation of CIPA involves the musculoskeletal system, orthopedic surgeons should have a high index of suspicion.

Keyword

femur; hereditary sensory and autonomic neuropathy type IV; congenital insensitivity to pain with anhidrosis
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