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

• Woo SH
• Kim TW
• Bae JY
• Kwak SH

• KMID: 2461238
• DOI: http://doi.org/10.4055/jkoa.2019.54.5.463

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

MeSH Terms

Autonomic Nervous System
Axons
Body Temperature
Bony Callus
Female
Femur*
Fever
Fingers
Follow-Up Studies
Hereditary Sensory and Autonomic Neuropathies*
Humans
Musculoskeletal System
Orthopedics
Pain Insensitivity, Congenital*
Pseudarthrosis
Rare Diseases
Reflex
Sensation
Surgeons
Tongue

Figure

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  Figure 1 Radiographs of the right knee joint obtained at the first visit in another clinic show a fracture of the distal femur.

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  Figure 2 Radiographs taken during the follow-up shows marked callus formation and pseudarthrosis of the distal femur epiphysis. (A) Radiograph at the initial visit. (B) Radiograph taken three weeks later. (C) Radiograph taken seven weeks later.

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  Figure 3 Magnetic resonance imagings revealing the pericortical area surrounding with the distal femur shaft considered to be ossification or marked new bone formation, relatively normally preserved bone marrow of the distal femur.

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  Figure 4 Pictures showing the clinical features of the patient. (A) Post traumatic deformity and missing terminal part of the fingers. (B) Biting injuries of the tongue and multiple healed scars in the oral cavity.

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  Figure 5 Radiographs of the hands and right distal femur. (A) Both hands show a missing terminal phalanx of the index finger (arrows). (B) Radiograph reveal non-union with exuberant callus at the right distal tibia.

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  Figure 6 Final follow-up X-rays show complete healing of the right distal femur and distal tibia fractures.

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