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

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

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

  • 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.

  • 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.

  • 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.

  • 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.

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


Reference

1. Freeman R. Autonomic peripheral neuropathy. Lancet. 2005; 365:1259–1270.
2. Bar-On E, Weigl D, Parvari R, Katz K, Weitz R, Steinberg T. Congenital insensitivity to pain. Orthopaedic manifestations. J Bone Joint Surg Br. 2002; 84:252–257.
3. Rotthier A, Baets J, De Vriendt E, et al. Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. Brain. 2009; 132:2699–2711.
4. Edvardson S, Cinnamon Y, Jalas C, et al. Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. Ann Neurol. 2012; 71:569–572.
5. Leipold E, Liebmann L, Korenke GC, et al. A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nat Genet. 2013; 45:1399–1404.
6. Chen YC, Auer-Grumbach M, Matsukawa S, et al. Transcriptional regulator PRDM12 is essential for human pain perception. Nat Genet. 2015; 47:803–808.
7. Swanson AG. Congenital insensitivity to pain with anhydrosis. A unique syndrome in two male siblings. Arch Neurol. 1963; 8:299–306.
8. Indo Y, Tsuruta M, Hayashida Y, et al. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet. 1996; 13:485–488.
9. Indo Y. Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA(NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor. Clin Auton Res. 2002; 12 Suppl 1:I20–I32.
10. James WD, Berger TG, Elston DM. Andrews' diseases of the skin: clinical dermatology. Philadelphia: Saunders Elsevier;2006. p. 546.
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