Congenital Insensitivity to Pain with Multiple Fractures: A Case Report and Literature Review

Congenital Insensitivity to Pain with Multiple Fractures: A Case Report and Literature Review

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Author(s)

Author(s): Pan Zhou, Chao Liu, Jinpei Yang, Shuai Zheng, Xueshi Li, Genlong Jiao, Zhizhong Li

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DOI: 10.18483/ijSci.2437 12 34 1-4 Volume 10 - Mar 2021

Abstract

Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease, the main clinical manifestations are loss of pain or dullness, accompanied by a series of complications. We followed up a patient with CIP for 9 years, and a total of 4 fractures in 6 parts of the lower limbs were found. The patient presented with typical pain retardation, accompanied by osteomyelitis, multiple fractures, self-harm behavior (biting the tip of the tongue and fingers), and not being afraid of heat. A mutation was found on the sodium channel type IX a subunit (SCN9A) gene (chr2: 167056320 (EX27E), NM_002977. 3: c. 4796G>T (p. Arg1599Leu)). There is currently no effective treatment for this disease. We have adopted a combination of conservative and surgical treatment for this child's orthopedic disease (osteomyelitis and fracture). During the 4th fracture hospitalization, with the informed consent of the family, we used zoledronic acid to prevent fractures caused by low energy. Follow-up for 3 years found that zoledronic acid not only promoted fracture healing, but also avoided new fracture formation. Through reviewing the literature, we observe that this is the first report of using zoledronic acid to successfully avert new fractures in this type of patient. Now we summarize the treatment experience and review the literature in order to provide reference for the clinical treatment of this disease and enrich the SCN9A gene mutation spectrum.

Keywords

Congenital Insensitivity to Pain, Multiple Fractures, SCN9A, Zoledronic Acid

References

  1. Dearborn GVN. A case of congenital pure analgesia. J Nerv Ment Dis. 1932, 75: 612–615.
  2. https://doi.org/10.1097/00005053-193206000-00002
  3. Sathiaseelan S, Rayar U. The mystery of the broken bones. CMAJ. 2003, 169: 1189-90.
  4. Cox JJ, Reimann F, Nicholas AK, et al. An SCN9A channelopathy causes congenital inability to experience pain. Nature. 2006, 444(7121): 894–8.
  5. https://doi.org/10.1038/nature05413
  6. Rollo G, Guida P, Bisaccia M, et al. TEN versus external fixator in the management of pediatric diaphyseal femoral fractures: evaluation of the outcome. Eur J Orthop Surg Traumatol. 2018, 28: 1421–1428.
  7. https://doi.org/10.1007/s00590-018-2201-3
  8. Bisaccia M, Meccariello L, Manni M, et al. Treatment of acute proximal humeral fractures in children with modular external fixator. J Acute Dis. 2016, 5: 497–501. https://doi.org/10.1016/j.joad.2016.08.021
  9. Hartono F, Tanjung C, E Besinga K, et al. Catastrophic results due to unrecognizing of congenital insensitivity to pain with anhidrosis in children with multiple long bones fractures: A case report of 27 years follow-up of two siblings. Int J Surg Case Rep. 2020, 73:213-217. https://doi.org/10.1016/j.ijscr.2020.07.010
  10. Schwartzlow C, Kazamel M. Hereditary sensory and autonomic neuropathies: adding more to the classification. Curr Neurol Neurosci Rep. 2019, 19: 52. https://doi.org/10.1007/s11910-019-0974-3
  11. Dunford JE, Thompson K. Coxon FP, et al. Structure-activity relationships for inhibition of farnesyl diphosphate synthase in vitro and inhibition of bone resorption in vivo by nitrogen-containing bisphosphonates. J Pharmacol Exp Ther. 2001, 96: 235–242.
  12. Mäkitie O. Causes, mechanisms and management of paediatric osteoporosis. Nat Rev Rheumatol. 2013, 9(8): 465-75.
  13. https://doi.org/10.1038/nrrheum.2013.45
  14. Brown JJ, Zacharin MR. Safety and efficacy of intravenous zoledronic acid in paediatric osteoporosis. J Pediatr Endocrinol Metab. 2009, 22(1): 55-63. https://doi.org/10.1515/jpem.2009.22.1.55
  15. Al-Agha AE, Shaikhain TA, Ashour AA. Safety & Efficacy of Cyclic Zoledronic Acid Therapy on Pediatric Secondary Osteoporosis. Glob J Health Sci. 2016, 8(8): 48648.
  16. https://doi.org/10.5539/gjhs.v8n8p20
  17. Otaify GA, Aglan MS, Ibrahim MM, et al. Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study. Osteoporos Int. 2016, 27(1): 81-92.
  18. https://doi.org/10.1007/s00198-015-3216-9

Cite this Article:

International Journal of Sciences is Open Access Journal.
This article is licensed under a Creative Commons Attribution 4.0 International (CC BY 4.0) License.
Author(s) retain the copyrights of this article, though, publication rights are with Alkhaer Publications.

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