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Sequential spontaneous compartment syndrome in multiple limbs in a young adult with GYG1 gene mutation
  1. Vinay Mathew Joseph,
  2. Mathias Thomas Nagy,
  3. Sohail Akhtar and
  4. Chye Yew Ng
  1. Department of Trauma and Orthopaedic Surgery, Wrightington Hospital, Wigan, UK
  1. Correspondence to Dr Vinay Mathew Joseph; dr.vinayjoseph{at}gmail.com

Abstract

Compartment syndrome is a surgical emergency requiring immediate intervention. Majority of compartment syndromes are associated with trauma or surgery. Spontaneous compartment syndrome in multiple limbs is rare and alternative diagnosis should be sought. We report a young adult man who developed compartment syndrome in all four limbs sequentially over 4 years. On further evaluation, he was found to have a gene mutation in exon 3 of GYG1 gene. Spontaneous compartment syndrome in patients with GYG1 gene mutation does not appear to have been previously recognised. Although a direct causality cannot be confidently drawn, this gene is involved in muscle energy utilisation and is known to cause metabolic defect. Acute compartment syndrome, once diagnosed, warrants emergency surgical decompression. The subsequent management of spontaneous compartment syndrome demands a thorough medical assessment to identify any underlying metabolic or genetic predisposition.

  • musculoskeletal and joint disorders
  • metabolic disorders
  • genetics
  • orthopaedics
  • orthopaedic and trauma surgery
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Footnotes

  • Twitter @CY_Hand

  • Contributors VMJ and MTN: drafting the article and revising it critically for important intellectual content. SA: Treated the patient and edited the manuscript . CYN: Treated the patient, edited the manuscript and gave final approval of the version published.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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