Sequential spontaneous compartment syndrome in multiple limbs in a young adult with GYG1 gene mutation

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.

Keywords: genetics; metabolic disorders; musculoskeletal and joint disorders; orthopaedic and trauma surgery; orthopaedics.

Figure 1

Clinical picture of the right forearm following split thickness skin grafting.

Figure 2

Intraoperative picture of the left leg fasciotomy.