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1.
Neuromuscul Disord ; 33(11): 866-872, 2023 Nov.
Article in English | MEDLINE | ID: mdl-37919205

ABSTRACT

Compartment syndrome (CS) is a medical emergency that occurs secondary to excessively high pressures within a confined fibro-osseous space, resulting in reduced perfusion and subsequent tissue injury. CS can be divided into acute forms, most commonly due to trauma and considered an orthopaedic emergency, and chronic forms, most commonly presenting in athletes with recurrent exercise-induced pain. Downstream pathophysiological mechanisms are complex but do share commonalities with mechanisms implicated in genetic neuromuscular disorders. Here we present 3 patients with recurrent CS in the context of a RYR1-related disorder (n = 1) and PYGM-related McArdle disease (n = 2), two of whom presented many years before the diagnosis of an underlying neuromuscular disorder was suspected. We also summarize the literature on previously published cases with CS in the context of a genetically confirmed neuromuscular disorder and outline how the calcium signalling alterations in RYR1-related disorders and the metabolic abnormalities in McArdle disease may feed into CS-causative mechanisms. These findings expand the phenotypical spectrum of RYR1-related disorders and McArdle disease; whilst most forms of recurrent CS will be sporadic, above and other genetic backgrounds ought to be considered in particular in patients where other suggestive clinical features are present.


Subject(s)
Compartment Syndromes , Fibromyalgia , Glycogen Storage Disease Type V , Neuromuscular Diseases , Humans , Glycogen Storage Disease Type V/diagnosis , Ryanodine Receptor Calcium Release Channel/genetics , Compartment Syndromes/etiology , Compartment Syndromes/genetics , Neuromuscular Diseases/diagnosis , Neuromuscular Diseases/genetics , Neuromuscular Diseases/complications , Fibromyalgia/complications
2.
BMJ Case Rep ; 13(11)2020 Nov 30.
Article in English | MEDLINE | ID: mdl-33257366

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.


Subject(s)
Compartment Syndromes/genetics , Glucosyltransferases/genetics , Glycoproteins/genetics , Mutation , Acute Disease , Compartment Syndromes/surgery , Fasciotomy , Genetic Predisposition to Disease , Glycogen/metabolism , Humans , Male , Young Adult
4.
Ann R Coll Surg Engl ; 93(7): e138-40, 2011 Oct.
Article in English | MEDLINE | ID: mdl-22004624

ABSTRACT

Compartment syndrome of the leg and forearm are well described in the literature. However, compartment syndrome of the hand is rare and in children it is even rarer. Atraumatic hand compartment syndrome has not to our knowledge been previously reported. We describe a case of an atraumatic compartment syndrome of the hand in a child who underwent an urgent fasciotomy. The child was diagnosed with hereditary angiooedema. We highlight a rare but serious complication of a hereditary disease not commonly seen by the surgical community. We hope that this report raises the awareness of this condition, thereby reducing delays in reaching a prompt diagnosis.


Subject(s)
Angioedemas, Hereditary/complications , Compartment Syndromes/genetics , Hand/blood supply , Adolescent , Carpal Tunnel Syndrome/etiology , Carpal Tunnel Syndrome/surgery , Compartment Syndromes/surgery , Female , Humans
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