• C Langbour, S Nicolas, A Bigot, D Chu Miow Lin, S Baydoun, H Blasco, R Froissart, N Ferreira-Maldent, A Audemard-Verger, and F Maillot.
• Service de médecine interne, hôpital Bretonneau, CHRU de Tours, 2, boulevard Tonnellé, 37044 Tours cedex, France; Service de rhumatologie, CHRU de Tours, Tours, France. Electronic address: camille.langbour@etu.univ-tours.fr.
• Rev Med Interne. 2024 May 1; 45 (5): 312315312-315.

IntroductionMcArdle disease, or glycogen storage disease type V (GSD 5), is a rare metabolic myopathy linked to an autosomal recessive myophosphorylase deficiency.Case ReportWe report the case of a 17-year-old male patient who was referred to the emergency department for the management of acute inflammatory low back pain, without traumatic context, associated with an increase of CK at 66,336 UI/L (N<192UI/L) and a CRP at 202mg/L. The immunological assessment was negative and the spinal MRI showed images in favor of necrotizing fasciitis affecting the erector spinae muscles, among others. Faced with the description of difficulties in practicing physical activities since childhood and a non-ischaemic forearm exercise test showing no elevation in lactacidemia, genetic tests were carried out, finding two heterozygous variants in the PYGM gene: c.1963G>A (p.Glu655Lys) class 5 and c.2178-1G>A class 4, confirming the diagnosis of McArdle disease.DiscussionGSD 5 is a disease characterized essentially by muscular fatigability during exercise. The case reported here is original in the clinical circumstances leading to the diagnosis, i.e., inaugural acute low back pain with rhabdomyolysis. This symptomatology had already been described before, but in a patient whose diagnosis was already known. Spinal MRI showed non-specific muscle inflammation and necrosis. Muscle biopsy only found necrosis but no pathological elements typical of the diagnosis. If the symptoms are suggestive, it may be preferable to directly perform a non-ischaemic forearm exercise test, in order to go directly to molecular genetic analysis. There is no specific curative treatment of GSD 5. However, some measures can be implemented to limit the symptoms, such as learning physical exercises, limiting intense efforts and adopting dietary recommendations.Copyright © 2024 The Authors. Published by Elsevier Masson SAS.. All rights reserved.

17 keywords...

hide…