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McArdle Disease Misdiagnosed as Meningitis

Scalco, RS; Chatfield, S; Junejo, MH; Booth, S; Pattni, J; Godfrey, R; Quinlivan, R; (2016) McArdle Disease Misdiagnosed as Meningitis. American Journal of Case Reports , 17 pp. 905-908. 10.12659/AJCR.900967. Green open access

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Abstract

BACKGROUND: McArdle disease is a glycogen storage disorder mainly characterized by exercise intolerance. Prolonged muscle contracture is also a feature of this condition and may lead to rhabdomyolysis (RM), which is a serious event characterized by acute skeletal muscle damage. CASE REPORT: A 44-year-old female patient presented with an acute contracture of the posterior neck muscles, causing severe nuchal rigidity. The contracture was induced during a dental extraction as she held her mouth open for a prolonged period, with her neck in a rigid position. She presented with severe pain in her ear and head, as well as fever, vomiting, and confusion. Based on her symptoms, she was initially misdiagnosed with bacterial meningitis and experienced an acute allergic reaction to the systemic penicillin she was subsequently administered. Lumbar puncture results were normal. High serum creatine kinase (CK) levels, recurrent exercise-related muscle symptoms, and a previous history of recurrent myoglobinuria raised the suspicion of an underlying neuromuscular condition. McArdle disease was confirmed by muscle biopsy and a genetic test, which revealed that the patient was homozygous for the R50X mutation in the PYGM gene. CONCLUSIONS: This case illustrates that even seemingly innocuous movements, if rapid isotonic or prolonged isometric in nature, can elicit a muscle contracture in McArdle disease patients. Here, we highlight the need for careful management in this patient population even during routine healthcare procedures. The allergic reaction to antibiotics emphasises that misdiagnoses may result in iatrogenic harm.

Type: Article
Title: McArdle Disease Misdiagnosed as Meningitis
Location: USA
Open access status: An open access version is available from UCL Discovery
DOI: 10.12659/AJCR.900967
Publisher version: http://dx.doi.org/10.12659/AJCR.900967
Language: English
Additional information: All articles are published under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) only allowing others to download articles and share them with others as long as they credit the authors and the publisher, but without permission to change them in any way or use them commercially.
Keywords: McArdle disease, Glycogen Storage Disease, Rhabdomyolysis, Myoglobinuria, multi-disciplinary team, Misdiagnosis, 12-Minute Walk Test, Second wind
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/1519844
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