30 November 2016 : Case report
McArdle Disease Misdiagnosed as Meningitis
Mistake in diagnosis, Diagnostic / therapeutic accidents, Rare disease, Educational Purpose (only if useful for a systematic review or synthesis)Renata Siciliani Scalco12ABDEF, Sherryl Chatfield1BE, Muhammad Hyder Junejo3EF, Suzanne Booth1DF, Jatin Pattni1DF, Richard Godfrey4EF, Ros Quinlivan15ADE*
Am J Case Rep 2016; 17:905-908
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.
Keywords: Diagnostic Errors, Glycogen Storage Disease Type V, Meningism, rhabdomyolysis
29 March 2023 : EditorialEditorial: Effective Direct-Acting Antiviral Treatments Support Global and National Programs to Eliminate H...
Med Sci Monit In Press; DOI: 10.12659/MSM.940519
21 March 2023 : Case reportKidney Transplantation from a Deceased Donor with COVID-19 Ad26.COV2-S Vaccine-Induced Thrombotic Thrombocy...
Am J Case Rep In Press; DOI: 10.12659/AJCR.938730
21 March 2023 : Case reportClassical Presentation of Disseminated Blastomycosis in a 44-Year-Old Healthy Man 3 Months After Diagnosis ...
Am J Case Rep In Press; DOI: 10.12659/AJCR.938659
22 February 2023 : Case reportA 30-Year-Old Woman with an 8-Week History of Anxiety, Depression, Insomnia, and Mild Cognitive Impairment ...
Am J Case Rep In Press; DOI: 10.12659/AJCR.938732
30 Mar 2023 : Case reportAnterior Descending Coronary Artery Pseudoaneurysm in an 85-Year-Old Male Hemodialysis Patient: A Surgical ...
Am J Case Rep In Press; DOI: 10.12659/AJCR.939200
30 Mar 2023 : Case reportA 43-Year-Old Brazilian Man with Acute Impairment of Lung Function and Pulmonary Nodules with Features of E...
Am J Case Rep In Press; DOI: 10.12659/AJCR.939365
28 Mar 2023 : Case reportA Huge Malignant Ovarian Tumor: A Case Report
Am J Case Rep In Press; DOI: 10.12659/AJCR.939387
27 Mar 2023 : Case reportChest Tightness with Cycling Turned Out To Be Pneumomediastinum
Am J Case Rep In Press; DOI: 10.12659/AJCR.939170
Most Viewed Current Articles
06 Dec 2021 : Case reportLipedema Can Be Treated Non-Surgically: A Report of 5 Cases
Am J Case Rep 2021; 22:e934406
13 Jul 2022 : Case reportWhistling Scrotum: An Unusual Presentation of Pneumomediastinum in the Setting of an Open Scrotal Wound
Am J Case Rep 2022; 23:e936441
23 Feb 2022 : Case reportPenile Necrosis Associated with Local Intravenous Injection of Cocaine
Am J Case Rep 2022; 23:e935250
07 Dec 2021 : Case reportEdwardsiella tarda: A Classic Presentation of a Rare Fatal Infection, with Possible New Background Risk Fac...
Am J Case Rep 2021; 22:e934347