Clinical Presentation and Management of Severe Acute Renal Failure in McArdle Disease

  1. Jawad Fares, MD, MSc§
  1. *Lebanese University Faculty of Medicine, Beirut, Lebanon
  2. Al-Zahraa Hospital University Medical Center, Beirut, Lebanon
  3. University of Michigan-Dearborn, Dearborn, MI, USA
  4. §Department of Neurological Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA
  1. Corresponding Author:
    Jawad Fares, MD, MSc, Department of Neurological Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA, Email: jawad.fares{at}northwestern.edu

Abstract

McArdle disease, also known as glycogen storage disease type V, is an autosomal recessive disease due to the absence of myophosphorylase activity, leading to the complete disruption of glycogen breakdown in muscles. We present a rare case of a Caucasian male, aged 26 years, who developed rhabdomyolysis-induced acute renal failure and uremic encephalopathy. Neurological examination and histopathological studies supported the diagnosis of McArdle disease. The severity of his symptoms necessitated urgent hemodialysis, upon which the patient reported improvement in status. Acute renal failure in McArdle disease usually resolves with supportive treatment and maintenance of regular physical activity. Nevertheless, in more severe cases, intensive care with urgent hemodialysis may be needed. A multidisciplinary approach is necessary for the adequate management of similar cases.

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