| Literature DB >> 33985978 |
Majdi Hamadeh1,2, Khalil Nasrallah1,2, Zeinab Ajami1,2, Rahil Zeaiter1,2, Layan Abbas1,2, Samih Hamadeh3, Jawad Fares4.
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.Entities:
Keywords: Acute renal failure; Glycogen storage disease; McArdle Disease; Neurology; Rhabdomyolysis
Year: 2021 PMID: 33985978 PMCID: PMC8231694 DOI: 10.3121/cmr.2021.1641
Source DB: PubMed Journal: Clin Med Res ISSN: 1539-4182