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  • Title: [Type III glycogen storage disease associated with hepatocellular carcinoma].
    Author: Cosme A, Montalvo I, Sánchez J, Ojeda E, Torrado J, Zapata E, Bujanda L, Gutiérrez A, Arenas I.
    Journal: Gastroenterol Hepatol; 2005 Dec; 28(10):622-5. PubMed ID: 16373012.
    Abstract:
    Type III glycogen storage disease is a hereditary disorder with autosomal recessive transmission. It is characterized by accumulation of abnormal glycogen in the liver and, in 80% of patients, in muscle. The liver can also show fibrosis and sometimes cirrhosis. Until 2000, 9 cases of cirrhosis had been published, 3 of which showed associated hepatocarcinoma. We present the case of a 31-year-old woman, diagnosed in childhood with type III glycogen storage disease, who 30 years after onset developed a hepatocellular carcinoma with portal thrombosis in the context of advanced cirrhosis. This is the first case to be reported in the Spanish literature of type III glycogen storage disease associated with hepatocellular carcinoma.
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