title: [Type III glycogen storage disease associated with hepatocellular carcinoma].
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.
authors.affiliation: Servicio de Aparato Digestivo, Hospital Infantil La Paz, Madrid, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Cosme
authors.forename: I
authors.initials: I
authors.lastname: Montalvo
authors.forename: J
authors.initials: J
authors.lastname: Sánchez
authors.forename: E
authors.initials: E
authors.lastname: Ojeda
authors.forename: J
authors.initials: J
authors.lastname: Torrado
authors.forename: E
authors.initials: E
authors.lastname: Zapata
authors.forename: L
authors.initials: L
authors.lastname: Bujanda
authors.forename: A
authors.initials: A
authors.lastname: Gutiérrez
authors.forename: I
authors.initials: I
authors.lastname: Arenas
mesh_terms: D000328:Adult; D001201:Ascites / Q000209:etiology; D014408:Biomarkers, Tumor / Q000097:blood; D006528:Carcinoma, Hepatocellular / Q000097:blood / Q000175:diagnosis / Q000209:etiology*; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D006010:Glycogen Storage Disease Type III / Q000150:complications; D006801:Humans; D008103:Liver Cirrhosis / Q000209:etiology; D008113:Liver Neoplasms / Q000097:blood / Q000175:diagnosis / Q000209:etiology*; D009363:Neoplasm Proteins / Q000097:blood; D000509:alpha-Fetoproteins / Q000032:analysis
chemical_list: D014408:Biomarkers, Tumor; D009363:Neoplasm Proteins; D000509:alpha-Fetoproteins