title: Glycogen storage disease type Ia and VI associated with hepatocellular carcinoma: two case reports.
abstract: Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism due to intracellular enzyme deficiency resulting in abnormal storage of glycogen in tissues. GSD represents an indication for liver transplantation (OLT) when medical treatment fails to control the metabolic dysfunction and/or there is an high risk of malignant transformation of hepatocellular adenomas (HCA). Herein we have reported two cases of GSD, type Ia and type VI, which were both associated with rapidly growing HCA, and underwent OLT because of suspect changes in their radiological features. Final histological findings in the explanted liver showed the presence of hepatocellular carcinoma (HCC) in both cases. In GSD type Ia and VI, OLT is considered to be the treatment of choice when a liver neoplasm is suspected. While the association of HCC with GSD type Ia is well known, this is the first case of HCC in GSD type VI so far reported to the best of our knowledge.
authors.affiliation: U.O.C. Chirurgia dei Trapianti, Fondazione PTV, Policlinico Tor Vergata, University of Rome Tor Vergata, Rome, Italy.
authors.forename: T M
authors.initials: TM
authors.lastname: Manzia
authors.forename: R
authors.initials: R
authors.lastname: Angelico
authors.forename: L
authors.initials: L
authors.lastname: Toti
authors.forename: A
authors.initials: A
authors.lastname: Cillis
authors.forename: P
authors.initials: P
authors.lastname: Ciano
authors.forename: G
authors.initials: G
authors.lastname: Orlando
authors.forename: A
authors.initials: A
authors.lastname: Anselmo
authors.forename: M
authors.initials: M
authors.lastname: Angelico
authors.forename: G
authors.initials: G
authors.lastname: Tisone
mesh_terms: D000328:Adult; D006528:Carcinoma, Hepatocellular / Q000209:etiology* / Q000556:secondary / Q000601:surgery; D017809:Fatal Outcome; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000150:complications* / Q000601:surgery; D006011:Glycogen Storage Disease Type IV / Q000150:complications* / Q000601:surgery; D006801:Humans; D008113:Liver Neoplasms / Q000209:etiology* / Q000473:pathology / Q000601:surgery; D016031:Liver Transplantation; D008279:Magnetic Resonance Imaging; D008297:Male; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D055815:Young Adult