A female case of type VIII glycogenosis who developed cirrhosis of the liver and hepatocellular tumor.
The case of a 17-year-old female with a rare form of type VIII glycogenosis who developed cirrhosis of the liver and hepatocellular tumor is reported. Laparoscopy showed a tumor 50 mm in diameter in the lower portion of the right lobe of the liver. The tumor was biopsied under ultrasonic guidance, and tentatively diagnosed as adenomatous hyperplasia. The patient was also diagnosed as having type VIII glycogenosis (phosphorylase kinase deficiency).
Shiomi
S
S
Third Department of Internal Medicine, Osaka City University Medical School, Japan.
Saeki
Y
Y
Kim
K
K
Nishiguchi
S
S
Seki
S
S
Kuroki
T
T
Kobayashi
K
K
Harihara
S
S
Owada
M
M
D000293:Adolescent; D006528:Carcinoma, Hepatocellular / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D006004:Glycogen Debranching Enzyme System / Q000172:deficiency; D006008:Glycogen Storage Disease / Q000150:complications*; D006015:Glycogen Storage Disease Type VIII / Q000150:complications* / Q000000981:diagnostic imaging / Q000201:enzymology / Q000473:pathology; D006801:Humans; D008103:Liver Cirrhosis / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D008113:Liver Neoplasms / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D010764:Phosphorylase Kinase / Q000172:deficiency; D014057:Tomography, X-Ray Computed
D006004:Glycogen Debranching Enzyme System; D010764:Phosphorylase Kinase