A female case of type VIII glycogenosis who developed cirrhosis of the liver and hepatocellular tumor

Gastroenterol Jpn. 1989 Dec;24(6):711-4. doi: 10.1007/BF02774172.

Abstract

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).

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Carcinoma, Hepatocellular / complications*
  • Carcinoma, Hepatocellular / diagnostic imaging
  • Carcinoma, Hepatocellular / pathology
  • Female
  • Glycogen Debranching Enzyme System / deficiency
  • Glycogen Storage Disease / complications*
  • Glycogen Storage Disease Type VIII / complications*
  • Glycogen Storage Disease Type VIII / diagnostic imaging
  • Glycogen Storage Disease Type VIII / enzymology
  • Glycogen Storage Disease Type VIII / pathology
  • Humans
  • Liver Cirrhosis / complications*
  • Liver Cirrhosis / diagnostic imaging
  • Liver Cirrhosis / pathology
  • Liver Neoplasms / complications*
  • Liver Neoplasms / diagnostic imaging
  • Liver Neoplasms / pathology
  • Phosphorylase Kinase / deficiency
  • Tomography, X-Ray Computed

Substances

  • Glycogen Debranching Enzyme System
  • Phosphorylase Kinase