Abstract

With knowledge of the clinical presentation, the response of blood sugar level to intravenous injection of glucagon or epinephrine, and the light and electron microscopic findings of liver and skeletal muscle, a presumptive diagnosis can be made in most of the glycogenosis. We have experienced a case of type I glycogenosis in a 13-year-old male patient, who presented severe hepatosplenomegly, hypoglycemia, hyperlipidemia and hyperuricemia without any skeletal abnormalities. The hypoglycemia after 24 hour-fasting failed to respond to glucagon or epinephrine tests. The liver cells were swollen apparently due to accumulation of large amount of glycogen which was confirmed by PAS, diastase-PAS and Best's carmine stains, and fatty metamorphosis. Nuclear glycogenation was present in periportal hepatocytes. Portal or septal fibrosis wart not noted. The electron microscopy of the liver clearly demonstrated uniform increase of normal glycogen particles with displacement of other intracellular organelles, numerous lipid droplets and nuclear glycogenation. With these findings one can make a presumptive diagnosis of type I glycogenosis until ultimate chemical proof of glucose-6-phosphatase deficit.