15509              GLYCOGEN STORAGE DISEASE

The patient was a boy aged 14.  At the age of 1 year he was admitted to the A.C.H. with hepatomegaly but was removed from hospital by his parents before a diagnosis could be established.  A year later laparotomy and liver biopsy showed all cells filled with glycogen.  At that time the spleen appeared of normal size.  The only other previous record is from the School Medical Officer who reported that the child at the age of 11 was quite well apart from enlargement of the liver.  A brother also had hepatomegaly.  His last admission was with bronchopneumonia and septic otitis media, with high fever and drowsiness.  Lumbar puncture showed no gross abnormality.  The BUN was 153, haemoglobin 9 gms with a leukaemoid reaction in the blood.  The prothrombin was 14%, serum bilirubin 5 mgs (direct 1.9, indirect 3.1) SGPT 250+.  He died after 3 days in hospital.  At postmortem the liver was grossly enlarged (weight 3100 gms) and the spleen was also enlarged (weight 1050 gms).

The specimen is a slice of the liver which shows gross nodularity with patches of haemorrhage.  Some of the cellular nodules are unusually pale, with congested margins.  Histology shows dense fibrous septa containing proliferating bile ducts separate islands of liver cells.  Most of the liver cells have undergone coagulation necrosis with interstitial haemorrhage.  Surviving liver cells are grossly enlarged, distended and foamy with glycogen deposited both in cytoplasm and nuclei.  Chemical analysis of a portion of liver showed that glycogen constituted 4% of frozen tissues.  The mean chain length was 10 glucose units, which is apparently rather lower than that normally found in human liver glycogen (about 14 glucose units) but longer than that associated with glycogen of Type 3 Glycogen Storage Disease (about 6 glucose units).  Glucose-6-phosphatase activity was very low in the diseased liver, but not so low as to suggest Type 1 Glycogen Storage Disease (von Gierke’s disease).