1979 Volume 41 Issue 5 Pages 856-863
A 32-year-old female patient with a glycogen storage disease (von Gierke’s disease) having multiple subcutaneous nodules was reported. She was small in stature with a doll-like appearance on her face, having hepatosplenomegaly and a bleeding tendency. The cutaneous manifestations were multiple, slightly yellowish subcutaneous nodules on her buttocks, thighs and knee joints. Laboratory studies disclosed the following values: fasting blood sugar: 38mg/dl; serum uric acid: 12.1mg/dl; serum lactate: 115mg/dl; serum cholesterol: 320mg/dl; serum phospholipid: 634mg/dl; and serum triglyceride: 1072mg/dl. Based on these data together with the results of oral-GTT, glucagon tolerance test and enzymologic examinations of blood cells, this patient was diagnosed as suffering from von Gierke’s disease. Histopathologically, she had an enlarged fatty liver, whose cells contained a large amount of glycogen granules. The subcutaneous nodule was a foreign body granuloma including white chalky glutinous materials, which consisted of uric acid, phospholipid, triglyceride and cholesterol-ester histochemically. This is believed to be a case of von Gierke’s disease with tophaceous gout.
