Liver Pathology in the Carbohydrate-deficient Glycoprotein Syndrome

Liver biopsies were examined in seven Swedish and four Belgian children with the recently described carbohydrate-deficient glycoprotein (CDG) syndrome. Light microscopical findings included fibrosis, which was generally slight to moderate and without obvious cirrhotic remodelling of the parenchyma, and intracellular lipid vacuoles and glycogen. The most characteristic electron microscopical finding was lysosomal vacuoles with concentric electron-dense membranes and variable electron-lucent and electron-dense material. In a minority of the parenchymal cells, the smooth endoplasmic reticulum showed an abundance of small rounded elements. A comparison of findings in children of different ages and the examination of a second biopsy in 5 children indicated that there was no progression of the liver lesions.