[Carbohydrate-deficient glycoprotein syndrome].

Carbohydrate-deficient glycoprotein syndrome is a recently identified recessively inherited, multisystemic disease with severe nervous system involvement. It is characterized biochemically by carbohydrate-deficient serum glycoproteins. Serum transferrin shows the most pronounced carbohydrate defect, and can be used as a marker of the disease. The patient we present here had many of the characteristic symptoms. She was a girl with psychomotor retardation, and had slightly dysmorphic features. She had convulsive episodes, some hepatopathy and pericardial effusions. CT-scan of the cerebrum showed cortical and central atrophy. The diagnosis was confirmed by the finding of greatly elevated values of carbohydrate-deficient serum transferrin.