MANIFESTATION OF CARBOHYDRATE-DEFICIENT G LYCOPROTEIN SYNDROME TYPE-1IN EARLY INFANCY

The carbohydrate-deficient glycoprotein syndrome is a genetically dete rmined disease causing severe developmental disturbance of the nervous system and multiple dysfunction of internal organs. We describe it's phenotype, clinical course, pathologic laboratory and neuroradiologic findings in two young infants. As newborn both patients failed to thri ve, and had dysmorphic features and muscular hypotonia. Peculiar labor atory findings were hypoproteinemia, elevated transaminase activities, decreased cholinesterase activity, low TBG and LDL concentrations and disturbed coagulation parameters. On ultrasound examination the kidne ys were found to be more echogen than normal. NMR imaging of the brain revealed severe developmental delay of the white matter and marked ce rebellar hypoplasia. As shown by serum agarose isoelectric focussing, there was a decrease of the tetrasialo- and an increase of the asialo- transferrin fractions. In young infants with an unusual combination of clinical signs and laboratory findings CDG-syndrome should be suspect ed and biochemical examinations should be initiated, in order to confi rm this diagnosis.