MANIFESTATION OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-1 IN EARLY INFANCY

The carbohydrate-deficient glycoprotein syndrome is a genetically determined 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 thrive, and had dysmorphic features and muscular hypotonia. Peculiar laboratory findings were hypoproteinemia, elevated transaminase activities, decreased cholinesterase activity, low TBG and LDL concentrations and disturbed coagulation parameters. On ultrasound examination the kidneys were found to be more echogen than normal. NMR imaging of the brain revealed severe developmental delay of the white matter and marked cerebellar 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 suspected and biochemical examinations should be initiated, in order to confirm this diagnosis.