THE HEART AND PERICARDIAL-EFFUSIONS IN CDGS-I (CARBOHYDRATE-DEFICIENTGLYCOPROTEIN SYNDROME TYPE-I)

Pericardial effusions were found in 6 of 10 children with carbohydrate -deficient glycoprotein syndrome type I (CDGS-I). In three cases peric ardectomy was necessary. Blood concentrations of several glycoproteins and albumin were low. Similar abnormal isoforms of four glycoproteins were found in blood (B) and pericardial fluid (PF). There was a signi ficant negative correlation between the mean concentration ratio PF/B and the molecular mass (MW) of 11 proteins. For proteins with MW < 100 kDa there were significant correlations in the controls, but not in t he patients, between the PF/B ratio and both the MW and the sialic aci d contents in the (glyco-)proteins. The pericardium exhibited focal mi xed inflammatory changes with mesothelial proliferation, with widened endoplasmic reticulum and flocculent and/or lamellated material. Damag e to a pericardial protein barrier is suggested to be involved in peri cardial effusion in CDGS-I.