A previously undescribed form of congenital disorder of glycosylation with variable presentation in siblings: early fetal loss with hydrops fetalis, and infant death with hypoproteinemia.
We present two siblings with a previously undescribed congenital disorder of glycosylation (CDG). The first child died in utero with severe hydrops fetalis and the second presented following preterm delivery with respiratory insufficiency, generalised edema and a protein-losing enteropathy. Both had a similar pattern of facial dysmorphism and joint contractures. The diagnosis of CDG-I was made following the birth of the second child based on the serum transferrin isoform pattern. CDG-Ia and -Ib were excluded by specific enzyme analysis. Joint contractures are a relatively uncommon finding in CDG, although fetal hydrops (CDG-Ia) and protein-losing enteropathy (CDG-Ib) are well recognized. CDG must be considered in the differential diagnosis of hydrops fetalis, congenital hypoproteinemia and death in early infancy, particularly when associated with dysmorphic features.
McKenzie
F A
FA
Hunter Genetics, Hunter New England Health, Newcastle, Australia. Fiona.mckenzie@hnehealth.nsw.gov.au
Fietz
M
M
Fletcher
J
J
Smith
R L L
RL
Wright
I M R
IM
Jaeken
J
J
D000328:Adult; D005260:Female; D006031:Glycosylation; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis* / Q000235:genetics* / Q000401:mortality; D007019:Hypoproteinemia / Q000151:congenital / Q000175:diagnosis* / Q000401:mortality*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics* / Q000401:mortality