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.
Hunter Genetics, Hunter New England Health, Newcastle, Australia. Fiona.mckenzie@hnehealth.nsw.gov.au
F A
FA
McKenzie
M
M
Fietz
J
J
Fletcher
R L L
RL
Smith
I M R
IM
Wright
J
J
Jaeken
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