Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay.
A 3 week old boy presented with abnormal thyroid function, and was treated with thyroxine. He developed multisystem disease including deafness and nephrotic syndrome, and died aged 3 months. Carbohydrate deficient glycoprotein syndrome (CDGS) was diagnosed post-mortem. CDGS should be considered in all infants with apparently unrelated multiple clinical or biochemical abnormalities.
Hutchesson
A C
AC
Birmingham Children's Hospital, Department of Clinical Chemistry.
Gray
R G
RG
Spencer
D A
DA
Keir
G
G
D000015:Abnormalities, Multiple / Q000209:etiology*; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis*; D003638:Deafness / Q000209:etiology; D006023:Glycoproteins / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009404:Nephrotic Syndrome / Q000209:etiology; D013577:Syndrome; D013961:Thyroid Gland / Q000503:physiopathology*; D014168:Transferrin / Q000032:analysis
D006023:Glycoproteins; D014168:Transferrin