RT Journal Article
SR Electronic
T1 Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay.
JF Archives of Disease in Childhood
JO Arch Dis Child
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP 445
OP 446
DO 10.1136/adc.72.5.445
VO 72
IS 5
A1 A C Hutchesson
A1 R G Gray
A1 D A Spencer
A1 G Keir
YR 1995
UL http://adc.bmj.com/content/72/5/445.abstract
AB 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.