Menu

rss
Arch Dis Child 72:445-446 doi:10.1136/adc.72.5.445
  • Research Article

Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay.

  1. A C Hutchesson,
  2. R G Gray,
  3. D A Spencer,
  4. G Keir
  1. Birmingham Children's Hospital, Department of Clinical Chemistry.

      Abstract

      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.