CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME - MULTIPLE ABNORMALITIESAND DIAGNOSTIC DELAY

A 3 week old boy presented with abnormal thyroid function, and was-tre ated with thyroxine. He developed multisystem disease including deafne ss and nephrotic syndrome, and died aged 3 months. Carbohydrate defici ent glycoprotein syndrome (CDGS) was diagnosed postmortem. CDGS should be considered in all infants with apparently unrelated multiple clini cal or biochemical abnormalities.