Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay.
Open Access
- 1 May 1995
- journal article
- case report
- Published by BMJ in Archives of Disease in Childhood
- Vol. 72 (5), 445-446
- https://doi.org/10.1136/adc.72.5.445
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.Keywords
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