Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 7618917.
- Also identified by PMC identifier 1511087.
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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.
Medical subject headings
- Abnormalities, Multiple
- Carbohydrate Metabolism, Inborn Errors
- Thyroid Gland