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Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay
A C Hutchesson1, R G Gray, D A Spencer
1Birmingham Children's Hospital, Department of Clinical Chemistry.
Archives of Disease in Childhood
|May 1, 1995
Summary
Carbohydrate deficient glycoprotein syndrome (CDGS) is a rare genetic disorder. Early consideration of CDGS is crucial for infants presenting with diverse, seemingly unrelated symptoms.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Medicine
Background:
- Thyroid dysfunction is a common presentation in neonates.
- Multisystemic diseases require comprehensive diagnostic approaches.
Observation:
- A 3-week-old infant presented with abnormal thyroid function and was treated with thyroxine.
- The infant subsequently developed multisystemic disease, including deafness and nephrotic syndrome.
- The infant died at 3 months of age.
Findings:
- Post-mortem diagnosis confirmed Carbohydrate deficient glycoprotein syndrome (CDGS).
- CDGS is a rare congenital disorder affecting multiple organ systems.
Implications:
- CDGS should be suspected in infants with a constellation of unexplained clinical and biochemical abnormalities.
- This case highlights the importance of considering rare genetic disorders in neonatal multisystemic disease.
- Timely diagnosis of CDGS can potentially guide management and genetic counseling.