Alpha1-antitrypsin deficiency with fatal intracranial hemorrhage in a newborn.

Abstract excerpt

A 4-week-old boy had a fatal intracranial hemorrhage resulting from vitamin K deficiency. The infant had received no vitamin K prophylaxis and was exclusively breastfed. At autopsy, examination of the liver showed cholestasis and fibrosis. DNA was isolated from a blood spot on a Gutherie sample card obtained from the infant for routine metabolic screening. This DNA was used for alpha1-antitrypsin genotyping...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to alpha 1-Antitrypsin Deficiency
• Share to Fatal Outcome
• Share to Homozygote