title: [Cerebral hemorrhage in a 4-week-old infant with homozygous alpha 1-antitrypsin deficiency].
abstract: Heavy intracranial hemorrhage was found in a 4-week-old fully breast-fed infant. This was caused by severe hypoprothrombinemia following cholestatic hepatopathy with inborn alpha 1-antitrypsin deficiency of the ZZ type. When Pi type analysing the rest of the family another ZZ type was found among the 3 children of the clinically healthy parents.
mesh_terms: D002543:Cerebral Hemorrhage / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D010641:Phenotype; D019896:alpha 1-Antitrypsin Deficiency
vernacular_title: Zerebrale Blutung bei einem 4 Wochen alten Säugling mit homozytogem alpha 1-Antitrypsinmangel.