Alpha1-antitrypsin deficiency with fatal intracranial hemorrhage in a newborn.
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 studies. Genotyping studies identified homozygosity for the point mutation 9989G-->A, confirming a diagnosis of alpha1-antitrypsin deficiency (ZZ phenotype), and resulted in appropriate screening of siblings born after this child's death. Alpha1-antitrypsin deficiency should be considered in the differential diagnosis of infants with late hemorrhagic disease of the newborn. Use of blood from the metabolic screening card as a source of DNA allowed confirmation of this diagnosis after the infant's death.
Israels
S J
SJ
Department of Pediatrics & Child Health, University of Manitoba, Winnipeg, Canada.
Gilfix
B M
BM
D001921:Brain / Q000000981:diagnostic imaging; D017809:Fatal Outcome; D005838:Genotype; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D020300:Intracranial Hemorrhages / Q000150:complications* / Q000000981:diagnostic imaging; D008099:Liver / Q000473:pathology; D008297:Male; D009961:Orosomucoid / Q000235:genetics; D010641:Phenotype; D017354:Point Mutation; D014057:Tomography, X-Ray Computed; D014813:Vitamin K Deficiency / Q000150:complications / Q000473:pathology; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications* / Q000235:genetics / Q000473:pathology
D009961:Orosomucoid