[Perinatal hemochromatosis].
Perinatal hemochromatosis (PHC) is a rare disorder presumably autosomal recessive, responsible for foetal death or severe liver failure during the neonatal period. It is fatal in nearly all cases. Diagnosis relies on histologic examination, generally post mortem, which shows numerous iron deposits in the liver as well as other organs (pancreas, heart, thyroid...). The study of iron and of its ligands may have a diagnostic interest. The authors report 2 cases of PHC in one family, of whom one concerned child presented with biological signs evoking PHC on foetal blood at 31 weeks of pregnancy.
de Boissieu
D
D
Service de Pédiatrie Générale, Hôpital Saint-Vincent-de-Paul, Paris.
Checoury
A
A
Barbet
P
P
Francoual
C
C
Rochiccioli
F
F
Badoual
J
J
D005260:Female; D006432:Hemochromatosis / Q000097:blood / Q000175:diagnosis / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D007501:Iron / Q000032:analysis; D008099:Liver / Q000473:pathology*; D010179:Pancreas / Q000473:pathology*; D011296:Prenatal Diagnosis; D014168:Transferrin / Q000032:analysis
D014168:Transferrin; D007501:Iron
Hémochromatose périnatale.