title: [Congenital methemoglobinemia: a rare case of cyanosis in the newborn].
abstract: We report the case of a newborn presenting a cyanosis after the birth with a good general state. Congenital methemoglobinemia is a rare disease which is characterized by a brutal appearance, in early infancy, of a bluish skin color not regressing with oxygen inspiration, and by a good general state. It is due to the recessive autosomal NADH-cytochrome b5 reductase (EC. 1.6.2.2) deficiency. This enzyme normally allows the reduction of the physiologically formed methemoglobinemia. Two forms of congenital methemoglobinemia have to be distinguished: the benign form (type I) and the severe form (type II).
authors.affiliation: Laboratoire d'hématologie - EFS Lorraine Champagne, Vandoeuvre les Nancy. lo.schwarth@free.fr
authors.forename: L
authors.initials: L
authors.lastname: Schwartz
authors.forename: P
authors.initials: P
authors.lastname: Franck
authors.forename: C
authors.initials: C
authors.lastname: Debruille
authors.forename: J L
authors.initials: JL
authors.lastname: Olivier
authors.forename: C
authors.initials: C
authors.lastname: Vigneron
mesh_terms: D003490:Cyanosis / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008708:Methemoglobinemia / Q000150:complications* / Q000151:congenital*