[Congenital methemoglobinemia: a rare case of cyanosis in the newborn].
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).
Schwartz
L
L
Laboratoire d'hématologie - EFS Lorraine Champagne, Vandoeuvre les Nancy. lo.schwarth@free.fr
Franck
P
P
Debruille
C
C
Olivier
J L
JL
Vigneron
C
C
D003490:Cyanosis / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008708:Methemoglobinemia / Q000150:complications* / Q000151:congenital*