[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: L Schwartz, P Franck, C Debruille, J L Olivier, C Vigneron
• Journal: Annales de biologie clinique (Ann Biol Clin (Paris)) 2005 May-Jun Vol. 63 Issue 3 Pg. 314-6 ISSN: 0003-3898 [Print] France
• Vernacular Title: Methémoglobinémie congénitale récessive: une cause rare de cyanose du nouveau-né
• PMID: 15951263 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Cyanosis (etiology)
• Humans
• Infant, Newborn
• Male
• Methemoglobinemia (complications, congenital)