title: Congenital methaemoglobinaemia: a rare cause of cyanosis in an adult patient.
abstract: Cyanosis is a physical finding that can occur at any age but presents a great challenge as the causes are multiple and varied. When patients present with cyanosis and dyspnoea that are unrelated to cardiopulmonary causes, methaemoglobinaemia should be considered as a possible diagnosis although rare. Methaemoglobinaemia can be asymptomatic even when methaemoglobin (metHb) levels are as high as 40% of the total haemoglobin values. Although acquired methaemoglobinaemia caused by environmental oxidizing agents is common; congenital deficiency of the innate reducing enzymes is so rare that very few cases have been documented. We report this case of type I congenital methaemoglobinaemia.
authors.forename: Vikram
authors.initials: V
authors.lastname: Londhey
authors.forename: Kranti
authors.initials: K
authors.lastname: Khadilkar
authors.forename: Jugal
authors.initials: J
authors.lastname: Gad
authors.forename: Bharati
authors.initials: B
authors.lastname: Chawla
authors.forename: Dilip
authors.initials: D
authors.lastname: Asgaonkar
mesh_terms: D000293:Adolescent; D003490:Cyanosis / Q000175:diagnosis / Q000209:etiology*; D042966:Cytochrome-B(5) Reductase / Q000172:deficiency*; D006801:Humans; D008297:Male; D008708:Methemoglobinemia / Q000150:complications* / Q000175:diagnosis*
chemical_list: D042966:Cytochrome-B(5) Reductase