Hereditary methemoglobinemia.
Methemoglobinemia is a rare congenital disorder of blood associated with central cyanosis. We report a case of 12 years old male child who had asymptomatic central cyanosis since birth in the absence of any cyanotic cardiorespiratory disease. He shared this cyanosis with seven other family members spanning over three generations. He was diagnosed as a case of methemoglobinemia on the basis of history and investigations, put on methylene blue and later ascorbic acid, to which he showed a very good response.
Jamal
Ammarah
A
Department of Paediatrics, Dow University of Health Sciences and Civil Hospital, Karachi. drasjpk@yahoo.com
D002648:Child; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008708:Methemoglobinemia / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics