title: Congenital Methemoglobinemia Type II-Clinical Improvement with Short-Term Methylene Blue Treatment.
abstract: We report a case of prophylactic management with methylene blue (MB) in an almost 4-year-old male with congenital methemoglobinemia type II. He has a CYB5R3 compound heterozygote mutation, causing a cytochrome-b(5) reductase deficiency. Since the MB treatment regimen has commenced, his methemoglobin level has been significantly lower. He has shown modest behavioral improvements (as assessed on the Achenbach behavior report scales). There have been no iatrogenic side effects. These findings are encouraging for symptomatic improvement with regular prophylactic MB treatment but represent a single case report, which must be interpreted with caution.
authors.affiliation: Department of Developmental Medicine, Royal Children's Hospital, Parkville, Melbourne, Australia.|Department of Paediatrics, Murdoch Children's Research Institute, University of Melbourne, Parkville, Melbourne, Australia.
authors.forename: Monica S
authors.initials: MS
authors.lastname: Cooper
authors.affiliation: School of Allied and Public Health, Australian Catholic University, Fitzroy, Fitzroy.
authors.forename: Melinda
authors.initials: M
authors.lastname: Randall
authors.affiliation: Department of Developmental Medicine, Royal Children's Hospital, Parkville, Melbourne, Australia.
authors.forename: Margaret
authors.initials: M
authors.lastname: Rowell
authors.affiliation: Department of Developmental Medicine, Royal Children's Hospital, Parkville, Melbourne, Australia.
authors.forename: Margaret
authors.initials: M
authors.lastname: Charlton
authors.affiliation: Department of Haematology, Royal Children's Hospital, Murdoch Children's Research Institute, Parkville, Melbourne, Australia.
authors.forename: Anthea
authors.initials: A
authors.lastname: Greenway
authors.affiliation: Department of Haematology, Royal Children's Hospital, Murdoch Children's Research Institute, Parkville, Melbourne, Australia.
authors.forename: Chris
authors.initials: C
authors.lastname: Barnes
mesh_terms: D002675:Child, Preschool; D042966:Cytochrome-B(5) Reductase / Q000172:deficiency / Q000235:genetics; D006801:Humans; D008297:Male; D008708:Methemoglobinemia / Q000151:congenital* / Q000188:drug therapy* / Q000235:genetics; D008751:Methylene Blue / Q000008:administration & dosage*; D009154:Mutation
chemical_list: C583417:CYB5R3 protein, human; D042966:Cytochrome-B(5) Reductase; D008751:Methylene Blue
keywords: cyanosis; cytochrome-b(5)reductase; methemoglobin; methemoglobinemia; methylene blue