title: Pearson syndrome in an infant heterozygous for C282Y allele of HFE gene.
abstract: BACKGROUND
  Pearson syndrome is a rare mitochondrial disorder characterized by sideroblastic anemia, liver disease, renal tubulopathy and exocrine pancreas deficiency.
  
  
  METHODS
  We describe a female infant suffering from anemia since birth who gradually developed the complete picture of Pearson syndrome by 13 months. Iron overload was disproportionate to blood transfusions. The patient was heterozygous for HFE gene C282Y mutation (type I hemochromatosis). After an initial response to deferoxamine she presented with cutaneous zygomycosis and died after metabolic derangement and Pneumocystis jiroveci pneumonia.
  
  
  CONCLUSIONS
  This is the second case of a Pearson syndrome individual who was also heterozygous for HFE gene mutation C282Y published. It is also the second case report of a Pearson patient suffering from severe iron overload and liver disease that responded to therapy with deferoxamine.
authors.affiliation: 3rd Department of Pediatrics, Hippokration Hospital, Aristotle University, Thessaloniki, Greece.
authors.forename: Kalomoira
authors.initials: K
authors.lastname: Kefala-Agoropoulou
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Roilides
authors.forename: Anna
authors.initials: A
authors.lastname: Lazaridou
authors.forename: Eliza
authors.initials: E
authors.lastname: Karatza
authors.forename: Evangelia
authors.initials: E
authors.lastname: Farmaki
authors.forename: Haido
authors.initials: H
authors.lastname: Tsantali
authors.forename: Persephone
authors.initials: P
authors.lastname: Augoustides-Savvopoulou
authors.forename: John
authors.initials: J
authors.lastname: Tsiouris
mesh_terms: D000756:Anemia, Sideroblastic / Q000150:complications*; D003676:Deferoxamine / Q000627:therapeutic use; D017809:Fatal Outcome; D005260:Female; D006432:Hemochromatosis / Q000150:complications*; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007223:Infant; D019190:Iron Overload; D008107:Liver Diseases; D008565:Membrane Proteins / Q000235:genetics*; D028361:Mitochondrial Diseases / Q000150:complications*; D020125:Mutation, Missense; D013577:Syndrome
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D003676:Deferoxamine