Pearson syndrome in an infant heterozygous for C282Y allele of HFE gene.
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.
Kefala-Agoropoulou
Kalomoira
K
3rd Department of Pediatrics, Hippokration Hospital, Aristotle University, Thessaloniki, Greece.
Roilides
Emmanuel
E
Lazaridou
Anna
A
Karatza
Eliza
E
Farmaki
Evangelia
E
Tsantali
Haido
H
Augoustides-Savvopoulou
Persephone
P
Tsiouris
John
J
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
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D003676:Deferoxamine