title: A child with hyperferritinemia: case report.
abstract: Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare condition caused by mutations in the gene coding for the light chain of ferritin; it does not lead to iron overload, but it is associated with the risk of developing a bilateral nuclear cataract also in childhood. On the contrary, a raise of serum ferritin levels is a common finding in pediatrics. We describe here a case of HHCS that offers some interesting clues for the daily practice. Our patient is a 6 year old Italian boy who came to our attention after some time of diagnostic uncertainties because of persistently high levels of ferritin with no apparent cause. We were guided to the suspect of this syndrome by the family history (5 members with various degrees of cataract developed in first infancy). High levels of serum ferritin and specific genetic testing (mutation A37C) confirmed the diagnosis. This case underlines the need of considering rare genetic syndromes, including hereditary hyperferritinemia cataract syndrome, in the differential diagnosis of raised serum ferritin in children and the importance of paying attention to family history in considering a patient with isolated raised levels of serum ferritin.
authors.affiliation: Division of Pediatrics and Thalassemia Center, Department of Clinical and Biological Sciences, University of Torino, S, Luigi Gonzaga Hospital, Orbassano (TO), 10043, Italy. antonio.piga@unito.it
authors.forename: Melania
authors.initials: M
authors.lastname: Serra
authors.forename: Filomena
authors.initials: F
authors.lastname: Longo
authors.forename: Antonella
authors.initials: A
authors.lastname: Roetto
authors.forename: Alessandro
authors.initials: A
authors.lastname: Sandri
authors.forename: Antonio
authors.initials: A
authors.lastname: Piga
mesh_terms: D002386:Cataract / Q000097:blood / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D002648:Child; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005293:Ferritins / Q000097:blood*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D019189:Iron Metabolism Disorders / Q000097:blood / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D004247:DNA; D005293:Ferritins