title: [Isolated hyperferritinemia in a healthy male infant: hereditary hyperferritinemia-cataract syndrome].
abstract: The case of a male infant who was found to have hyperferritinemia was made at the age of 3 months is described. The patient and several members of his family from three generations were diagnosed with hereditary hyperferritinemia-cataract syndrome with a new point mutation in the iron-responsive element of the L-ferritin gene. Differential diagnosis of hyperferritinemia is discussed with emphasis on the need for the knowledge of this entity to avoid unnecessary investigations.
authors.affiliation: Servicio de Pediatría, Hospital de Móstoles, Madrid.
authors.forename: A
authors.initials: A
authors.lastname: Cervera Bravo
authors.forename: M
authors.initials: M
authors.lastname: Sebastían Planas
authors.forename: A
authors.initials: A
authors.lastname: Alarabe Alarabe
authors.forename: A
authors.initials: A
authors.lastname: Díez Sáenz
authors.forename: M J
authors.initials: MJ
authors.lastname: Avilés Egea
authors.forename: A
authors.initials: A
authors.lastname: Balas Pérez
mesh_terms: D002386:Cataract / Q000151:congenital* / Q000235:genetics; D005293:Ferritins / Q000097:blood*; D006801:Humans; D007231:Infant, Newborn; D019189:Iron Metabolism Disorders / Q000151:congenital* / Q000235:genetics; D008297:Male; D010375:Pedigree; D013577:Syndrome
chemical_list: D005293:Ferritins