[Isolated hyperferritinemia in a healthy male infant: hereditary hyperferritinemia-cataract syndrome].
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.
Cervera Bravo
A
A
Servicio de Pediatría, Hospital de Móstoles, Madrid.
Sebastían Planas
M
M
Alarabe Alarabe
A
A
Díez Sáenz
A
A
Avilés Egea
M J
MJ
Balas Pérez
A
A
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
D005293:Ferritins