title: Congenital refractory anaemia with vacuolisation of bone marrow precursors, sideroblastosis and growth failure in a girl with normal endocrine pancreatic function.
abstract: The case is described of an 8-years-old girl with consanguineous parents. She was apparently well, apart, from growth retardation, until 18 months of age when she developed severe normocytic hypochromic anaemia. Bone marrow examination revealed vacuolisation of the erythroid and myeloid precursor, and electron microscopic studies showed striking sideroblastosis with ringed arrangement of the iron granules. Porphyrin metabolism was apparently normal, whereas blood levels of iron and ferritin were high. A careful study of the exocrine pancreas showed completely normal function. Vitamin B6 administration was unsuccessful. The patient is transfusion-dependent, and iron chelation treatment has produced good results. The case could be a new entity or a variant of congenital sideroblastic anaemia, since it has some features in common with the syndrome described by Pearson et al.
authors.forename: G
authors.initials: G
authors.lastname: Sansone
authors.forename: G
authors.initials: G
authors.lastname: Masera
authors.forename: S
authors.initials: S
authors.lastname: Terzoli
authors.forename: A
authors.initials: A
authors.lastname: Cantù-Rajnoldi
mesh_terms: D000753:Anemia, Refractory / Q000150:complications / Q000151:congenital*; D000756:Anemia, Sideroblastic / Q000150:complications / Q000151:congenital*; D002648:Child; D005260:Female; D006130:Growth Disorders / Q000150:complications / Q000473:pathology*; D006412:Hematopoietic Stem Cells / Q000473:pathology*; D006801:Humans; D007515:Islets of Langerhans / Q000502:physiology*; D014617:Vacuoles / Q000473:pathology*