ABSTRACT
Diamond-blakfan anemia (DBA) is a rare condition in pediatric pathology, with more than 500 cases described in literature. It is a congenital eritroblastopenia, with AD/AR/ X-linkage inheritance, 90% were diagnosed by one year of age. Physical appearances were abnormal only in 29%. The current recommendations are corticosteroids, with suportive treatment and bone marrow transplantation. In general, DBA remains a single cytopenia. Long term prognosis remains uncertain, DBA is a preleukemia condition. We present two cases that we took care of in our clinics.
Subject(s)
Anemia, Diamond-Blackfan/diagnosis , Adolescent , Anemia, Diamond-Blackfan/drug therapy , Anemia, Diamond-Blackfan/genetics , Benzoates/therapeutic use , Blood Transfusion , Cardiomyopathy, Dilated/diagnosis , Deferasirox , Deferoxamine/therapeutic use , Drug Therapy, Combination , Female , Glucocorticoids/therapeutic use , Hepatomegaly/diagnosis , Humans , Infant , Iron Chelating Agents/therapeutic use , Male , Prognosis , Siderophores/therapeutic use , Splenomegaly/diagnosis , Testosterone Congeners/therapeutic use , Treatment Outcome , Triazoles/therapeutic useABSTRACT
Kostmann's disease (KD) is a severe congenital neutropenia, a rare autosomal recessive disorder of neutrophil number. Complete blood count with differential reveals an ANC less than 500/mm3 as seen in classic cases, monocytosis and eosinophilia. Bone marrow aspiration or biopsy reveals an arrest of neutrophil precursor maturation at the promielocyte or myelocyte level. KD results in an increased susceptibility to frequent bacterial infections. In the absence of medical intervention with granulocyte colony-stimulating factor (G-CSF), bone marrow transplantation, the mortality rate is 70% within the first year of life. We present three cases to illustrate this rare entity, the difficulty of diagnosis, but also to underline the importance of correct treatment.
