Akademik Veri Yönetim Sistemi
HAEMA, cilt.8, sa.3, ss.479-480, 2005 (Scopus)
Fanconi anaemia is a rare autosomal recessive disease characterized by multiple congenital abnormalities, bone marrow failure, and cancer tendency. We report a-22 year-old male patient diagnosed with Fanconi anaemia, who had isolated thrombocytopenia. Initially, we thought that the thrombocytopenia was secondary to infection; but the platelet count did not improve after the infection. He had a special physical appearance, brown pigmentation, left renal ectopia, and L5-vertebral dysplasia. Fanconi anaemia, therefore was considered and the diagnosis was confirmed with diepoxybutane test. This case has warranted that Fanconi anaemia could be presented with isolated thrombocytopenia and could be considered the differential diagnosis of thrombocytopenia. Copyright © Hellenic Society of Haematology.