Case of Fanconi anemia in a child

Fanconi anemia in a child is a rare disease (its frequency is 1:350,000), due to it thorough differential diagnosis with other forms of aplastic anemia is necessary. The prognosis of Fanconi anemia is unfavorable. Conservative therapy and bone marrow transplantation help in 50% of cases. Allogenic transplantation of hematopoietic stem cells (THSC) is the one and only effective treatment approach.Aim: to attract the attention of pediatricians to the diagnosis of rare hematological syndromes.Materials and methods. Description of the clinical case of Fanconi anemia in a child of 5 years old is given. An extended examination of the child and a thorough differential diagnosis with other forms of aplastic anemia has been performed.Results. Based on the evaluation of history, clinical examination, laboratory and instrumental methods of examination, and differentiation with other forms of aplastic anemia the diagnosis of Fanconi anemia was made.Conclusions. The diagnosis of Fanconi anemia requires an extended examination of the child and careful differentiation with other forms of aplastic anemia.