Pancitopenia por anemia de Fanconi: presentación de un caso clínico. Pancitopeny in Fanconi anemia: case report.

Fanconi's anemia is a genetic disease characterized by an alteration in the repair of to the DNA that expresses with physical and hematologic alterations. It is a rare congenital disease; it is the first cause for aplastic anemia in infants. It has an adverse course for both the worsening of the hematologic parameters and the augmented risk of hematologic malignancy. The only curative treatment is bone marrow transplant. We present a case report of a 3 year old boy, with jew parents, carrier of minor and mayor malformations, who during an infectious episode caused by Mycoplasma pneumoniae which evolved into a severe pancytopenia. The case study involved from infectious and immunological etiologies search to bone marrow evaluation. The clinical features, its persistence and the study results, guided to look for a genetic condition that would explain the situation. Among this approach a chromosome fragility study in lymphocytes T was conducted, which allowed to confirm Fanconi Anemia diagnosis. Currently, the patient is 4 years old, remains in relatively stable conditions and requires periodical transfusions while the evaluation for hematopoietic stem cells transplant takes place.