Fanconi Anemia in a Young Adult Male Presenting with Pancytopenia and Bilateral Ectopic Kidneys.

abstractFanconi anemia (FA) is a rare inherited disorder of bone marrow failure that presents with progressive pancytopenia, multiple congenital abnormalities, and an increased predisposition to various malignancies. We describe a 19-year-old male who reported generalized weakness, shortness of breath on exertion, and a dry cough persisting for 1 month. He had undergone three blood transfusions within the preceding 3 months. Clinical examination revealed marked pallor without evidence of jaundice, cyanosis, clubbing, or lymphadenopathy. Laboratory investigations showed pancytopenia, while bone marrow biopsy demonstrated normocellular marrow with trilineage hematopoiesis and mild hemophagocytosis. Radiological assessment identified bilateral ectopic kidneys, and serum ferritin levels were significantly elevated (2753.93 ng/mL). These findings raised a strong clinical suspicion of FA, which was subsequently confirmed through comprehensive genetic testing. This case underscores the importance of considering FA in young adults with unexplained pancytopenia and congenital anomalies, highlighting the need for an integrated, multidisciplinary diagnostic and management approach.