Diagnosis and Management of Myelodysplastic Syndrome in a Fanconi Anemia Patient: A Case Report

An uncommon genetic condition known as Fanconi anemia (FA) is characterized by bone marrow failure, chromosomal instability, and a high susceptibility to cancer. We report a case study of a patient diagnosed with FA who subsequently developed myelodysplastic syndrome (MDS). Informed consent was obtained from the patient’s parents/legal guardians. Consent for publication was obtained from the patient’s parents/legal guardians. We present a case of a 10-year-old boy with a known diagnosis of FA who experienced a decline in platelet count and subsequent bone marrow abnormalities suggestive of MDS. Cytogenetic analysis confirmed the diagnosis of FA with multiple chromosomal breaks, and flow cytometric analysis supported the diagnosis of MDS with excess blasts. The patient underwent a stem cell transplantation from a full matched donor (his father). Stem cell transplantation from a fully matched related donor can be effective in treating FA and associated complications. The transplantation was complicated by graft-versus-host disease and cytomegalovirus infection, however the child achieved complete normalization and exhibited no signs of diarrhea or dependence on immunosuppressive drugs at the six-month follow-up. The case report emphasizes the significance of multidisciplinary care and close follow-up for pediatric FA and MDS patients, suggesting further research and standardization of diagnostic procedures.