Pediatric Myelodysplastic Syndromes

incidentally on routine laboratory investigation, or during the work-up for a suspected inherited bone marrow failure (IBMF) syndrome.1-9 More frequently, patients present with symptoms related to occult cytopenias, including fatigue, fever, infection, and/ or bleeding.9 In contrast with adults, pediatric patients with MDS more often present with bicytopenias, rather than isolated anemia. Given the association with IBMF syndromes in many cases, physical examination findings may be particularly informative, and may reveal skeletal, cutaneous, genitourinary, cardiovascular, and/or gastrointestinal anomalies. The combination of cytopenias and a hypocellular bone marrow is alone nonspecific, and therefore the following differential diagnostic considerations warrant exclusion: vitamin and/or mineral deficiencies and zinc toxicity10, viral infections; toxin or drug exposures11; autoimmune and other rheumatologic disorders, such as juvenile rheumatoid arthritis; mitochondrial disorders (eg, Pearson syndrome); various metabolic disorders; inherited anemias; and IBMF syndromes.