5q- syndrome is a rare myelodysplastic process occurring predominately in middle aged to elderly women. In children, myelodysplasia of all types is rare and 5q- syndrome is exceptionally rare. Only 6 cases of 5q- associated myelodysplasia have been reported in children and all 6 cases had blast counts >5% and/or additional cytogenetic abnormalities. We report a case of 5q- syndrome in a girl who presented with macrocytosis and intermittent pancytopenia at age 5. Cytogenetic studies at age 8 revealed a large interstitial deletion of chromosome 5q without other cytogenetic abnormalities. The patient was clinically stable until age 11, when she became transfusion dependent and severely neutropenic. Subsequently, she underwent a successful unrelated cord blood transplant. To our knowledge, this is the first reported pediatric case meeting the strict criteria for 5q- syndrome.
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