Journal of Down Syndrome & Chromosome Abnormalities
Open Access

Abstract

Transient Myeloproliferative Disorder in Neonates with Down syndrome: Case Report and Review

Polacov S, Bertoldi A, Sosa I, Hollmann C and Lerda D

Down syndrome (DS) or trisomy 21 is the most prevalent chromosomopathy. Interesting associations have been documented between DS and various hematopoietic and non-hematopoietic malignancies. Transient myeloproliferative disorder (TMD) is a clonal proliferation of megakaryoblasts, typically occurring in newborns with DS. It is believed that TMD occurs in the presence of GATA-1 mutation together with trisomy 21. The disorder resolved in the majority of patients during the first six months of life, however, 30% of patients can develop acute leukemia or a myelodysplastic syndrome in the first five years of life. In most instances, this unique disorder has the ability to spontaneously “turn off” the overproliferation and enter a state of remission. Only supportive care is recommended for TMD during the first months of life unless the clinical condition requires intervention. This is the report of a preterm newborn with Down syndrome diagnosed with TMD that required chemotherapy on the first days of life due to a poor clinical course and other risk factors for early death. As more cases of this disorder are presented, it is important to share our experience to aid in management and diagnosis.