Neonatal “ Transient Myeloproliferative Disorder Vsaml” In Down’s Syndrome – A Diagnostic Dilemma.

Abstract

Transient myeloproliferativedisorder (TMPD)is a self resolvingcondition usually indistinguishable from megakaryocytic leukemia which usually occurs in 10% of newborns with Down’s syndrome (trisomy21). A 2 day old was boy was admitted for poor feeding &hyperleucocytosis. It was a case of Down’s syndrome with a karyotype of 47, XY, +21 presenting with VSD & hepatomegaly. A diagnosis of AML-M7 with erythroid differentiation was made on flow cytometry.TMPD & AML-M7 cannot be differentiated clinically & even by PBS & flow cytometry& the only way to differentiate these conditions is molecular genetics for GATA1. It is very important to differentiate TMPD & AML-M7 because the former undergoes spontaneous regression within 3 months & patient is recovered without any treatment. Approximately 20-30 % of TMPD progress to AML-M7 usually within 1year.Take home message:It is very important to differentiate TMPD from AML as the former resolves spontaneously without any treatment