Abstract

Approximately 10% of Down syndrome (DS) newborn develops transient leukemia (TL) also known as transient myeloproliferative disorder (TMD). Rarely, hepatic fibrosis (HF) and severe hepatic dysfunction have been reported in a patient with TL/TMD. Platelet-derived growth factor (PDGF) in combination with TGF-β1 is responsible for HF in such patients. Not only fibrosis of liver, diffuse fibrosis of other organ such as lung, kidney and pancreas are also seen in TMD patients. The triad of DS, TMD and HF is extremely rare. We report a DS neonate with endocardial cushion defect who developed TMD and died due to hepatic failure.

Key words: Down’s syndrome, transient leukemia, endocardial cushion defect, platelet-derived growth factor.