African Journal of Medical Case Reports

African Journal of Medical Case Reports Vol. 8 (6), pp. 001-004, June, 2020. © International Scholars Journals

Case Report

Transient myeloproliferative disorder and hepatic failure in a newborn with Down syndrome

Mahua Roy¹, Sanjoy Sengupta² and T. K. Sabui³

¹Pediatric Medicine, DR. B. C. Roy Post Graduate Institute of Pediatric Sciences, Kolkata, India.

²Department of Pathology, Post Graduate Institute of Pediatric Sciences, Kolkata, India.

³Department of Pediatric Medicine, North Bengal Medical College, Darjeeling, India.

Accepted 18 May, 2020

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.