A Rare Case of Down Syndrome with Acute Megakaryoblastic Leukemia, M7, Managed in KIMS Pediatrics Department


Individuals with Down Syndrome (DS) display various developmental abnormalities, including craniofacial dysmorphia, cardiovascular defects and learning disabilities, but a higher incidence of leukemia (10–20 fold).Even more strikingly, young children (<4 years) with DS have a 500-fold increased incidence of acute megakaryoblastic leukemia (AMKL, also known as ML-DS). The natural history of leukemia in children with DS suggests that trisomy 21 directly contributes to the malignant transformation of hematopoietic cells. In addition, somatic mutations of the GATA1 gene have been detected in nearly all DS AMKL cases and are notably absent in non-DS AMKL. Most strikingly, AML in children with DS shows a favorable response to chemotherapy resulting in a probability of survival between 70% and 90%.

A 2-year old girl with Downs Syndrome (DS) presented to KIMS with the complaints of fever and rashes over limbs for two days. She had no previous history of similar presentation or hospitalization. Karyotyping showed Nondisjunction-trisomy 21. Echocardiography showed Ventricular septal defect and Patent Ductus Arteriosus anomaly. Routine investigations showed pancytopenia with macroovalocytes. The child was treated in the line of febrile neutropenia. Serum B12, and folate assays were within normal limits. Viral markers for Parvovirus (B19), Epstein-Barr virus, Herpes Simplex Virus (HSV-1 & HSV-2) were negative. As the fever did not subside in the next 5 days, she was investigated for the bone marrow aspiration cytology. Though initial bone marrow was a dry tap and repeated bone marrow examination revealed M7 variety of Acute megakaryoblastic leukemia. This is a very rare presentation of Downs Syndrome.

The Paediatrics Department of KIMS is immensely grateful to the sisters and supporting staff for taking care of the kid. It is really a holistic approach involving attendants, sisters, doctors and physiotherapists of the Hospital.

The case was managed by Prof. M.R. Behera, Prof. Nirmal Mohakud, Asso Prof SL Das, Asst. Prof. Palash Das, Dr Nikhita, Dr Jishnu, Dr Jenith, Dr Ravikumar.