Introduction: Down Syndrome (DS) patients have an increased risk of developing all types of malignancy, including hematological cancer. The malignancy usually occur in the first third years of life. Acute Myeloblastic Leukemia (AML) is commonly found in early childhood of DS patients with its risk increased 46 to 83 fold. The most cases of AML in DS patients are Acute Megakaryoblastic Leukemia (AMKL) or M7 as per FAB classification (AMKL-M7). In the other hand, DS are at greater risk of developing thyroid diseases, espescially hypothyroidism. Hypothyroidism are 28 times more common in DS than in healthy infants. However, the number of DS cases that developed into both AMKL-M7 and hypothyroidism is rare.
Case Presentation: In this study, we report a case of DS patient with AMKL-M7 and hypothyroidism in Yogyakarta, Indonesia. An 18-month-old female infants was admitted due to intermitten fever for the last 1 month. The patient was then diagnosed with DS presenting with AMKL-M7, hypothyoridism, neutropenic fever and suspect of Ventricular Septal Defect (VSD).
Discussion: This case illustrates the challenges in the further laboratory diagnosis and laboratory monitoring of Down Syndrom patient with AMKL-M7 and hypothiroidism to improve patient outcome.
Keywords: Acute Myeloblastic Leukemia, Acute Megakarioblastic Leukemia, M7, Down Syndrome, Hypothiroid