A trisomy21neonate with CMV infection mimicking acute myeloid leukemia fab-M5

Abstract EN

Hyperbilirubinemia could be a part of Down syndrome; some will develop Transient Abnormal Myelopoiesis (TAM), which present with hepatosplenomegaly.

TORCH screening is a group of blood tests which include testing for congenital cytomegalovirus (cCMV) infection, toxoplasma, rubella, cytomegalovirus, and herpes simplex virus.

We present a case of Down syndrome who had symmetrical intrauterine growth retardation, intrauterine growth restriction (IUGR), anemia, leukocytosis, thrombocytopenia, hepatosplenomegaly and blast cells in the peripheral smear.

A diagnosis of TAM was confirmed initially.

TAM had resolved spontaneously in a month and the patient developed direct hyperbilirubinemia and progressive hepatosplenomegaly with elevated liver enzymes and persistent thrombocytopenia with no blast cells.

A diagnosis of cCMV infection was confirmed.

Congenital infection in Down syndrome may mimic leukemia.

It is important for cCMV to be diagnosed and treated early to avoid the complications.