Persistent pancytopenia and a hypocellular bone marrow after induction chemotherapy in a young adult with acute myelogenous leukemia; What is missing here?

Congenital bone marrow failure syndromes (CBMFS) are generally diagnosed in infancy and early childhood, but may go unrecognized until adulthood. These syndromes are increasingly being diagnosed into adulthood, possibly due to the availability of genetic testing. We describe a young gentleman diagnosed with acute myelogenous leukemia (AML) who underwent induction chemotherapy with resulting persistent pancytopenia and hypocellular bone marrow without any signs of recovery which is usually seen about 4 weeks after induction. He was incidentally found to have near complete fatty replacement of the pancreas on imaging. The constellation of findings was consistent with a CBMFS. The patient was subsequently diagnosed with Shwachman Diamond syndrome.