These occasionally lead to death. Diagnosis is generally made in the first few years of life, although occasionally diagnosis is delayed. Stools contain an excessive amount of fat and are foul smelling and greasy in appearance. Improvement in stools are seen after enzymes replacement therapy is begun. Although weight gain is noted, growth does not seem to improve.
Some older patients are able to discontinue enzyme replacement with no clinical consequences.
As a result of dysfunction of the bone marrow, patients may have a decrease in any or all types of blood cells. Blood cell counts should be monitored regularly. Shwachman-Diamond Syndrome patients have apropensity to myelodysplasia or leukemic transformation, for this reason bone marrow aspirates and biopsies are recommended. Neutropenia Neutropenia is present when the counts are lower than 1500 per microliter. Neutrophils are a type of white blood cell important in fighting bacteria infections.