Syndrome of Shwachman and Leukaemia

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Abstract
The syndrome of Shwachman is characterized by pancreatic insufficiency and bone marrow dysfunction, usually manifesting itself as neutropenia. The pancreas shows replacement of the exocrine glands by adipose tissue. Sweat electrolytes are normal. A 23 yr old male who had neutropenia and pancreatic dysfunction from early childhood, presented with fever, acquired Pelger-Huet anomaly (of the polymorphonuclear granulocytes) and sideroblastic anemia, a combination of symptoms suggestive of preleukemia. A few months later he died of acute myeloblastic leukemia and autopsy showed a dystrophic pancreas. Considering this case history seems possible that the hematological anomalies of Shwachman''s syndrome are signs of preleukemia. Careful follow-up of patients with Shwachman''s syndrome seems warranted.