Syndrome of Shwachman and Leukaemia

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-year-old male who was known to suffer from neutropenia and pancreatic dysfunction from early childhood, presented with fever, acquired Pelger-Huet anomaly (of the polymorphonuclear granulocytes) and sideroblastic anaemia, a combination of symptoms suggestive of preleukaemia. A few months later he died of acute myeloblastic leukaemia and autopsy showed a dystrophic pancreas. Considering this case history it seems possible that the haematological anomalies of Shwachman's syndrome are signs of preleukaemia. Careful follow-up of patients suffering from Shwachman's syndrome seems warranted.