title: 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.
mesh_terms: D000328:Adult; D000756:Anemia, Sideroblastic / Q000150:complications / Q000473:pathology; D001855:Bone Marrow Diseases / Q000150:complications* / Q000473:pathology; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000209:etiology* / Q000473:pathology; D008297:Male; D009503:Neutropenia; D010179:Pancreas / Q000473:pathology; D010182:Pancreatic Diseases / Q000150:complications* / Q000473:pathology; D013577:Syndrome