Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Shwachman's syndrome and leukaemia

  • 18 Accesses

  • 12 Citations


The clinical and morphological characteristics of Shwachman's syndrome (exocrine pancreatic insufficiency, pancytopenia, skeletal changes) were observed in a boy who, at the age of 8 years, developed a juvenile form of chronic myeloic leukemia which did not respond to cytostatic treatment. Autopsy revealed a striking lipomatous atrophy of the pancreas, defects in the ossification zones of the bones and marked dwarfism. In addition there was leukaemic infiltration of the pancreas, the spleen, the liver and the lymph nodes. The association of Shwachman's syndrome with leukaemia is a rare, but remarkable complication of this entity because of its relationship to the preceeding pancytopenia. Thorough follow-up of the haematological status of patients with Shwachman's syndrome is recommended.

This is a preview of subscription content, log in to check access.


  1. Beyreiss, K.: Exokrine Pankreasinsuffizienz, Neutropenie, metaphysäre 0 tose und Kinderwuchs. (Shwachman-Syndrom) mit passagerer Störung des Kokkhydratstoffwechsels. Z. Inn. Med. 29, 337–339 (1974)

  2. Bodian, M., Sheldon, W., Lightwood, R.: Congenital hypoplasia of the exocrine pancreas. Acta Paediat. (Stockh.) 53, 282–293 (1964)

  3. Burke, V., Colebatch, J.H., Anderson, C.M., Simous, M.J.: Association of pancreatic insufficiency and chronic neutropenia in childhood. Arch. Dis. Childh. 42, 147–157 (1967)

  4. Delling, G.: Endokrine Osteopathien, Endocrine bone diseases. In: Veröffentlichungen aus der Pathologie, Heft 98. Stuttgart: Gustav Fischer 1975

  5. Giedion, A., Prader, A., Hadorn, B., Shmerling, D.H., Auricchio, S.: Metaphysäre Dysostose und angeborene Pankreasinsuffizienz. Fortschr. Röntgenstr. 108, 51–57 (1968)

  6. Hadorn, B.: Diseases of the pancreas in children. Clin. Gastroenterol. 1, 125–145 (1972)

  7. Huijgens, P.C., van der Veen, E.A., Meijer, S., Muntinghe, O.G.: Syndrome of Shwachman and leukaemia. Scand. J. Haematol. 18, 20–24 (1977)

  8. Lebenthal, E., Shwachman, H.: The pancreas-development, adaptation and malfunction in infancy and childhood. Clin. Gastroenterol. 6, 397–413 (1977)

  9. Lücking, Th., Grüttner, R.: Exokrine Pankreasinsuffizienz, Neutropenie, metaphysäre Dysosteose und Minderwuchs (Shwachman-Syndrom). Dtsch. med. Wochenschr. 97, 902–906 (1972)

  10. Saarni, M.I., Linman, J.W.: Preleukemia. The hematologic syndrome preceding acute leukemia. Am. J. Med. 55, 38–48 (1973)

  11. Shmerling, D.H., Prader, A., Hitzig, W.H., Giedon, A., Hadorn, B., Kühni, M.: The syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dystosis and dwasfism. Helv. Paediat. Acta 24, 547–575 (1969)

  12. Seifert, G.: Lipomatöse cystische Pankreasfibrose und lipomatöse Pankreasatrophie des Kindesalters. Beiträge path. Anat. allg. Pathol. 121, 64–80 (1959)

  13. Shwachman, H., Diamond, K., Oski, F.A., Khaw, K.: Pancreatic insufficiency and gone morrow depfunction. A new clinical entity. Pediatrica 63, 835–837 (1963)

  14. Shwachman, H., Diamond, L.K., Oski, F.A., Khaw, K.: The syndrome of pancreatic insufficiency and bone marrow dysfunction. J. Pediatr. 65, 645–663 (1964)

  15. Strevens, M.J., Lilleyman, J.S., Williams, R.B.: Shwachman's syndrome and acute lymphoblastic leukaemia. Br. Med. J. 18 (1978)

  16. Taybi, H., Mitchell, A.D., Friemban, G.D.: Metaphyseal dysostosis and the associated syndrome of pancreatic insufficiency and blood disorders. Radiology 93, 563–571 (1969)

  17. Wintrobe, M.M., Lee, G.R., Boggs, D.R., Bithell, T.C., Athens, J.W., Foerster, J.: Clinical hematology. Philadelphia: Lea and Febiger 1975

Download references

Author information

Correspondence to J. Caselitz.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Caselitz, J., Klöppel, G., Delling, G. et al. Shwachman's syndrome and leukaemia. Virchows Arch. A Path. Anat. and Histol. 385, 109–116 (1979).

Download citation

Key words

  • Shwachman's syndrome
  • Leukaemia
  • Pancreatic atrophy