Which histologic findings are characteristic of Shwachman-Diamond syndrome (SDS)?

Updated: Nov 17, 2020
  • Author: Antoinette C Spoto-Cannons, MD, FAAP; Chief Editor: Hassan M Yaish, MD  more...
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Answer

See the list below:

  • Biopsy of the pancreas of a person with Shwachman-Diamond syndrome reveals mostly adipose tissue containing the islets of Langerhans with very few elements of exocrine gland structure present. [44] The pancreas of patients with cystic fibrosis usually has fibrosis rather than lipomatosis, as is observed in patients with Shwachman-Diamond syndrome and Johanson-Blizzard syndrome. Routine biopsy of the pancreas is not indicated.

  • Periodically perform bone marrow evaluation studies because of the predilection for developing marrow failure and leukemic transformation (5-33% of patients with Shwachman-Diamond syndrome), including acute myeloid leukemia, acute lymphoid leukemia, and juvenile chronic myeloid leukemia. However, examination of the bone marrow in a person with Shwachman-Diamond syndrome typically reveals hypocellularity, with maturation arrest in the myeloid series and fat infiltration. Megakaryocytes may be within the reference range or decreased in number. [44, 68]

  • The liver of an individual with Shwachman-Diamond syndrome may exhibit periportal fibrosis, [70] periportal mononuclear infiltrate, and fibrous bridging between the portal tract areas. Cirrhosis and steatosis have been reported.

  • Endocardial fibrosis may be exhibited in the heart of a person with Shwachman-Diamond syndrome.


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