Case Reports Hematopathology 2024 Exercise 5: Shwachman-Diamond Syndrome Presenting as a Myeloid Neoplasm in an Adult

Authors

Amanda Thompson, DO

Ashley Satsuki Hagiya, MD

Department of Pathology

Keck School of Medicine of the University of Southern California

Los Angeles, California

Primary Audience: Pathologists and Clinical Scientists
Secondary Audience: Residents, Laboratory Technologist/Scientist (Includes all sub-specialty areas), Students, Pathologist Assistants,  Laboratory Directors and Educators

Upon completion of this activity, you will be able to:

• identify the clinical features of Shwachman-Diamond syndrome (SDS);
• describe the pathogenesis of SDS;
• recognize the difficulties in making the diagnosis of low-grade myelodysplastic neoplasm in SDS; and
• explain the treatment of patients with SDS, including the importance of surveillance.