Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia

• Main Authors: Ong, Shin Yeu, Li, Shao-Tzu, Wong, Gee Chuan, Ho, Aloysius Yew Leng, Nagarajan, Chandramouli, Ngeow, Joanne
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2018
• Subjects: Shwachman Diamond Syndrome; Inherited Bone Marrow Failure Syndrome
• Online Access: https://hdl.handle.net/10356/85574; http://hdl.handle.net/10220/45198
• Institution: Nanyang Technological University

Inherited bone marrow failure syndrome (IBMFS) including Shwachman Diamond Syndrome (SDS) can present initially to the hematologist with myelodysplastic syndrome (MDS). Accurate diagnosis affects choice of chemotherapy, donor selection, and transplant conditioning. We report a case of delayed diagnosis of SDS in a family with another child with aplastic anemia, and review reported cases of SDS in Asia. This highlights the gap in identifying inherited bone marrow failure syndromes in adults with hematologic malignancies.