Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease characterized by bone marrow dysfunction, exocrine pancreatic insufficiency and skeletal abnormalities. Persistent or intermittent neutropenia caused by bone marrow hypoplasia is the most common hematological abnormality in SDS. It can be difficult to diagnose the disease that usually occurs in early childhood. SDS should be kept in mind in the differential diagnosis of neutropenic patients. If the signs of pancreatic insufficiency are not observed, the diagnosis may be missed. The article wanted to present a patient with pancreatic insufficiency and SDS with the biallelic mutation who presented with neutropenia in a newborn.

Keywords: Shwachman-Diamond syndrome, Neutropenia, Biallelic mutation, Bone marrow transplantation

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Çelik Ateş D, Akyay A, Haskoloğlu ZŞ, Özgen Ü. The Difficult Differential Diagnosis for A Pediatric Patient with Shwachman-Diamond Syndrome; A Case Report and Literature Review. Trends in Pediatrics. 2022;3(1):26-9. https://doi.org/10.4274/TP.2022.73645