Abstract
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
Copyright and license
Copyright © 2022 The author(s). This is an open-access article published by Aydın Pediatric Society under the terms of the Creative Commons Attribution License (CC BY) which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.