e-ISSN: 2792-0429
Volume: 3 Issue: 02 Year: 2022
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The Difficult Differential Diagnosis for A Pediatric Patient with Shwachman-Diamond Syndrome; A Case Report and Literature Review [TP]
TP. 2022; 3(1): 26-29 | DOI: 10.4274/TP.2022.73645

The Difficult Differential Diagnosis for A Pediatric Patient with Shwachman-Diamond Syndrome; A Case Report and Literature Review

Dilvin Çelik Ateş1, Arzu Akyay2, Zehra Şule Haskoloğlu3, Ünsal Özgen4
1Bezmialem Vakıf University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Hematology and Oncology, İstanbul, Turkey
2İnönü University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Hematology and Oncology, Malatya, Turkey
3Ankara University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Allergy and Immunology, Ankara, Turkey
4Ondokuz Mayıs University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Hematology and Oncology, Samsun, Turkey

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

Dilvin Çelik Ateş, Arzu Akyay, Zehra Şule Haskoloğlu, Ünsal Özgen. The Difficult Differential Diagnosis for A Pediatric Patient with Shwachman-Diamond Syndrome; A Case Report and Literature Review. TP. 2022; 3(1): 26-29

Corresponding Author: Dilvin Çelik Ateş, Türkiye
Manuscript Language: English
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