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J Pediatr Genet 2018; 07(03): 117-121
DOI: 10.1055/s-0038-1636997
Case Report
Georg Thieme Verlag KG Stuttgart · New York

A Case of Shwachman–Diamond Syndrome who Presented with Hypotonia

Zeren Barış
1   Department of Pediatric Gastroenterology, Başkent University Hospital, Beşevler-Çankaya, Ankara, Turkey
,
Figen Özçay
1   Department of Pediatric Gastroenterology, Başkent University Hospital, Beşevler-Çankaya, Ankara, Turkey
,
Lale Olcay
2   Department of Pediatric Hematology, Başkent University Hospital, Beşevler-Çankaya, Ankara, Turkey
,
Serdar Ceylaner
3   Medical Genetics, İntergen Laboratory, Ankara, Turkey
,
Taner Sezer
4   Department of Pediatric Neurology, Başkent University Hospital, Beşevler-Çankaya, Ankara, Turkey
› Author Affiliations Funding None.
Further Information

Publication History

09 November 2017

05 February 2018

Publication Date:
07 March 2018 (online)

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Abstract

We present a patient with failure to thrive and severe hypotonia, who was initially suspected of having a neurometabolic disease but later diagnosed as Shwachman–Diamond syndrome (SDS), which was genetically confirmed. SDS is a multisystemic disease, which is characterized by exocrine pancreatic deficiency, bone marrow dysfunction with increased risk for malignant transformation, and skeletal abnormalities. It should be included in differential diagnosis of patients with failure to thrive and unexplained neurodevelopmental delay with neutropenia.

Keywords

Shwachman–Diamond syndrome - hypotonia - SBDS gene - compound heterozygous
 

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