A Case of Shwachman–Diamond Syndrome who Presented with Hypotonia

Zeren Barış; Figen Özçay; Lale Olcay; Serdar Ceylaner; Taner Sezer

doi:10.1055/s-0038-1636997

Journal of Pediatric Genetics, Table of Contents

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

Authors

Zeren Barış

¹Department of Pediatric Gastroenterology, Başkent University Hospital, Beşevler-Çankaya, Ankara, Turkey
Figen Özçay

¹Department of Pediatric Gastroenterology, Başkent University Hospital, Beşevler-Çankaya, Ankara, Turkey
Lale Olcay

²Department of Pediatric Hematology, Başkent University Hospital, Beşevler-Çankaya, Ankara, Turkey
Serdar Ceylaner

³Medical Genetics, İntergen Laboratory, Ankara, Turkey
Taner Sezer

⁴Department of Pediatric Neurology, Başkent University Hospital, Beşevler-Çankaya, Ankara, Turkey

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

Full Text

References

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