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

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

› Author Affiliations

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

References
1 Myers K. . Shwachman-Diamond Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K. , eds. GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993–2017
2 Beşer ÖF, Çokugras FC, Erkan T, Kutlu T, Adaletli I, Kuruğoğlu S. Shwachman-Diamond syndrome with development of bone formation defects during prenatal life. J Pediatr Gastroenterol Nutr 2014; 58 (04) e38-e40
3 Myers KC, Davies SM, Shimamura A. Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update. Hematol Oncol Clin North Am 2013; 27 (01) 117-128 , ix
4 Mäkitie O, Ellis L, Durie PR. , et al. Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS. Clin Genet 2004; 65 (02) 101-112
5 Myers KC, Bolyard AA, Otto B. , et al. Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry. J Pediatr 2014; 164 (04) 866-870
6 Dhanraj S, Matveev A, Li H. , et al. Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. Blood 2017; 129 (11) 1557-1562
7 Stepensky P, Chacón-Flores M, Kim KH. , et al. Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in a Shwachman-Diamond like syndrome. J Med Genet 2017; 54 (08) 558-566
8 Gokce M, Tuncer M, Cetin M, Gumruk F. Molecular diagnosis of Shwachman-Diamond syndrome presenting with pancytopenia at an early age: the first report from Turkey. Indian J Hematol Blood Transfus 2013; 29 (03) 161-163
9 Ip WF, Dupuis A, Ellis L. , et al. Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome. J Pediatr 2002; 141 (02) 259-265
10 Durie PR, Rommens JM. Shwachman-Diamond syndrome. In: Walker WA, Goulet O, Kleinman RE, Sherman PM, Shneider BL, Sanderson IR. , eds. Pediatric Gastrointestinal Disease. 4th ed. Lewiston, NY: BC Decker Inc; 2004: 1624-1633
11 Shah N, Cambrook H, Koglmeier J. , et al. Enteropathic histopathological features may be associated with Shwachman-Diamond syndrome. J Clin Pathol 2010; 63 (07) 592-594
12 Toiviainen-Salo S, Mäyränpää MK, Durie PR. , et al. Shwachman-Diamond syndrome is associated with low-turnover osteoporosis. Bone 2007; 41 (06) 965-972
13 Ginzberg H, Shin J, Ellis L. , et al. Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J Pediatr 1999; 135 (01) 81-88
14 Bessler M, Mason PJ, Link DC, Wilson DB. Inherited bone marrow failure syndromes. In: Orkin SH, Fisher DE, Ginsburg D, Look AT, Lux SE, Nathan DG. , eds. Nathan and Oski's Hematology and Oncology of Infancy and Childhood. 8th ed. Philadelphia: Elsevier; 2015: 182-253.e17
15 Capasso L, Borrelli AC, Cerullo J, Pirozzi MR, Raimondi F. Thoracic hypoplasia at birth as presenting feature of Shwachman-Diamond syndrome in twins. J Pediatr Genet 2016; 5 (03) 158-160
16 Aggett PJ, Cavanagh NP, Matthew DJ, Pincott JR, Sutcliffe J, Harries JT. Shwachman's syndrome. A review of 21 cases. Arch Dis Child 1980; 55 (05) 331-347
17 Topa A, Tulinius M, Oldfors A, Hedberg-Oldfors C. Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation. Am J Med Genet A 2016; 170A (05) 1155-1164
18 Toiviainen-Salo S, Mäkitie O, Mannerkoski M, Hämäläinen J, Valanne L, Autti T. Shwachman-Diamond syndrome is associated with structural brain alterations on MRI. Am J Med Genet A 2008; 146A (12) 1558-1564
19 Perobelli S, Alessandrini F, Zoccatelli G. , et al. Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach. Neuroimage Clin 2015; 7: 721-731