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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Mericq, Veronica / Toppari, Jorma

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Volume 32, Issue 5


Two siblings with Gaucher type 3c: different clinical presentations

Miray KarakoyunORCID iD: https://orcid.org/0000-0002-6533-6256 / Ebru CandaORCID iD: https://orcid.org/0000-0002-9175-1998 / Ezgi Kiran TasciORCID iD: https://orcid.org/0000-0001-5842-0292 / Eser DoganORCID iD: https://orcid.org/0000-0002-0340-7741 / Mahmut CokerORCID iD: https://orcid.org/0000-0001-6494-9539 / Sema AydogduORCID iD: https://orcid.org/0000-0002-1678-7552
Published Online: 2019-04-26 | DOI: https://doi.org/10.1515/jpem-2018-0549



Gaucher disease (GD) is a lysosomal storage disorder caused by autosomal recessive mutations in the glucocerebrosidase (GBA) gene, which encodes acid β-glucosidase. GD type 3c is a rare group characterised by cardiovascular involvement, and homozygous D448H is the most frequent mutation.

Case presentation

We describe two patients who had homozygous D448H mutations. The index patient had hepatosplenomegaly, liver insufficiency and cardiac involvement and her sister had severe cardiac involvement with cardiomyopathy and diffuse aortic calcification. The index case’s liver was transplanted at the age of 6 months from a related donor and her sister who had severe cardiovascular disease died at the age of 12 years.


Our patients had clinical variability. We need to discuss whether liver involvement could be the initial signs in patients with GD type 3c.

Keywords: cardiomyopathy; Gaucher disease type 3c; liver failure; transplantation


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About the article

Corresponding author: Miray Karakoyun, MD, Ege University Medicine School, Department of Pediatric Gastroenterology, Hepatology and Nutrition, Izmir 35170, Turkey, Phone: +90 232 4696969, Fax: +90 232 433 07 56

Received: 2018-12-26

Accepted: 2019-03-06

Published Online: 2019-04-26

Published in Print: 2019-05-27

Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

Informed Consent: Written informed consent was obtained from the parents and the patient who participated in this study.

Conflict of interest: There are no conflicts of interest and funding.

Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 32, Issue 5, Pages 533–536, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2018-0549.

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