| ISSN |
2307-8960 (online) |
| Open Access |
This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ |
| Copyright |
©Author(s) (or their employer(s)) 2026. No commercial re-use. See Permissions. Published by Baishideng Publishing Group Inc. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Pediatrics |
| Manuscript Type |
Case Report |
| Article Title |
De novo ARID1A Coffin-Siris syndrome, with hypothyroidism and dyslipidemia: A case report and review of literature
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| Manuscript Source |
Invited Manuscript |
| All Author List |
Michael N Fragos, Ilektra Toulia, Maria G Grammatikopoulou, Parthena Savvidou, Ioannis Taiganidis, Panagiota Zissiadis, Charalampos Antachopoulos, Dimitrios G Goulis and Kyriaki Tsiroukidou |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Maria G Grammatikopoulou, Assistant Professor, PhD, Immunonutrition Unit, Department of Rheumatology and Clinical Immunology, University General Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Biopolis Campus, Argonafton & Filellinon Street, Larissa GR-41223, Greece. mgrammat@uth.gr |
| Key Words |
Coffin-Siris syndrome; Short stature; Hypercholesterolemia; Subclinical hypothyroidism; Dual molecular diagnosis; Diet; Neurodevelopmental disorder; Growth hormone deficiency; Lifestyle intervention; Neurodivergent; Case report |
| Core Tip |
Coffin-Siris syndrome (CSS) is a rare neurodevelopmental disorder involving the BRG1/BRM-associated factor (SWI/SNF) chromatin-remodeling complex, characterized by coarse facial features, distal phalanx hypoplasia/aplasia, developmental delay, and multisystem involvement. We report a child with CSS, subclinical hypothyroidism, and familial hypercholesterolemia caused by a heterozygous LDLR variant. Lifestyle changes and levothyroxine improved growth initially (7.6 cm/year), but later on, growth velocity declined (4.2 cm/year) in parallel to insulin-like growth factor 1 levels. A glucagon stimulation test confirmed growth hormone (GH) deficiency. Recombinant GH therapy in ARID1A-related CSS should be individualized because impaired tumor suppression and possible hepatocyte damage may increase hepatoblastoma risk. |
| Publish Date |
2026-07-02 08:02 |
| Citation |
Fragos MN, Toulia I, Grammatikopoulou MG, Savvidou P, Taiganidis I, Zissiadis P, Antachopoulos C, Goulis DG, Tsiroukidou K. De novo ARID1A Coffin-Siris syndrome, with hypothyroidism and dyslipidemia: A case report and review of literature. World J Clin Cases 2026; 14(19): 120716
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| URL |
https://www.wjgnet.com/2307-8960/full/v14/i19/120716.htm |
| DOI |
https://doi.org/10.12998/wjcc.120716 |
