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5/13/2026 9:09:34 AM | Browse: 18 | Download: 35
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Received |
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2025-11-25 04:21 |
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Peer-Review Started |
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2025-11-25 04:22 |
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First Decision by Editorial Office Director |
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2026-01-08 07:48 |
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Return for Revision |
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2026-01-08 07:48 |
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Revised |
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2026-01-17 16:25 |
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Publication Fee Transferred |
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2026-01-25 20:34 |
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Second Decision by Editor |
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2026-03-05 02:39 |
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Second Decision by Editor-in-Chief |
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Final Decision by Editorial Office Director |
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2026-03-05 11:00 |
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Articles in Press |
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2026-03-05 11:00 |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2026-04-24 02:14 |
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Publish the Manuscript Online |
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2026-05-13 08:18 |
| ISSN |
2219-2808 (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 |
Prolonged survival in Menkes disease with a novel ATP7A variant: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Yusuf Hadi, Nader Khawaja, Hadhami Ben Turkia, Minoosh Nasef and Sarra Baili |
| Funding Agency and Grant Number |
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| Corresponding Author |
Yusuf Hadi, MD, Department of Pediatrics, King Hamad University Hospital, Juffair, House 2348 Road 2436 Block 324, Muharraq 24343, Bahrain. yousif401@hotmail.com |
| Key Words |
Copper; Menkes disease; ATP7A gene; Seizures; Connective tissue; Bladder diverticula; Pseudoaneurysm; Case report |
| Core Tip |
This case report presents the first documented instance of Menkes disease (MD) in Bahrain, caused by a novel splice-site variant in the ATP7A copper-transport gene. The patient demonstrated an intermediate phenotype bridging classical MD and occipital horn syndrome, with atypical early neuroimaging findings and prolonged survival to 6 years and 9 months. Despite copper-histidine therapy, progressive neurological and connective tissue complications, including a giant bladder diverticulum and multiple vascular pseudoaneurysms, developed. This case highlights the expanding phenotypic spectrum of ATP7A-related disorders and underscores the need for early diagnosis and vigilant surveillance. |
| Publish Date |
2026-05-13 08:18 |
| Citation |
Hadi Y, Khawaja N, Ben Turkia H, Nasef M, Baili S. Prolonged survival in Menkes disease with a novel ATP7A variant: A case report. World J Clin Pediatr 2026; 15(2): 116956 |
| URL |
https://www.wjgnet.com/2219-2808/full/v15/i2/116956.htm |
| DOI |
https://dx.doi.org/10.5409/wjcp.v15.i2.116956 |
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