Copyright: ©Author(s) 2026. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution-NonCommercial (CC BY-NC 4.0) license. No commercial re-use. See permissions. Published by Baishideng Publishing Group Inc.
World J Clin Pediatr. Jun 9, 2026; 15(2): 116956
Published online Jun 9, 2026. doi: 10.5409/wjcp.v15.i2.116956
Published online Jun 9, 2026. doi: 10.5409/wjcp.v15.i2.116956
Prolonged survival in Menkes disease with a novel ATP7A variant: A case report
Yusuf Hadi, Hadhami Ben Turkia, Minoosh Nasef, Department of Pediatrics, King Hamad University Hospital, Muharraq 24343, Bahrain
Nader Khawaja, Department of Internal Medicine, King Hamad University Hospital, Muharraq 24343, Bahrain
Sarra Baili, Dentistry, Nizhny Novgorod State Medical University, Nizhny Novgorod 603950, Russia
Author contributions: Khawaja N, Hadi Y, Turkia HB, Nasef M, and Baili S conceived and planned the study; Khawaja N, Hadi Y, Turkia HB, Nasef M, and Baili S reviewed and reported the study; Khawaja N, Hadi Y, and Turkia HB were involved in drafting and writing the manuscript; all authors contributed to reviewing the final manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: All authors declare that they have no conflict of interest to disclose.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Corresponding author: Yusuf Hadi, MD, Department of Pediatrics, King Hamad University Hospital, Juffair, House 2348 Road 2436 Block 324, Muharraq 24343, Bahrain.
Received: November 25, 2025
Revised: January 17, 2026
Accepted: March 5, 2026
Published online: June 9, 2026
Processing time: 169 Days and 14.2 Hours
Revised: January 17, 2026
Accepted: March 5, 2026
Published online: June 9, 2026
Processing time: 169 Days and 14.2 Hours
Core Tip
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.