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 [DOI: 10.5409/wjcp.v15.i2.116956]
Corresponding Author of This Article
Yusuf Hadi, MD, Department of Pediatrics, King Hamad University Hospital, Juffair, House 2348 Road 2436 Block 324, Muharraq 24343, Bahrain. yousif401@hotmail.com
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Pediatrics
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Case Report
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Jun 9, 2026 (publication date) through May 16, 2026
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World Journal of Clinical Pediatrics
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2219-2808
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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 [DOI: 10.5409/wjcp.v15.i2.116956]
World J Clin Pediatr. Jun 9, 2026; 15(2): 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, Nader Khawaja, Hadhami Ben Turkia, Minoosh Nasef, Sarra Baili
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. yousif401@hotmail.com
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
Abstract
BACKGROUND
Menkes disease (MD) is an uncommon, X-linked recessive neurodegenerative disorder caused by mutations in the copper-transporting ATP7A gene, leading to defective copper metabolism. Progressive neurological dysfunction, connective tissue abnormalities, characteristic skeletal and hair findings are defining features of the disease. The prognosis of the classical variant is poor since the majority of patients expire by the age of 3 years. This report presents the first documented case of MD in the Kingdom of Bahrain with a novel ATP7A variant.
CASE SUMMARY
We report a 45-day old male infant presenting with focal seizures and hypotonia. Fair, redundant skin and abnormal hair pigmentation was noted. Neuroimaging revealed classical MD findings like subdural hematoma and arterial tortuosity. In addition, cortical laminar necrosis and craniosynostosis were observed. Diagnostic work-up revealed low serum copper and ceruloplasmin levels with high dopamine levels. Eventually, a novel splice-site mutation in the ATP7A gene was identified using Sanger gene sequencing. A trial of copper-histidine therapy started at the age of 4 months was largely unsuccessful in controlling the disease, with minimal dermatological benefits. Later, the patient developed a large bladder diverticulum at the age of 4 years followed by multiple vascular aneurysms and pseudoaneurysms at 6 years. The patient passed away by the age of 6 years and 9 months most likely due to an aneurysmal rupture.
CONCLUSION
This case illustrates an intermediate phenotype which could be influenced by the new ATP7A variant and demonstrates the phenotypic continuum spectrum in Menkes disease.
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.
