Djamandi P, Gorica H, Kyriakou O, Xhukellari E, Rroji A, Vyshka G. Late-onset neurological manifestations of X-linked adrenoleukodystrophy in a male with childhood-onset Addison’s disease: A case report. World J Clin Cases 2026; 14(11): 119232 [DOI: 10.12998/wjcc.v14.i11.119232]
Corresponding Author of This Article
Gentian Vyshka, MD, Department of Biomedical and Experimental, Faculty of Medicine, University of Medicine, Rr. Dibres 371, Tirana 1005, Albania. gvyshka@gmail.com
Research Domain of This Article
Neurosciences
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Case Report
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Apr 16, 2026 (publication date) through Apr 15, 2026
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Publication Name
World Journal of Clinical Cases
ISSN
2307-8960
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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
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Djamandi P, Gorica H, Kyriakou O, Xhukellari E, Rroji A, Vyshka G. Late-onset neurological manifestations of X-linked adrenoleukodystrophy in a male with childhood-onset Addison’s disease: A case report. World J Clin Cases 2026; 14(11): 119232 [DOI: 10.12998/wjcc.v14.i11.119232]
Pavllo Djamandi, Olga Kyriakou, Ergys Xhukellari, Division of Neurosciences, University Hospital Center Mother Teresa, Tirana 1005, Albania
Hajdi Gorica, Service of Neurology, Trauma University Hospital Center, Tirana 1005, Albania
Arben Rroji, Department of Neuroscience, University of Medicine, Tirana 1000, Albania
Gentian Vyshka, Department of Biomedical and Experimental, Faculty of Medicine, University of Medicine, Tirana 1005, Albania
Author contributions: Djamandi P, Gorica H, Kyriakou O, and Rroji A contributed to manuscript drafting, patient consulting, treatment and follow-up; Djamandi P, Xhukellari E, and Vyshka G contributed to manuscript writing and revising, literature review; and all authors have read and approved the final manuscript.
Informed consent statement: Written informed 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: Gentian Vyshka, MD, Department of Biomedical and Experimental, Faculty of Medicine, University of Medicine, Rr. Dibres 371, Tirana 1005, Albania. gvyshka@gmail.com
Received: January 23, 2026 Revised: February 12, 2026 Accepted: March 3, 2026 Published online: April 16, 2026 Processing time: 77 Days and 13.7 Hours
Abstract
BACKGROUND
Primary adrenal insufficiency [Addison’s disease (AD)] is a rare but potentially life-threatening endocrine disorder caused by impaired cortisol and aldosterone production. While autoimmune adrenalitis is the most common etiology in adults, genetic causes account for a substantial proportion of childhood-onset cases and should be actively investigated. Among inherited etiologies, X-linked adrenoleukodystrophy (X-ALD) is one of the most important genetic causes of primary adrenal insufficiency in males. X-ALD is a peroxisomal disorder caused by pathogenic variants in the ABCD1 gene, leading to impaired degradation of very long-chain fatty acids. Its clinical spectrum ranges from isolated adrenal insufficiency to progressive cerebral demyelination or adrenomyeloneuropathy.
CASE SUMMARY
We report a 27-year-old male diagnosed with AD in early childhood who remained neurologically asymptomatic for more than two decades, consistent with the so-called “Addison-only” phenotype. In adulthood, he developed progressive psychiatric and neurological manifestations, including behavioral changes and motor symptoms, prompting further evaluation.
CONCLUSION
This case illustrates that childhood-onset AD in males may represent the earliest manifestation of X-ALD and that the “Addison-only” phenotype does not confer long-term neurological protection. The late emergence of psychiatric and neurological symptoms underscores the need for systematic screening for X-ALD in males with idiopathic early-onset adrenal insufficiency and highlights the importance of lifelong neurological surveillance to avoid delayed diagnosis.
Core Tip: Adrenoleukodystrophies are a heterogeneous neurological occurrence and sometimes their differential diagnosis might be difficult. Addison disease among other background conditions might be related to such a progressive disorder that could lead to severe neurological injury. We present a case where the nervous symptomatology was delayed vis-à-vis the initial and main disease, and whose psychiatric signs preceded gait instability, impaired balance, and dysarthria. Imaging and genetic studies are of particular diagnostic importance in this setting.
