ArticleCureus2025
Clinical Variation and Neuroimaging Patterns in Monozygotic Twins With Arrested X-Linked Adrenoleukodystrophy: A Case Report.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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5 authors.
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Abstract
X-linked adrenoleukodystrophy (ALD) is a peroxisomal disorder leading to neural and adrenal tissue deposition of very long-chain fatty acids. We report 23-year-old monozygotic twins who presented with neuropsychiatric concerns, fatigue, gait difficulty, lower extremity muscle stiffness, and urinary and bowel incontinence. One twin reported difficulty with concentration and mood and had more advanced difficulty with gait and incontinence as compared to his brother. Neurological examination identified weakness in proximal lower extremity muscles, hyperactive deep tendon reflexes in all extremities, positive Babinski sign, and spastic gait of differing severity between the patients. Magnetic resonance imaging (MRI) of the brain revealed T2 hyperintensity in the splenium of the corpus callosum in each subject. MRI of the spine revealed a normal signal in the cord; however, the thoracic segment was asymmetrically atrophied. No pathological enhancement was appreciated. Further testing revealed primary adrenal insufficiency and elevated hexacosanoic acid. Genetic testing confirmed a pathogenic variant in the
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