ArticleNeurology2025
Differentiating Incidental From Pathologic Brain MRI Findings in Asymptomatic Boys With X-Linked Adrenoleukodystrophy: A Multicenter Study.
Article in Neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
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11 authors.
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Abstract
BACKGROUND AND
objectivesX-linked adrenoleukodystrophy (ALD) is the most common leukodystrophy with an incidence of 1:15,000 births. Newborn screening has enabled widespread use of serial brain MRI scans for early detection and treatment of cerebral ALD (cALD). Differentiating early cALD lesions from incidental findings remains challenging. We sought to characterize incidental MRI findings during cALD surveillance and describe features that may help distinguish them from early cALD lesions.
methodsMRI reports from boys with ALD followed at the Lucile Packard Children's Hospital and Weill Cornell Medicine from 2012 to 2023 were reviewed. Inclusion criteria were boys with ALD who had at least 1 presymptomatic MRI before the age of 12 and no neurologic symptoms. We analyzed narrative content of available MRI reports, manually verified definite cALD lesions, and classified all other findings as incidental.
resultsOur study included 69 boys with ALD (median age of 6.9 years, interquartile range 4.0-9.5),, with a total of 390 MRI reports reviewed. Participants had either pathogenic DISCUSSION: Incidental findings were commonly reported during cALD surveillance, possibly reflecting radiologists' intent to differentiate them from cALD. Incidental findings were distinguishable from true cALD lesions based on anatomic location, stability over time, and persistent absence of contrast enhancement. Our findings provide a practical framework for differentiating incidental findings from cALD lesions during surveillance.
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