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Differentiating Incidental From Pathologic Brain MRI Findings in Asymptomatic Boys With X-Linked
Isha N Srivastava1, Danielle H J Kim1, Jeilo Gauna1
1Department of Neurology and Neurological Sciences, Stanford University School of Medicine, CA.
Neurology
|October 29, 2025
Summary
Incidental MRI findings are common in X-linked adrenoleukodystrophy (ALD) surveillance. These findings are distinguishable from cerebral ALD (cALD) lesions by location, stability, and lack of contrast enhancement.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- X-linked adrenoleukodystrophy (ALD) is a common leukodystrophy.
- Newborn screening enables early detection of cerebral ALD (cALD) via serial MRI.
- Distinguishing early cALD lesions from incidental findings is challenging.
Purpose of the Study:
- To characterize incidental MRI findings in boys with ALD undergoing cALD surveillance.
- To identify features that differentiate incidental findings from early cALD lesions.
Main Methods:
- Retrospective review of MRI reports from boys with ALD (2012-2023).
- Inclusion criteria: presymptomatic boys with ALD, age <12, no neurologic symptoms.
- Analysis of MRI reports to classify findings as cALD lesions or incidental.
Main Results:
- 69 boys with ALD and 390 MRI reports were analyzed.
- 11% developed cALD lesions; 74% had common incidental findings (e.g., punctate hyperintensities, prominent perivascular spaces).
- Incidental findings were not associated with genotype or predictive of cALD development.
Conclusions:
- Incidental findings are frequently reported during cALD surveillance.
- Incidental findings differ from cALD lesions by location, stability, and lack of contrast enhancement.
- Provides a framework for differentiating incidental findings from cALD lesions in surveillance settings.
