A description of early lesion development in asymptomatic boys with childhood cerebral adrenoleukodystrophy was published in Neurology.

Researchers retrospectively analyzed brain magnetic resonance imaging (MRI) scans for brain lesion volume, Loes score, and growth over time in a cohort of boys biochemically or genetically diagnosed with adrenoleukodystrophy. Demographic data, genotype information, biochemical data, follow-up intervals, and brain lesion characteristics were recorded in all MRI scans. White matter changes were scored using the Loes MRI severity scoring system, and lesions were subdivided into 5 patterns based on primary anatomic distribution.

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Of the 47 boys and 219 MRI scans included in the study, median age for the first scan was 6 years old, and 57% had adrenoleukodystrophy genetic testing. Initially or during the course of the study, 28 patients manifested childhood cerebral adrenoleukodystrophy, and 19 remained without indication of cerebral disease. The median Loes score was 3.0 for patients with childhood cerebral adrenoleukodystrophy. The most frequent pattern was in the splenium (60%), followed by genu of the corpus callosum (17%) and the corticospinal or frontopontine tracts (17%). Lesion contrast enhancement occurred in 79% of patients, and the most frequent pattern of enhancement was peripheral, followed by patchy and solid patterns. Lesion progression occurred in 50% of patients, and 21% of patients with childhood cerebral adrenoleukodystrophy experienced self-halted brain lesions over the course of 17.7 months. Volumetric analyses were possible on 86 MRI scans from 26 patients and indicated a median lesion growth rate of 0.19 mL/mo. Patient age at the first abnormal scan was inversely correlated with lesion growth rate (r=-0.745; P <.0001), and patients with a Loes score ≤1 experienced a lesion growth rate 46 times faster than patients with a Loes score >1 (P =.001).

Limitations of this study include a potential sample bias, possible errors in the evaluation of brain lesions, and not including neuropsychological testing, which could lead to overestimates of asymptotic patients.

The researchers concluded that “familiarity with the evolution of early cerebral lesions on MRI is paramount to improve diagnosis and follow-up surveillance, and to help optimize the selection of patients for rescue therapies.”

Reference

Liberato AP, Mallack EJ, Aziz-Bose R, et al. MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy [published online March 22, 2019]. Neurology. doi: 10.1212/WNL.0000000000007294