In patients with childhood cerebral adrenoleukodystrophy (pwCCALD), the most frequent lesion pattern observed on MRI was parieto-occipital lobe white matter or splenium of the corpus callosum.
The strongest predictors for rapid lesion growth were young age at first presentation of abnormal MRI and small initial lesion size.
Why this matters
35% of boys with X-linked adrenoleukodystrophy develop CCALD, which is characterized by myelin destruction, microglial apoptosis, and blood-brain barrier (BBB) disruption; after an asymptomatic period, patients experience continuous neurologic decline and death within 2–3 years.
Currently available cellular therapies work best when initiated before symptoms arise; brain lesions are present before the onset of symptoms, and this report describes brain lesions characteristic of asymptomatic pwCCALD.