MRI features in presymptomatic patients with X-linked adrenoleukodystrophy

Takeaway

  • 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.