Posterior Disconnection Syndrome in Early-Stage Adult-Onset Cerebral Adrenoleukodystrophy

Adult-onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early-stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher-order visual dysfunction and posterior interhemispheric disconnection signs, including visual-field-dependent reading or naming deficits and dichotic listening abnormalities. Diffusion tensor imaging showed preferential involvement of posterior callosal and visual stream-related white-matter pathways. These findings define a posterior disconnection phenotype of adult-onset cerebral adrenoleukodystrophy and provide a clinically useful framework for early recognition and timely therapeutic consideration of this treatable leukodystrophy.