Failure of Repeated Cyclophosphamide Pulse Therapy in Childhood Cerebral X-Linked Adrenoleukodystrophy

Childhood cerebral X-linked adrenoleukodystrophy (ALD) remains one of the most devastating neurological diseases of childhood. Cardinal features are inflammatory cerebral demyelination that coincides with an advancing zone of gadolinium enhancement on brain MRI. Therapeutic options, including the role of antiinflammatory therapy, are limited and poorly understood. We report the failure of repeated cyclophosphamide pulse therapy to halt the clinical progression or alter the gadolinium accumulation in two cases of childhood cerebral ALD.