Adult-onset cerebral adrenoleukodystrophy with history of head trauma and neurosyphilis

X-linked adrenoleukodystrophy (X-ALD), an inherited peroxisomal disorder caused by mutations in the ABCD1 gene, has a highly variable clinical presentation. The two major phenotypes are cerebral ALD, marked by childhood onset inflammatory cerebral demyelination that is usually lethal, and adrenomyeloneuropathy (AMN), which typically manifests in adulthood as a non-inflammatory distal axonopathy that progresses to spastic paraplegia.

Despite being a mono genetic condition, no simple genotype-phenotype correlation has been established; this suggests that additional environmental factors may influence the onset and progression of symptoms. Reports have suggested that head trauma may initiate the onset of the rapidly progressive inflammatory demyelination phenotype in previously asymptomatic patients with X-ALD. We report a case of adult-onset cerebral ALD in a patient with a remote history of traumatic brain injury and a recent history of neurosyphilis.