X-linked adrenoleukodystrophy is a neurological disorder characterized by MRI findings in the white matter and adrenal cortex and abnormal plasma concentrations of very long chain fatty acids. The condition can present in three different phenotypes, childhood cerebral form, adrenomyeloneuropathy, and Addison disease only.
The childhood cerebral form has an onset of symptoms between ages 4-8 beginning with ADHD like symptoms with progressive cognitive, behavior, vision, hearing, and motor deterioration. Adrenomyeloneuropathy will usually present in males in their late twenties as sexual dysfunction, progressive paraparesis, sphincter disturbances and abnormalities in adrenocortical function. The mildest presentation is primary adrenocortical insufficiency without significant neurological involvement with onset ranging from two years to adulthood. Some carrier females may experience mild adrenomyeloneuropathy symptoms with a later age of onset.