Adrenoleukodystrophy

T2 weighted axial scan at the level of the caudate heads demonstrates marked loss of posterior white matter, with reduced volume and increased signal intensity. The anterior white matter is spared. Features are consistent with X-linked adrenoleukodystrophy.


X-ALD is an inherited metabolic storage disease whereby a defect in a specific enzyme results in the accumulation of very long-chain fatty acids (VLCFA) in tissues of the body, especially the brain and the adrenal glands. Ultimately the myelin sheath that surrounds the nerves is destroyed causing neurologic problems, and the adrenal gland malfunction causes Addison’s disease.


Symptoms normally start between the ages of 4 and 10 and include loss of previously acquired neurologic abilities, seizures, ataxia, Addison's disease, and degeneration of visual and auditory function.

Although there is no guaranteed method for preventing X-ALD, recommend genetic counseling for prospective parents with a family history of X-ALD. Female carriers can be diagnosed 85% of the time based on blood very long chain fatty acid (VLCFA) levels and genetic testing performed by specialized laboratories.

Prenatal diagnosis of X-ALD is also available. It is done by evaluating cells from chronic villus sampling or amniocentesis