Adrenoleukodystrophy

Alternative names:

melanodermic leukodystrophy; X-linked adrenoleukodystrophy

Definition:

An inheritable disorder of fatty acid metabolism that affects the adrenal glands, nervous system, and testes.

Causes, incidence, and risk factors:

Adrenoleukodystrophy is transmitted as an X-linked trait. Its incidence is thought to be slightly greater than 1 out of 100,000 people. The metabolic defect is the accumulation of long chain fatty acids in the nervous system, adrenal gland, and testes, where the accumulated material disrupts normal activity. There are several different forms of the disease. The most severe, the childhood cerebral form, appears in mid-childhood, and the other forms appear during adolescence. About one-third of affected people develop neurological symptoms while all develop abnormal adrenal function.

In the childhood form, early symptoms include hyperactivity, difficulty at school, difficulty understanding spoken material, deterioration of handwriting, crossed eyes (strabismus), and possibly seizures. As the disease progresses, further signs of damage to the white matter of the brain appear and include changes in muscle tone, stiffness and contracture deformities, swallowing difficulties and coma.

The other major component of the childhood form and all other forms of adrenoleukodystrophy is the development of impaired adrenal function (similar to Addison disease). This is a very significant development and one that can be adequately treated with corticosteroids.