Adrenoleukodystrophy

Causes and Risks:
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.

Prevention:
Genetic counseling is recommended for prospective parents with a family history of adrenoleukodystrophy. The carrier state in females can be diagnosed most of the time by laboratory studies. Intrauterine diagnosis of adrenoleukodystrophy is available and done by evaluation of cells from chorionic villus sampling or from amniotic cells ( amniocentesis ).

Symptoms:

Progressive nervous system deterioration

  • deteriorating handwriting
  • deteriorating fine motor control

    • Other occasional symptoms

    Symptoms of adrenal failure
    + General

    + Crisis



    Signs and Tests:
    There may be signs of impaired adrenal function ( adrenal insufficiency ).

    Tests:



    Treatment:
    Adrenal dysfunction is treated with supplemental steroids (such as cortisone and cortisol).

    A specific treatment for adrenoleukodystrophy is not available, but a diet low in long chain fatty acids and the administration of special oils has been demonstrated to lower the plasma levels of long chain fatty acids. These oils are referred to as Lorenzo's oil, after the son of the family who discovered the treatment. This regimen is presently under evaluation for the treatment of adrenoleukodystrophy.

    Prognosis:
    The childhood form of adrenoleukodystrophy is a progressive disease that leads to profound disability. The later onset forms are significantly less dangerous.

    Complications:



    Call Your Healthcare Provider:
    Call your health care provider if your child develops symptoms suggestive of adrenoleukodystrophy or if you have a child with adrenoleukodystrophy who is experiencing increased difficulty.