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Adrenoleukodystrophy

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• Symptoms
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Definition:

Adrenoleukodystrophy describes any of several closely related inheritable disorders that involve the breakdown ( metabolism ) of certain fats (long chain fatty acids). These disorders affect the adrenal glands , nervous system, and testes .

Alternative Names:

X-linked adrenoleukodystrophy; Melanodermic leukodystrophy; Neonatal adrenoleukodystrophy; NALD

Causes, incidence, and risk factors:

Adrenoleukodystrophy is transmitted as an X-linked trait (the neonatal form is by autosomal recessive transmission). It affects approximately 1 in 20,000 to 1 in 50,000 individuals from all races.

It results in the accumulation of long chain fatty acids in the nervous system, adrenal gland, and testes, which disrupts normal activity. There are seven recognized forms of the disease.

The neonatal form appears shortly after birth and includes seizures and delayed neurological development, with death occurring in infancy or young childhood. The childhood cerebral form appears in mid-childhood (at 4-8 years), and the other forms appear during adolescence. About one-third of affected people develop neurological symptoms, and about half 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; they include changes in muscle tone, stiffness and contracture deformities , swallowing difficulties , and coma .

The other major component of adrenoleukodystrophy is the development of impaired adrenal gland function (similar to Addison disease ). There is a deficiency of steroid hormones. This is a very significant development but one that can be adequately treated with corticosteroids.

• Review Date: 12/1/2005
• Reviewed By: Daniel Rauch, MD, FAAP, Director, Pediatric Hospitalist Program, Associate Professor of Pediatrics, NYU School of Medicine, New York, NY. Review provided by VeriMed Healthcare Network.

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