Adrenoleukodystrophy

• Alternative Names

  Adrenoleukodystrophy; Adrenomyeloneuropathy; Childhood cerebral adrenoleukodystrophy; ALD; Schilder-Addison Complex

• Causes, incidence, and risk factors

  Adrenoleukodystrophy is passed down from parents to their children as an X-linked genetic trait. It therefore affects mostly males, although some women who are carriers can have milder forms of the disease. It affects approximately 1 in 20,000 people from all races.

  The condition results in the buildup of very-long-chain fatty acids in the nervous system, adrenal gland, and testes, which disrupts normal activity. There are three major categories of disease:

  • Childhood cerebral form -- appears in mid-childhood (at ages 4 - 8)
  • Adrenomyelopathy -- occurs in men in their 20s or later in life
  • Impaired adrenal gland function (called Addison disease or Addison-like phenotype) -- adrenal gland does not produce enough steroid hormones
• Symptoms

  Childhood cerebral type:

  • Changes in muscle tone, especially muscle spasms and spasticity
  • Crossed eyes (strabismus)
  • Decreased understanding of verbal communication (aphasia)
  • Deterioration of handwriting
  • Difficulty at school
  • Difficulty understanding spoken material
  • Hearing loss
  • Hyperactivity
  • Worsening nervous system deterioration
    • Coma
    • Decreased fine motor control
    • Paralysis
  • Seizures
  • Swallowing difficulties
  • Visual impairment or blindness

  Adrenomyelopathy:

  • Difficulty controlling urination
  • Possible worsening muscle weakness or leg stiffness
  • Problems with thinking speed and visual memory

  Adrenal gland failure (Addison type):

  • Coma
  • Decreased appetite
  • Increased skin color (pigmentation)
  • Loss of weight, muscle mass (wasting)
  • Muscle weakness
  • Vomiting
• Signs and tests
  • Blood levels
  • Chromosome study to look for changes (mutations) in the ABCD1 gene
  • MRI of the head
• Treatment

  Adrenal dysfunction is treated with steroids (such as cortisol).

  A specific treatment for X-linked adrenoleukodystrophy is not available, but eating a diet low in very-long-chain fatty acids and taking special oils can lower the blood levels of very-long-chain fatty acids.

  These oils are called Lorenzo's oil, after the son of the family who discovered the treatment. This treatment is being tested for X-linked adrenoleukodystrophy, but it does not cure the disease and may not help all patients.

  Bone marrow transplant is also being tested as an experimental treatment.

• Expectations (prognosis)

  The childhood form of X-linked adrenoleukodystrophy is a progressive disease that leads to a long-term coma (vegetative state) about 2 years after neurological symptoms develop. The child can live in this condition for as long as 10 years until death occurs.

  The other forms of this disease are milder.

• Complications
  • Adrenal crisis
  • Vegetative state (long-term coma)
• Calling your health care provider

  Call your health care provider if:

  • Your child develops symptoms of X-linked adrenoleukodystrophy
  • Your child has X-linked adrenoleukodystrophy and is getting worse
• Prevention

  Genetic counseling is recommended for prospective parents with a family history of X-linked adrenoleukodystrophy. Female carriers can be diagnosed 85% of the time using a very-long-chain fatty acid test and a DNA probe study done by specialized laboratories.

  Prenatal diagnosis of X-linked adrenoleukodystrophy is also available. It is done by evaluating cells from chorionic villus sampling or amniocentesis.

• References

  Johnston MV. Neurodegenerative disorders of childhood. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 599.

Review Date: 11/2/2009

Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.