Adrenoleukodystrophy

Also known as: Adrenoleukodystrophy, Adrenomyeloneuropathy, Childhood cerebral adrenoleukodystrophy, ALD or Schilder-Addison Complex

Definition

Adrenoleukodystrophy describes several closely related inherited disorders that disrupt the breakdown (metabolism) of certain fats (very-long-chain fatty acids).

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.

See also:

• Special Topic

  White matter of the brain

  

• Special Topic

  Adrenal glands

  

  Adrenal glands are triangle-shaped glands located on top of the kidneys. The outer part of the adrenal gland is called the cortex and produces steroid hormones such as , , and . The inner part of the adrenal gland is called the medulla and produces and , which are commonly called adrenaline and ...

• Disease

  Acute adrenal crisis

  

  Acute adrenal crisis is a life-threatening condition that occurs when there is not enough cortisol, a hormone produced by the .

• Disease

  Strabismus

  

  Strabismus is a disorder in which the two eyes do not line up in the same direction, and therefore do not look at the same object at the same time. The condition is more commonly known as “crossed eyes.”

• Special Topic

  Metabolism

  

  Metabolism refers to all the physical and chemical processes in the body that convert or use energy, such as: Breathing Circulating blood Controlling body temperature Contracting muscles Digesting food and nutrients Eliminating waste through urine and feces Functioning of the brain and nerves

• Symptoms

  Contracture deformity

  

  A contracture is a tightening of muscle, tendons, ligaments, or skin that prevents normal movement. See also:

• Symptoms

  Seizures

  A seizure is the physical findings or changes in behavior that occur after an episode of abnormal electrical activity in the brain. See also: (seizures in children with high fever)

• Symptoms

  Hyperactivity

  

  Hyperactivity is a state of too much muscle activity. This term is also used to describe a situation when a particular portion of the body is too active, such as when a gland produces too much of its particular hormone. See also:

• Special Topic

  Genetics

  

  Genetics is the study of heredity, the process in which a parent passes certain onto their children. A person’s appearance — height, hair color, skin color, and eye color — are determined by genes. Other characteristics affected by heredity: Likelihood of getting certain ...

• Symptoms

  Swallowing difficulty

  

  Difficulty with swallowing is the sensation that food is stuck in the throat, or from the neck down to just above the abdomen behind the breastbone (sternum).

• Special Topic

  Testes

  

  The testes are two egg-shaped male reproductive organs located in the . They produce sperm and the male hormone, . Related topics:

• Symptoms

  Consciousness - decreased

  Decreased consciousness is reduced alertness or awareness.

Review date:

November 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.

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