Adrenoleukodystrophy

drthind_adrenoleukodystrophy

DEFINITION
Adrenoleukodystrophy describes several closely related inherited disorders that disrupt the breakdown (metabolism) of certain fats.

Causes of Adrenoleukodystrophy

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

Adrenoleukodystrophy sign and 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
o Coma
o Decreased fine motor control
o 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

Investigations of Adrenoleukodystrophy

• Blood levels
• Chromosome study to look for changes (mutations) in the ABCD1 gene
• MRI of the head

Treatment of Adrenoleukodystrophy

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.

Complication of Adrenoleukodystrophy

• Adrenal crisis
• Vegetative state (long-term coma)

Prognosis of Adrenoleukodystrophy

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

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