Adrenoleukodystrophy

Alternative names:

melanodermic leukodystrophy; X-linked adrenoleukodystrophy

Symptoms:

• hyperactivity
• decreasing school performance
• decreased understanding of verbal communication (aphasia)
• crossed eyes
• swallowing difficulties
• changes in muscle tone, especially muscle spasms and spasticity

Progressive nervous system deterioration

• paralysis
• hearing loss
• visual impairment or blindness
• vegetative state

Other occasional symptoms

• seizures

Symptoms of adrenal failure
+ General

• muscular weaknes
• wasting (loss of weight, muscle mass)
• decreased appetite
• increased skin pigmentation

+ Crisis

• shock
• cyanosis
• rapid thready pulse (tachycardia)
• skin cold
• rapid respirations (tachyipnea)

Signs and tests:

There may be signs of impaired adrenal function (adrenal insufficiency).

Tests:

• serum chemistry showing elevated long chain fatty acids
• skin biopsy and fibroblast culture showing elevated levels of long chain fatty acids
• MRI of the head showing damage to the white matter of the brain (white matter is a specific type of brain tissue)
• head CT shows damage to the white matter of the brain