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Adrenoleukodystrophy - Symptom

Alternative Names

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

Symptoms:

Childhood cerebral type:

  • Adrenal problems
  • 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
  • Progressive nervous system deterioration
    • Coma
    • Decreased fine motor control
    • Paralysis
  • Seizures
  • Swallowing difficulties
  • Visual impairment or blindness

Adrenomyelopathy:

  • Adrenal problems
  • 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 pigmentation
  • Loss of weight, muscle mass (wasting)
  • Muscle weakness
  • Vomiting

Signs and tests:

  • Blood levels show elevated very-long-chain fatty acids
  • Chromosome study shows ABCD1 gene mutations
  • MRI of the head shows damage to the white matter of the brain (white matter is a type of brain tissue)
  • Reviewed last on: 11/12/2007
  • Rachel A. Lewis, M.D., F.A.A.P., Columbia University Pediatric Faculty Practice, New York, NY. Review provided by VeriMed Healthcare Network.