Adrenoleukodystrophy

  • Etiology: Peroxisomal disorder with impaired beta oxidation of very long chain fatty acids with accumulation and inflammatory demyelination in white matter and adrenal failure
  • Imaging:
    — 3 zones of myelin loss – necrotic core and enhancing active inflammation and demyelination and advancing demyelination without inflammation
    — Usually symmetrical confluent posterior involvement
    — Frontal pattern rare in less than 10%
    — Posterior to anterior gradient
    — Centrifugal
    — Enhancement
    — Schaumberg zones
  • Imaging MRI: Splenium also involved early on
    — T1WI: Hypointensity in white matter areas particularly parieto-occipital regions
    — T1WI post contrast: Enhancement of leading inflammatory edge of demyelination may correlate with worsening clinical status
    — T2WI: Hyperintensity in white matter areas particularly parieto-occipital regions
  • DDX:
  • Complications:
  • Treatment:
  • Clinical:
    — Classic X-linked adrenoleukodystrophy (X-ALD) – severe and males and usually 5-12 years old
    — Several other variants – adolescent and adult forms as well as adrenomyeloneuropathy

Radiology Cases of Adrenoleukodystrophy