Peroxisomal disorders

• Most common: adrenoleukodystrophy
  • peroxisomal enzyme deficiency causes buildup of long chain fatty acids
  • X-linked, severe neonatal form is autosomal recessive (die before age 4)
  • features
    • adrenocortical insufficiency (Addison's disease): may present years before neuro sx
    • CNS demyelination, neurodegeneration
  • No treatment... just a diet low in long chain fatty acids
• Zellweger (aka cerebrohepatorenal syndrome)
  • is the most common peroxisomal disorder to manifest itself in early infancy
  • the most severe type of peroxisomal disorder. This disorder is apparent at birth and results in death within the first year of life.
  • Features
    • typical craniofacial dysmorphism (ie, high forehead, large anterior fontanelle, hypoplastic supraorbital ridges, epicanthal folds, and deformed ear lobes)
    • profound neurological abnormalities (show severe psychomotor retardation, profound hypotonia, neonatal seizures, glaucoma, retinal degeneration, impaired hearing; Brain anomalies include cortical dysplasia and neuronal heterotopia; regressive changes may be seen. Dysmyelination rather than demyelination is observed)
    • Hepatomegaly with impaired function.
    • Calcific stippling of the epiphyses and small renal cysts also are noted.