Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy

Eur J Pediatr. 1987 Sep;146(5):477-83. doi: 10.1007/BF00441598.


Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly, failure to thrive and hypocholesterolaemia. Initially, only an accumulation of phytanic acid was thought to be present. More recent findings showed a biochemical profile very similar to that found in classical Zellweger syndrome or neonatal adrenoleukodystrophy. Morphologically typical peroxisomes were absent in the liver. All three disorders are associated with multiple peroxisomal dysfunction. Because of these similarities pertinent clinical data of our three patients are compared with those of reported patients diagnosed as having infantile Refsum disease, neonatal adrenoleukodystrophy or Zellweger syndrome who survived for several years. Attention is drawn to the difference in severity of clinical features, ranging from infantile Refsum's disease to neonatal adrenoleukodystrophy and, finally, to Zellweger syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenoleukodystrophy / diagnosis
  • Adrenoleukodystrophy / genetics*
  • Biopsy
  • Child
  • Diagnosis, Differential
  • Diffuse Cerebral Sclerosis of Schilder / genetics*
  • Electroencephalography
  • Enzymes / metabolism
  • Hepatorenal Syndrome / diagnosis
  • Hepatorenal Syndrome / genetics*
  • Humans
  • Kidney Diseases / genetics*
  • Liver / pathology
  • Male
  • Microbodies / enzymology*
  • Microscopy, Electron
  • Refsum Disease / diagnosis
  • Refsum Disease / genetics*
  • Tomography, X-Ray Computed


  • Enzymes