ISSN:
1432-1076
Keywords:
Infantile Refsum disease
;
Zellweger syndrome
;
Neonatal adrenoleukodystrophy
;
Peroxisomal disease
;
Mental retardation
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract 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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00441598
