CLINICAL APPROACH TO INHERITED PEROXISOMAL DISORDERS - A SERIES OF 27PATIENTS

To illustrate the clinical and biochemical heterogeneity of peroxisoma l disorders, we report our experience with 27 patients seen personally between 1982 and 1997. Twenty patients presented with a phenotype cor responding either to Zellweger syndrome, neonatal adrenoleukodystrophy , or infantile Refsum disease, 3 of whom had a peroxisomal disorder du e to a single enzyme defect One patient had a mild form of rhizomelic chondrodysplasia punctata, 1 had classic Refsum disease. Finally, 5 pa tients presented with clinical manifestations that were either unusual ly mild or completely atypical, and initially did not arouse suspicion of a peroxisomal disorder. They showed multiple defects of peroxisoma l functions with one or several functions remaining intact, suggesting a peroxisome biogenesis disorder. The defect in peroxisome biogenesis was further characterized by variable expression in different tissues and/or individual cells in 5 patients. Studies restricted to fibrobla sts failed to identify abnormalities in this group. We demonstrate tha t clinical manifestations of peroxisomal disorders may be very mild or completely atypical, and therefore, peroxisomal disorders should be c onsidered in a variety of clinical settings. Furthermore, we suggest p erforming extensive peroxisomal investigations in every patient suspec ted of suffering from a peroxisomal disorder, even when the clinical p resentation is typical.