ZELLWEGERS SYNDROME, NEONATAL ADRENOLEUKODYSTROPHY OR INFANTILE REFSUMS DISEASE IN A CASE OF PEROXISOMAL DEFICIENCY DISORDER

An eleven month-old boy presented clinically with craniofacial dysmorp hia, severe psychomotor retardation, neurological deterioration, no re sponse to visual and acoustic stimuli, failure to thrive, hepatomegaly and adrenal insufficiency. Specific biochemical markers for a peroxis omal deficiency disorder (Zellweger's syndrome, neonatal adrenoleukody strophy, infantile Refsum's disease) revealed pathological results for very long chain fatty acids, phytanic acid, pristanic acid, plasmalog en biosynthesis and catalase, thus confirming the clinical diagnosis. Comparison of clinical and biochemical findings in the patient with th e characteristics of the three peroxisomal deficiency disorders showed overlapping with each of these disorders, which corresponds to the cu rrent view that these three peroxisomal disorders differ only with res pect to onset and severity of the clinical manifestations, but not wit h regard to the biochemical defects.