[Zellweger syndrome, neonatal adrenoleukodystrophy or infantile Refsum's disease in a case with generalized peroxisome defect?].
An eleven month-old boy presented clinically with craniofacial dysmorphia, severe psychomotor retardation, neurological deterioration, no response to visual and acoustic stimuli, failure to thrive, hepatomegaly and adrenal insufficiency. Specific biochemical markers for a peroxisomal deficiency disorder (Zellweger's syndrome, neonatal adrenoleukodystrophy, infantile Refsum's disease) revealed pathological results for very long chain fatty acids, phytanic acid, pristanic acid, plasmalogen biosynthesis and catalase, thus confirming the clinical diagnosis. Comparison of clinical and biochemical findings in the patient with the characteristics of the three peroxisomal deficiency disorders showed overlapping with each of these disorders, which corresponds to the current view that these three peroxisomal disorders differ only with respect to onset and severity of the clinical manifestations, but not with regard to the biochemical defects.
Schmitt
K
K
Landes-Kinderklinik, Linz.
Molzer
B
B
Stöckler
S
S
Tulzer
G
G
Tulzer
W
W
D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000201:enzymology; D002374:Catalase / Q000097:blood; D005227:Fatty Acids / Q000097:blood; D006801:Humans; D007223:Infant; D008297:Male; D008830:Microbodies / Q000502:physiology*; D010831:Phytanic Acid / Q000097:blood; D010955:Plasmalogens / Q000096:biosynthesis; D012035:Refsum Disease / Q000175:diagnosis* / Q000201:enzymology; D015211:Zellweger Syndrome / Q000175:diagnosis* / Q000201:enzymology
D005227:Fatty Acids; D010955:Plasmalogens; D010831:Phytanic Acid; C002844:pristanic acid; D002374:Catalase