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[Zellweger syndrome, neonatal adrenoleukodystrophy or infantile Refsum's disease in a case with generalized peroxisome defect?].
- Source :
-
Wiener klinische Wochenschrift [Wien Klin Wochenschr] 1993; Vol. 105 (11), pp. 320-2. - Publication Year :
- 1993
-
Abstract
- 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.
- Subjects :
- Adrenoleukodystrophy enzymology
Catalase blood
Fatty Acids blood
Humans
Infant
Male
Phytanic Acid blood
Plasmalogens biosynthesis
Refsum Disease enzymology
Zellweger Syndrome enzymology
Adrenoleukodystrophy diagnosis
Microbodies physiology
Refsum Disease diagnosis
Zellweger Syndrome diagnosis
Subjects
Details
- Language :
- German
- ISSN :
- 0043-5325
- Volume :
- 105
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- Wiener klinische Wochenschrift
- Publication Type :
- Academic Journal
- Accession number :
- 7687405