ISSN:
1432-0533
Keywords:
Leukodystrophy
;
Very long chain fatty acids
;
Phytanic acid
;
Peroxisomal disease
;
Adrenoleukodystrophy
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary Very long chain fatty acids (VLCFA) were found to be markedly increased and phytanic acid was borderline above normal in formalin-fixed brain white matter of case with an unusual type of familial leukodystrophy with epitheloid cells as described previously by Gullotta et al. [Neuropädiatrie (1970) 2: 173–186]. Increased VLCFA in brain clearly demonstrate that the patient had suffered from a peroxisomal disease. This diagnosis is corroborated by ultrastructural findings in brain showing typical lamellar inclusions. The particular type of peroxisomal disorder present in case (heterozygote of X-linked adrenoleukodystrophy?) remains speculative.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00334888
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