Unusual orthochromatic leukodystrophy with epitheloid cells (Norman-Gullotta): increase of very long chain fatty acids in brain discloses a peroxisomal disorder.
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.
Molzer
B
B
Neurological Institute, University of Vienna, Austria.
Gullotta
F
F
Harzer
K
K
Poulos
A
A
Bernheimer
H
H
D000326:Adrenoleukodystrophy / Q000235:genetics / Q000473:pathology*; D000368:Aged; D000369:Aged, 80 and over; D001921:Brain / Q000473:pathology*; D001923:Brain Chemistry / Q000502:physiology; D002788:Cholesterol Esters / Q000378:metabolism; D005227:Fatty Acids / Q000032:analysis / Q000378:metabolism*; D006801:Humans; D008830:Microbodies / Q000648:ultrastructure*; D010831:Phytanic Acid / Q000378:metabolism
D002788:Cholesterol Esters; D005227:Fatty Acids; D010831:Phytanic Acid