UNUSUAL ORTHOCHROMATIC LEUKODYSTROPHY WITH EPITHELIOID CELLS (NORMAN-GULLOTTA) - INCREASE OF VERY LONG-CHAIN FATTY-ACIDS IN BRAIN DISCLOSESA PEROXISOMAL DISORDER

Very long chain fatty acids (VLCFA) were found to be markedly increase d and phytanic acid was borderline above normal in formalin-fixed brai n white matter of case with an unusual type of familial leukodystrophy with epitheloid cells as described previously by Gullotta et al. Neu ropadiatrie (1970) 2: 173-186!. Increased VLCFA in brain clearly demon strate 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 disor der present in case (heterozygote of X-linked adrenoleukodystrophy?) r emains speculative.