[Adrenoleukodystrophy (author's transl)].
A report on clinical course and morphological findings of a case of adrenoleukodystrophy in a 10-years-old boy is given. The brain showed the typical changes of a sudanophilic, inflammatory leukodystrophy in all lobes. Pathognomic intracytoplasmatic inclusions in the perivascular macrophages were found by electron microscopic examination. The adrenal glands showed a severe atrophy, but it was impossible to detect typical cytolpasmatic inclusions within the adrenocortical cells. By thin-layer chromatography an accumulation of cholesterol esters with very long chain fatty acids was found in the demyelinated areas. Findings diagnostic facilities and theories of pathogenesis are discussed.
D000224:Addison Disease / Q000150:complications* / Q000473:pathology; D001344:Autopsy; D002648:Child; D002784:Cholesterol / Q000032:analysis; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000150:complications* / Q000473:pathology; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008264:Macrophages / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron
D002784:Cholesterol
Adrenoleukodystrophie.