The cerebro-hepato-renal (Zellweger) syndrome: lamellar lipid profiles in adrenocortical, hepatic mesenchymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in the plasma.
Clinical, radiological, histological and biochemical aspects of two cases of cerebro-hepato-renal syndrome (CHRS) are reported. CT scan disclosed a demyelinating process and gyral abnormalities reflecting the observed neuropathological findings. Trilamellar and lamellar inclusions were found in brain astrocytes, hepatic mesenchymal and adrenal cells. The morphologic features of these inclusions are similar to those observed in childhood adrenoleukodystrophy, neonatal adrenoleukodystrophy and infantile Refsum's disease. In the two CHRS patients, increased plasma levels of very long chain fatty acids (C26:1, C26:0) and phytanic acid were in the same range as those observed in seven other instances of neonatal adrenoleukodystrophy. The presence of increased plasma levels of phytanic acid in these disorders suggests that phytanate oxidase activity is, at least, partially located in peroxisomes.
D000302:Adrenal Cortex / Q000473:pathology; D001253:Astrocytes / Q000648:ultrastructure; D001647:Bile Acids and Salts / Q000097:blood; D001921:Brain / Q000473:pathology*; D002525:Cerebellar Cortex / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D004537:Eicosanoic Acids / Q000097:blood*; D005227:Fatty Acids / Q000097:blood*; D005260:Female; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood / Q000473:pathology*; D008099:Liver / Q000648:ultrastructure; D008297:Male; D010831:Phytanic Acid / Q000097:blood*; D013577:Syndrome
D001647:Bile Acids and Salts; D004537:Eicosanoic Acids; D005227:Fatty Acids; D010831:Phytanic Acid