title: Liver in cerebrotendinous xanthomatosis (CTX)--a histochemical and EM study of four cases.
abstract: Cerebrotendinous xanthomatosis (CTX) is a rare inherited lipid storage disease. The primary biochemical defect in CTX is a block in hepatic bile acid synthesis with consequent accumulation of two bile pentols in the liver. Hence specimens of liver from four affecteds were examined by light and electron microscopy. These revealed perisinusoidal fibrosis, bile canalicular alterations and hepatocellular alterations including the appearance of fat droplets, proliferation of the smooth endoplasmic reticulum, accumulation of lipofuscin-like pigment, foci of cytoplasmic degeneration, proliferation of microbodies and prominent mitochondrial changes. In one untreated patient crystalloid cores were noted in the microbodies. These disappeared on therapy.
authors.affiliation: VA Medical Center, East Orange, New Jersey 07019, USA.
authors.forename: D H
authors.initials: DH
authors.lastname: Boehme
authors.forename: H J
authors.initials: HJ
authors.lastname: Sobel
authors.forename: E
authors.initials: E
authors.lastname: Marquet
authors.forename: G
authors.initials: G
authors.lastname: Salen
mesh_terms: D000328:Adult; D001648:Bile Canaliculi / Q000648:ultrastructure; D003593:Cytoplasm / Q000648:ultrastructure; D004721:Endoplasmic Reticulum / Q000648:ultrastructure; D005260:Female; D006801:Humans; D008099:Liver / Q000648:ultrastructure*; D008103:Liver Cirrhosis / Q000209:etiology / Q000473:pathology; D008297:Male; D008830:Microbodies / Q000648:ultrastructure; D008854:Microscopy, Electron; D008875:Middle Aged; D008930:Mitochondria, Liver / Q000648:ultrastructure; D019294:Xanthomatosis, Cerebrotendinous / Q000150:complications / Q000473:pathology*