title: Inherited cholesterol lipidosis: cerebrotendinous xanthomatosis (van Bogaert Scherer Epstein disease). A clinicopathological study.
abstract: Cerebrotendinous xanthomathosis (CTX) is a rare autosomal-recessively transmitted disease of the lipid storage system with an array of general and neurological symptoms, based on the pathological storage of cholestanol and cholesterol. The histologic manifestations are foamy cell granulomata and cholesterol crystals within various tissues, associated with a loss of both nerve cells and demyelination inside the CNS. We present a case of CTX with clinical progression as well as the pathomorphologic autopsy findings. The CNS affection in our case will be demonstrated and the pathogenesis be discussed. Medical treatment of CTX is possible but with variable success. In the case shown, the patient profited only marginally from a long-term application of chenodeoxycholic acid.
authors.affiliation: Department of Neurology, Klinikum Aschaffenburg, University of Würzburg, Germany. Klaus.Isenhardt@klinikum-aschaffenburg.de
authors.forename: K
authors.initials: K
authors.lastname: Isenhardt
authors.forename: R
authors.initials: R
authors.lastname: Schmitt
authors.forename: A
authors.initials: A
authors.lastname: Nagel
authors.forename: L
authors.initials: L
authors.lastname: Drach
authors.forename: W
authors.initials: W
authors.lastname: Schlote
mesh_terms: D000328:Adult; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use; D005765:Gastrointestinal Agents / Q000627:therapeutic use; D006801:Humans; D008297:Male; D019294:Xanthomatosis, Cerebrotendinous / Q000150:complications / Q000188:drug therapy / Q000473:pathology*
chemical_list: D005765:Gastrointestinal Agents; D002635:Chenodeoxycholic Acid