Linked Life Data

3066249

Source:http://linkedlifedata.com/resource/pubmed/id/3066249

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1989-3-15
pubmed:abstractText
The authors report three observations of cerebro-tendinous xanthomatosis (CTX). The three patients presented tendinous xanthoma and cataract. The neurologic disorders were different in each case. The first one, a 43 years old woman suffered from dementia, ataxia and pseudobulbar palsy: CT scan showed cerebellar hypodense lesions. After the apparition of bulbar signs ans cachexia she died at 45. The second patient, a 39 years old man had an ataxia and mild psychiatric disorders. He was stabilized with a treatment of chenodesoxycholic acid. The third one, a 49 years old women suffered only from tendinous xanthoma, cataract, and had no neurological disorder. His plasmatic cholestanol level was high. CTX is a recessive deficit of the hepatic 26 hydroxylase with deposits of abnormal metabolites in tendons, crystalline lenses and central nervous system. Reviewing the 44 observations of CTX in the literature, the authors define the genetical, clinical, biochemical and therapeutical aspects of CTX, and underline the necessity of a early diagnosis with cholestanol dosage, before the apparition of neurological disorders and the short terminal phase. CTX is a rare but fortunately treatable neurolipidosis.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0003-410X
pubmed:author
pubmed:issnType
Print
pubmed:volume
139
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
395-402
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1988
pubmed:articleTitle
[Van Bogaert's cerebrotendinous xanthomatosis. A study of 3 cases].
pubmed:affiliation
Centre Hospitalier de Bicêtre, Service de Neurologie, Le Kremlin Bicêtre.
pubmed:publicationType
Journal Article, English Abstract, Review, Case Reports