Linked Life Data

6410671

Source:http://linkedlifedata.com/resource/pubmed/id/6410671

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1983-9-20
pubmed:abstractText
Cerebrotendinous xanthomatosis is an unusual disease, clinically characterized by dementia, cataracts, progressive cerebellar ataxia, pyramidal signs, and multiple xanthomas of tendons and other tissues. It was first described in 1937, and in 1968 the storage of cholesterol and cholestanol in the tissues was demonstrated. About 30 cases have been reported. The authors of the present communication report 2 cases in siblings with parental consanguinity. They showed mental impairment and cataract, and multiple xanthomas; in 1 case, pyramidal signs were detected in the 4 limbs associated with a rise of the vibration sense thresholds in the feet. The diagnosis was confirmed in both cases by greatly increased cholestanol levels in the blood serum, bile and in a tendon xanthoma. Cholesterol concentrations in the blood serum and bile were normal although increased in the xanthoma. One case had a gallstone. Computerized tomography showed hyperdense nodules in the cerebellar hemispheres of one patient, and a calcified parietal nodule in his sister. The etiopathogenesis of the disease is discussed. Treatment with ursodeoxycholic acid is in course in both patients.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0001-6314
pubmed:author
pubmed:issnType
Print
pubmed:volume
67
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
305-11
pubmed:dateRevised
2006-8-16
pubmed:meshHeading
pubmed:year
1983
pubmed:articleTitle
Cerebrotendinous xanthomatosis: clinical and laboratory study of 2 cases.
pubmed:publicationType
Journal Article, Case Reports