Linked Life Data

15608974

Source:http://linkedlifedata.com/resource/pubmed/id/15608974

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2004-12-20
pubmed:abstractText
Cerebrotendinous xanthomatosis is a treatable rare autossomal recessive disease characterized by lipid storage secondary to a sterol 27-hydroxylase deficiency in the formation of cholic and chenodeoxycholic acids. We describe two Brazilian brothers with cognitive impairement and chronic diarrhea. One of them also presents bilateral cataracts. Neurological findings were progressive walking deficit, limb ataxia and pyramidal signs. Both patients had bilateral Achilles tendon xanthomata. Magnetic resonance image showed signal alterations in cerebellar hemispheres. We describe these cases with molecular genetic analysis confirming diagnosis and comparing with previous literature. The CYP27A1 gene study showed a C1187T mutation on exon 6.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0004-282X
pubmed:author
pubmed:issnType
Print
pubmed:volume
62
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1085-9
pubmed:dateRevised
2009-11-11
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Cerebrotendinous xanthomatosis: report of two Brazilian brothers.
pubmed:affiliation
Serviço de Neurologia, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brazil.
pubmed:publicationType
Journal Article, Case Reports