Cerebrotendinous xanthomatosis: report of two Brazilian brothers.
Arq Neuropsiquiatr
; 62(4): 1085-9, 2004 Dec.
Article
em En
| MEDLINE
| ID: mdl-15608974
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Esteroide Hidroxilases
/
Xantomatose Cerebrotendinosa
/
Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Arq Neuropsiquiatr
Ano de publicação:
2004
Tipo de documento:
Article
País de afiliação:
Brasil
País de publicação:
Alemanha