A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor.
Tremor Other Hyperkinet Mov (N Y)
; 8: 538, 2018.
Article
en En
| MEDLINE
| ID: mdl-29971195
ABSTRACT
Background:
Cerebrotendinous xanthomatosis is a rare autosomal recessive neurometabolic disorder characterized by chronic diarrhea, tendon xanthomas, juvenile cataracts, and neurological symptoms. Case Report An adult patient with cerebrotendinous xanthomatosis exhibited ataxia and palatal tremor in the absence of tendon xanthomas and cataracts.Discussion:
The importance of this case resides on the fact that cerebrotendinous xanthomatosis should be considered as a possible etiology of the syndrome of progressive ataxia with palatal tremor, even in the absence of tendon xanthomas and cataracts. Early diagnosis is critical to the institution of specific treatment with chenodeoxycholic acid.Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Ataxia
/
Temblor
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Xantomatosis Cerebrotendinosa
Tipo de estudio:
Diagnostic_studies
/
Screening_studies
Límite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Tremor Other Hyperkinet Mov (N Y)
Año:
2018
Tipo del documento:
Article
País de afiliación:
Argentina