[Neuroacanthocytosis: a diagnosis that should be considered]
Tunisie Medicale [La]. 2011; 89 (3): 282-284
em Francês
| IMEMR
| ID: emr-109390
ABSTRACT
Neuroacanthocythosis regroup heterogeneous neurodegenerative diseases. These conditions share neurological, hematological and even systemic features. In spite of the genetic progress, their pathogenesis is still unknown. To report a new case of neuroacanthocythosis. A 37-year-old woman was admitted for orofacial choreatic movement disorder. These movements were associated to dysarthria, lip and tongue mutilation, areflexia and raised plasma creatine kinase level. Examination of blood smear reveled 10% of acanthocytosis. Neuro-acanthocytosis diagnosis, precisely chorea-acanthocytosis, was done. Neuro-acanthocytosis should be considered in any movement disorder in order to attempt a genetic counseling
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Coreia
/
Doenças Neurodegenerativas
/
Creatina Quinase
/
Disartria
/
Transtornos dos Movimentos
Tipo de estudo:
Relato de Casos
Limite:
Feminino
/
Humanos
Idioma:
Francês
Revista:
Tunisie Med.
Ano de publicação:
2011
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