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Tunisie Medicale [La]. 2011; 89 (3): 282-284
em Francês | IMEMR | ID: emr-109390

RESUMO

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


Assuntos
Humanos , Feminino , Doenças Neurodegenerativas , Transtornos dos Movimentos , Disartria , Coreia , Creatina Quinase
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