Neuroacanthocytosis: a diagnosis that should be considered.

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Published Mar 4, 2011
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Vol. 89 No. 3 (2011): Issue Mar 2011

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Thara Larbi
Meya Abdallah
Saloua Hamzaoui
Emna Gouider
Mourad Ennafaa
Ali Harmel
Neziha Gouider
Kamel Bouslama
Mohamed Ben Dridi
Skander M'rad

Abstract

Background : 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.
Aim: To report a new case of neuroacanthocythosis
Case report: 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 choreaacanthocytosis, was done.
Conclusion: Neuro-acanthocytosis should be considered in any movement disorder in order to attempt a genetic counseling.

Keywords:

Movement disorder, acanthocytosis, chorea-acanthocytosis, neuroacanthocytosis

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