[Neuroacanthocytosis: a diagnosis that should be considered]
Thara Larbi1, Meya Abdallah, Saloua Hamzaoui
1Service de médecine interne, CHU Mongi Slim Sidi Daoud, Tunis, Tunisie.
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.
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