La Tunisie medicale · 2011
[Neuroacanthocytosis: a diagnosis that should be considered].
Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Larbi Thara, Abdallah Meya, Hamzaoui Saloua, Gouider Emna, Ennafaa Mourad, Harmel Ali, Gouider Neziha, Bouslama Kamel, Ben Dridi Mohamed, M'rad Skander
Аннотация
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.
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.