Neuroacanthocytosis: a diagnosis that should be considered
Larbi, T.; Abdallah, M.; Hamzaoui, S.; Gouider, E.; Ennafaa, M.; Harmel, A.; Gouider, N.; Bouslama, K.; Ben Dridi, M.; M'rad, S.
La Tunisie Medicale 89(3): 282-284
2011
ISSN/ISBN: 0041-4131 PMID: 21387234 Document Number: 649297
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 choreaacanthocytosis, was done. Neuro-acanthocytosis should be considered in any movement disorder in order to attempt a genetic counseling.
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