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  • Title: [Familial cerebral cavernous angiomatosis].
    Author: Mouly S, Cohen L, Laplane D, Pierrot-Deseilligny C.
    Journal: Rev Neurol (Paris); 1996 Dec; 152(12):752-4. PubMed ID: 9205700.
    Abstract:
    Two patient with familial cavernous angiomatosis presenting with long lasting variable epilepsy with a poor therapeutic response and variable neurologic impairments are presented here. One of the numerous cavernous angiomas was resected in one case. This last patient remains asymptomatic. Familial cerebral cavernous angiomas are often numerous and disseminated in the brain, therefore clinical manifestations are very polymorphous. Moreover the course of these lesions is variable. Therefore MRI should be performed to every patient presenting with poorly understood neurological symptoms, focal or generalized epileptic seizures or absence in order to look for potentially imputable brain lesions. A reliable genetic marker might be helpful for diagnosis of this disease with a variable penetrance and autosomal dominant inheritance. Then a neurosurgical treatment should be carefully discussed if lesions are accessible and medications are poorly efficient with recurrent neurologic impairments or epilepsy.
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