RÉSUMÉ
Activated proteinC resistance is a frequent prothrombotic abnormality. In most cases it is due to factorV Leiden mutation by nucleotide G1691A substitution. This recently described thrombophilic defect of activated proteinC resistance has been postulated to be implicated in the pathogenesis of idiopathic intracranial hypertension (IIH). We report a case of factorV Leiden mutation in association with IIH and their likely link and implication in the management of IIH.
Sujet(s)
Résistance à la protéine C activée/génétique , Proaccélérine/génétique , Syndrome d'hypertension intracrânienne bénigne/étiologie , Acétazolamide/usage thérapeutique , Résistance à la protéine C activée/complications , Encéphalopathie ischémique/étiologie , Humains , Imagerie par résonance magnétique , Mâle , Adulte d'âge moyen , Syndrome d'hypertension intracrânienne bénigne/traitement médicamenteux , Thrombophlébite/étiologieRÉSUMÉ
Epilepsy has been rarely reported in patients with neurofibromatosis type 1 (formally known as von Recklinghausen disease), which may occur in 3 to 6% of cases. This condition is generally related to neuronal migration anomalies or cortical malformations. We report a case of temporal epilepsy secondary to temporal meningocele due to sphenoidal dysplasia in a patient who presented with neurofibromatosis type 1 and also discuss this association.