RÉSUMÉ
Neurofibromatosis type (NF1) can virtually affect any organ, presenting most frequently with "cafe au lait" spots and neurofibromas. Vasculopathy is a known complication of NF1, but cerebrovascular disease is rare. We report the case of a 51-year-old man admitted to the hospital with a history of stroke four months before admission. On physical examination, he presented various "cafe au lait" spots and cutaneous neurofibromas. Neurologic examination demonstrated right-sided facial paralysis, right-sided hemiplegia, and aphasia. Computed tomography scan of head showed hypodense areas in the basal ganglia and centrum semiovale. Radiographs of cranium and cervical spine showed basilar impression. Angiography revealed complete occlusion of both vertebral and left internal carotid arteries, and partial stenosis of the right internal carotid artery. A large network of collateral vessels was present (moyamoya syndrome). It is an uncommon case of occlusive cerebrovascular disease associated with NF1, since most described in the literature are in young people, and tend to spare the posterior cerebral circulation. Basilar impression associated with this case may be considered a pure coincidence, but rare cases of basilar impression and NF1 have been described.
Sujet(s)
Humains , Mâle , Adulte d'âge moyen , Angiopathies intracrâniennes/étiologie , Neurofibromatose de type 1/complications , Platybasie/étiologie , Angiopathies intracrâniennes/diagnostic , Maladie de Moya-Moya , Neurofibromatose de type 1/diagnostic , Platybasie/diagnostic , SyndromeRÉSUMÉ
Apresenta-se um caso de rara associaçäo entre osteogenesis imperfecta tarda (tipo l da classificaçäo de Sillence) e invaginaçäo basilar, discutindo alguns dos seus aspectos clínicos
Sujet(s)
Adulte d'âge moyen , Humains , Femelle , Ostéogenèse imparfaite/complications , Platybasie/étiologieRÉSUMÉ
Descreve-se um caso impressäo basilar manifesto com síndrome piramidal e cerebelar bilateral, déficit sensitivo no hemicorpo direito e fasciculaçöes abundantes na face, língua, masseteres, esternocleidomastoideus e trapézios, enfatizando a sua etiologia compressivo-isquêmica