title: Noonan phenotype associated with intracerebral hemorrhage and cerebral vascular anomalies: case report.
abstract: A case of a 19-year-old man with multiple characteristics of the Noonan phenotype and a massive intracerebral hemorrhage in the left putaminal region is presented. The hemorrhage was removed surgically, and the patient made a good recovery and was finally able to walk unassisted. Postoperative cerebral angiograms revealed various vascular anomalies, including a small aneurysm. To the best of our knowledge, this is the second detailed case report of an association of the Noonan phenotype with cerebral vascular anomalies presenting intracerebral hemorrhage. The etiology of this syndrome remains unknown but the possible causes of this rare association are discussed.
authors.affiliation: Department of Neurosurgery, Faculty of Medicine, University of Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Hara
authors.forename: T
authors.initials: T
authors.lastname: Sasaki
authors.forename: H
authors.initials: H
authors.lastname: Miyauchi
authors.forename: K
authors.initials: K
authors.lastname: Takakura
mesh_terms: D000328:Adult; D002543:Cerebral Hemorrhage / Q000209:etiology*; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000150:complications*; D008297:Male; D009634:Noonan Syndrome / Q000150:complications*; D010641:Phenotype