title: Intracerebral haemorrhage as first manifestation of pseudoxanthoma elasticum.
abstract: Pseudoxanthoma elasticum (PXE), a rare inherited, progressive connective tissue disorder, is an uncommon cause of ischemic stroke, mostly due to arterial occlusive small vessel disease. Intracranial haemorrhage rarely occurs in PXE. We report a patient with cerebral bleeding as the first manifestation of PXE, which has not been described before. This atypical presentation led to delayed diagnosis, which was not made until 3 years after the haemorrhage. PXE is a rare but noteworthy cause of ischemic and haemorrhagic stroke and should be considered in young patients lacking vascular risk factors.
authors.affiliation: Department of Neurology, University Hospital Zuerich, Frauenklinikstr. 26, 8091 Zuerich, Switzerland. anbo74@mac.com
authors.forename: Andreas
authors.initials: A
authors.lastname: Bock
authors.forename: Guido
authors.initials: G
authors.lastname: Schwegler
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D002533:Cerebral Angiography; D004244:Dizziness / Q000209:etiology; D006801:Humans; D020300:Intracranial Hemorrhages / Q000209:etiology / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D010291:Paresis / Q000209:etiology; D011561:Pseudoxanthoma Elasticum / Q000150:complications / Q000473:pathology*; D020521:Stroke / Q000209:etiology; D014057:Tomography, X-Ray Computed; D014832:Voice Disorders / Q000209:etiology