title: Recurrent ischemic stroke in an adult with cystinosis: a clinical-pathological case.
abstract: A 32-year-old woman with infantile nephropathic cystinosis presented with cystinosis and recurrent ischemic stroke. The neuropathological description demonstrates that recurrent stroke was caused by intracranial stenosis and showed evidence of cystinosis brain involvement. There are few reports of cerebrovascular disease in patients with longstanding nephropathic cystinosis. This case reinforces that cerebrovascular disease can be a cause of neurological impairment and disability in patients with longstanding nephropathic cystinosis, with implications on primary stroke prevention strategies in these patients.
authors.affiliation: Stroke Unit, Neurosciences Department, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon, Portugal. Electronic address: gocecamel@yahoo.com.
authors.forename: Dulce
authors.initials: D
authors.lastname: Neutel
authors.forename: Ruth
authors.initials: R
authors.lastname: Geraldes
authors.forename: Pedro
authors.initials: P
authors.lastname: Pereira
authors.forename: António
authors.initials: A
authors.lastname: Gomes da Costa
authors.forename: José
authors.initials: J
authors.lastname: Pimentel
authors.forename: Teresa Pinho
authors.initials: TP
authors.lastname: e Melo
mesh_terms: D000328:Adult; D001344:Autopsy; D001706:Biopsy; D002545:Brain Ischemia / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D003554:Cystinosis / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D038524:Diffusion Magnetic Resonance Imaging; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D018810:Magnetic Resonance Angiography; D012008:Recurrence; D020521:Stroke / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy
keywords: Cystinosis; genetics; neuropathology; stroke