A new NOTCH3 mutation presenting as primary intracerebral haemorrhage

作者：Pradotto Luca^*; Orsi Laura; Daniele Dino; Caroppo Paola; Lauro Danilo; Milesi Alessandra; Sellitti Luigi; Mauro Alessandro

来源：Journal of the Neurological Sciences, 2012, 315(1-2): 143-145.

DOI：10.1016/j.jns.2011.12.003

• CADASIL
• PICH
• Cerebral haematoma
• Notch3
• Heparin
• Leukoarariosis

Primary intracerebral haemorrhages (PICH) are defined as haemorrhages within the brain parenchyma in the absence of readily identifiable causes. CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary vascular disease and its mainly clinical manifestations are early-onset infarcts. Spontaneous lobar haematomas are a rare occurrence. We report a very unusual presentation of CADASIL in a 65 year-old man carrying a new NOTCH3 mutation. The clinical onset of the disease was related to an intracerebral haematoma following colon surgery and causing a delirium. In brief, our report suggests that CADASIL must be considered in patient with PICH.

• 出版日期2012-4-15