A new NOTCH3 mutation presenting as primary intracerebral haemorrhage.
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.
Division of Neurology and Neurorehabilitation, San Giuseppe Hospital, IRCCS Istituto Auxologico Italiano, Piancavallo (VB), Italy. lucaguglielmo.pradotto@unito.it
Luca
L
Pradotto
Laura
L
Orsi
Dino
D
Daniele
Paola
P
Caroppo
Danilo
D
Lauro
Alessandra
A
Milesi
Luigi
L
Sellitti
Alessandro
A
Mauro
D000368:Aged; D002543:Cerebral Hemorrhage / Q000175:diagnosis* / Q000235:genetics*; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch