[Vascular leukoencephalopathy in patients without vascular risk factor or NOTCH3 mutation: clinical and radiological findings].

[cadasil]

White matter lesions seen on MR scan reflect small vessel disease of the brain ; increasing age and high blood pressure are the main risk factors . In young patients without vascular risk factors , screening for CADASIL mutation has to be done . Our aim was to describe clinical as well as radiological features of a series of patients without NOTCH 3 mutation with severe vascular leukoencephalopathy not explained by the presence of vascular risk factors .Inclusion criteria were grade 3 leukoencephalopathy according to the Fazekas scale , age <70 years at onset , and negative screening for NOTCH 3 gene . Patients with severe vascular risk factors or atherosclerosis were excluded . Clinical and MRI findings were analysed .Eight patients (four men ) were included , five did not have any vascular risk factor . Mean age at onset was 59 .5 years . Initial symptoms were progressive in six cases of eight cases . They consisted of astasia-abasia and progressively worsened ; of note one patient died 4 years after disease onset . Cerebral MRI disclosed marked atrophy in five patients out of eight , temporal lobe (two out of eight ) and external capsule (five out of eight ) involvement was moderate . Four patients did not have any other atherosclerosis lesion . Seven out of eight had no retinal microangiopathy . High blood pressure was identified in two patients .The identification of vascular leukoencephalopathy in young patients without any vascular risk factors should lead the clinician to perform a complete work-up to search for treatable conditions including high blood pressure . Patients with vascular leukoencephalopathy usually present with astasia-abasia . In this context , cerebral MRI , can not perfectly discriminate between patients with CADASIL from those with acquired small -vessel disease of the brain so that sequencing of NOTCH 3 gene exons 2 -24 is recommended .