Pescini F, Sarti C, Pantoni L, Mangiafico S, Bianchi S, Dotti M T, Federico A, Inzitari D
Department of Neurological and Psychiatric Sciences, University of Florence, Florence, Italy.
Acta Neurol Scand. 2006 Jan;113(1):62-3. doi: 10.1111/j.1600-0404.2005.00539.x.
The presence of large vessels malformations has not been reported in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). We describe a CADASIL patient in whom a brain cerebellar arteriovenous malformation was revealed by magnetic resonance (MR) imaging. An MR angiogram documented also an aneurysm along the right intracranial vertebral artery at the junction with the posterior-inferior cerebellar artery. The aneurysm was successfully treated by means of endovascular coil embolization. No neurological complication occurred in our patient during the angiographic procedure. In this case, in addition to an incidental coexistence of CADASIL and large vessels abnormalities, a causal role of the Notch pathway alteration could be hypothesized. Dysregulation of the Notch pathway is linked to several human diseases besides CADASIL. In one of these (the Alagille syndrome) intracranial aneurysms are reported. This hypothesis contrasts however with the absence of similar reports in other CADASIL cases and needs corroboration in large series.
在伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）中，尚未有大血管畸形的相关报道。我们描述了一名CADASIL患者，其脑小脑动静脉畸形通过磁共振（MR）成像得以揭示。MR血管造影还记录了右颅内椎动脉与小脑后下动脉交界处的一个动脉瘤。该动脉瘤通过血管内线圈栓塞术成功治疗。在血管造影过程中，我们的患者未发生神经并发症。在这种情况下，除了CADASIL与大血管异常偶然并存外，可以推测Notch信号通路改变具有因果作用。Notch信号通路失调除了与CADASIL相关外，还与多种人类疾病有关。在其中一种疾病（阿拉吉列综合征）中，有颅内动脉瘤的报道。然而，这一假设与其他CADASIL病例中缺乏类似报道的情况相矛盾，需要在大量病例系列中得到证实。
