Dulamea Adriana Octaviana, Lupescu Ioan Cristian, Lupescu Ioana Gabriela
Department of Neurology, Fundeni Clinical Institute, Bucharest, Romania.
Department of Radiology and Medical Imaging, Fundeni Clinical Institute, Bucharest, Romania.
Maedica (Bucur). 2019 Sep;14(3):305-309. doi: 10.26574/maedica.2019.14.3.305.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease caused by mutations in NOTCH3 gene, characterized by accumulation of a toxic protein in the small and medium size arterioles. Clinical manifestations of CADASIL include lacunar infarcts or, less frequently, large artery ischemic strokes, transient ischemic attacks, dementia, migraine and psychiatric disorders. Brain magnetic resonance imaging (MRI) usually shows multiple lacunar infarcts, diffuse leukoencephalopathy and cerebral microbleeds. The authors report the case of a 39-year-old Romanian woman who presented two transient ischemic attacks manifested with aphasia, headache and mild cognitive impairment. Brain MRI showed multiple isolated and confluent bilateral supratentorial hyperintense fluid-attenuated inversion recovery (FLAIR) and apparent diffusion coefficient (ADC) areas involving the subcortical and deep white matter, but also lenticular and caudate regions and normal aspects of the brain arteries on magnetic resonance angiography (MR-angiography). Differential diagnosis with other disorders affecting small cerebral vessels was performed. Transesophageal echocardiography showed presence of patent foramen ovale (PFO), with right-to-left shunt and contrast passage at Valsalva maneuver. Genetic testing revealed a pCys194Arg heterozygous mutation with C580T>C nucleotide's change on exon 4 of NOTCH 3 gene. The authors discuss the association of CADASIL to PFO and mild cognitive impairment as well as ongoing research for a therapeutic strategy.
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）是一种由NOTCH3基因突变引起的遗传性疾病，其特征是在中小动脉中有毒蛋白质的积累。CADASIL的临床表现包括腔隙性梗死，或较少见的大动脉缺血性卒中、短暂性脑缺血发作、痴呆、偏头痛和精神障碍。脑磁共振成像（MRI）通常显示多发腔隙性梗死、弥漫性白质脑病和脑微出血。作者报告了一例39岁罗马尼亚女性的病例，该患者出现两次短暂性脑缺血发作，表现为失语、头痛和轻度认知障碍。脑MRI显示双侧幕上多个孤立和融合的高信号液体衰减反转恢复（FLAIR）和表观扩散系数（ADC）区域，累及皮质下和深部白质，以及豆状核和尾状核区域，磁共振血管造影（MR血管造影）显示脑动脉正常。对影响脑小血管的其他疾病进行了鉴别诊断。经食管超声心动图显示存在卵圆孔未闭（PFO），有右向左分流，Valsalva动作时有造影剂通过。基因检测显示NOTCH 3基因第4外显子上存在pCys194Arg杂合突变，核苷酸变化为C580T>C。作者讨论了CADASIL与PFO和轻度认知障碍的关联以及正在进行的治疗策略研究。
