Ibrikji Sidonie, El Halabi Tarek, Yamout Bassem
American University of Beirut Medical Center, Department of Neurology, Beirut, Lebanon.
Case Rep Neurol Med. 2020 Feb 17;2020:4980847. doi: 10.1155/2020/4980847. eCollection 2020.
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is an inherited disorder caused by a mutation in the NOTCH 3 gene, characterized by early onset of subcortical lacunar infarcts in the absence of vascular risk factors and cerebral microbleeds. Homozygosity for the factor Methylenetetrahydrofolate Reductase (MTHFR) is also associated with lacunar stroke risk and cerebral small-vessel disease regardless of the homocysteine level. The coexistence of MTHFR C677T homozygosity and NOTCH 3 mutation has never been reported in the literature previously, and that brings up the challenge of antithrombotic treatment in the presence of cerebral microbleeds.
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NOTCH 3基因突变引起的遗传性疾病，其特征是在无血管危险因素和脑微出血的情况下早期出现皮质下腔隙性梗死。亚甲基四氢叶酸还原酶（MTHFR）纯合子也与腔隙性卒中风险和脑小血管疾病相关，而与同型半胱氨酸水平无关。此前文献中从未报道过MTHFR C677T纯合子与NOTCH 3突变并存的情况，这给存在脑微出血时的抗血栓治疗带来了挑战。
