Department of Neurology II, Affiliated Hospital of Weifang Medical University, School of Clinical Medicine, Weifang Medical University, Weifang, China.
Department of Respiratory and Critical Care Medicine, Affiliated Hospital of Weifang Medical University, School of Clinical Medicine, Weifang Medical University, Weifang, China.
BMC Neurol. 2024 Feb 26;24(1):77. doi: 10.1186/s12883-024-03573-8.
CADASIL(Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)is an inherited small vessel disease caused by mutations in NOTCH3 gene. Although NOTCH3 has numerous hotspots of gene mutations, mutations in exons 9 are rare. The p.C484T gene mutation type associated with it has not been reported in any relevant cases yet. Furthermore, CADASIL patients rarely present with acute bilateral multiple subcortical infarcts.
We report the case of a Chinese female patient with CADASIL who experienced "an acute bilateral subcortical infarction" because of"hemodynamic changes and hypercoagulability". In genetic testing, we discovered a new Cys484Tyr mutation in exon 9, which has also been found in the patient's two daughters.
It is important to note that this discovery not only expands the mutation spectrum of Notch3 mutations in CADASIL patients, but also examines the mechanism behind acute bilateral subcortical infarction in CADASIL patients via case reviews and literature reviews, in order to provide some clinical recommendations for early intervention, diagnosis, and treatment in similar cases in the future.
CADASIL（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）是一种由 NOTCH3 基因突变引起的遗传性小血管疾病。虽然 NOTCH3 有许多基因突变热点，但 9 号外显子的突变很少见。与之相关的 p.C484T 基因突变尚未在任何相关病例中报道。此外，CADASIL 患者很少出现急性双侧多发性皮质下梗死。
我们报告了一例中国女性 CADASIL 患者，因“血流动力学变化和高凝状态”而出现“急性双侧皮质下梗死”。在基因检测中，我们发现了 9 号外显子中的一个新的 Cys484Tyr 突变，该突变也在患者的两个女儿中发现。
值得注意的是，这一发现不仅扩展了 CADASIL 患者 Notch3 突变的突变谱，还通过病例回顾和文献复习探讨了 CADASIL 患者急性双侧皮质下梗死的机制，为今后类似病例的早期干预、诊断和治疗提供了一些临床建议。
