Aljaberi Kholoud, Ahli Amna, Palat Chirakkara Sudhir Kumar, Shatila Ahmed
Neurology Department, Sheikh Shakhbout Medical City, Abu Dhabi, ARE.
College of Medicine and Health Sciences, Khalifa University, Abu Dhabi, ARE.
Cureus. 2023 Jun 26;15(6):e40986. doi: 10.7759/cureus.40986. eCollection 2023 Jun.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare genetic disorder due to a NOTCH 3 mutation on chromosome 19 resulting in a small vessel disease that may mimic many other neurological disorders like migraine, stroke, transient ischaemic attack (TIA), dementia and psychiatric illnesses. The disease is confirmed by genetic testing and other investigations like MRI and skin biopsy are also helpful. Here, we present a 43-year-old male with a confirmed CADASIL through genetic testing, who was initially diagnosed as having multiple sclerosis due to recurrent attacks of focal neurological deficits in the form of weakness and vertigo and other progressive features like mental slowing and difficulties in performing the usual tasks at work, He had a strong family history of neurological illnesses from his mother's side that made us think of an alternative diagnosis.
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)是一种罕见的遗传性疾病,由19号染色体上的NOTCH 3突变引起,导致一种小血管疾病,可能会模仿许多其他神经系统疾病,如偏头痛、中风、短暂性脑缺血发作(TIA)、痴呆和精神疾病。该疾病通过基因检测确诊,MRI和皮肤活检等其他检查也有帮助。在此,我们报告一名43岁男性,经基因检测确诊为CADASIL,他最初因反复出现以无力和眩晕形式的局灶性神经功能缺损发作以及精神迟缓、工作中难以完成日常任务等其他进行性特征而被诊断为多发性硬化症。他母亲一方有很强的神经系统疾病家族史,这使我们考虑了另一种诊断。