背景:伴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基因突变引起的脑内单基因遗传性小血管病。然而,CADASIL在1例患者中罕见复发,临床表现不同,一些不典型的临床表现容易导致临床医师的误诊。
■一名34岁的男性在2020年6月出现短暂的言语障碍,并伴有身体左侧无力1天。磁共振成像显示右半卵中心急性缺血性梗死,以及大脑中多个异常白质高信号。遗传测序鉴定了NOTCH3基因中的杂合突变。患者在2021年和2023年经历了反复发作,有不同的临床症状,包括视觉模糊,肢体感觉异常,和突然的认知功能障碍.
方法:CADASIL的诊断基于临床表现,成像结果,和基因报告。
■患者接受对症治疗,包括抗血小板聚集治疗,脂质调节,和斑块稳定,改善症状。
结果:在疾病过程中,经过药物治疗和康复锻炼,患者临床症状有明显改善。目前,病人正在密切跟进并定期接受相关检查。
结论:在这种罕见的情况下,我们发现CADASIL可以在具有不同临床症状的患者中多次复发,易导致临床误诊。临床医生应考虑在患有突发性典型神经功能障碍的年轻患者中使用CADASIL的可能性。
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is one kind of monogenic hereditary small-vessel disease in the brain caused by mutations in the NOTCH3 gene. However, it is rare for CADASIL to recur with different clinical manifestations in 1 patient, and some atypical clinical manifestations can easily lead to misdiagnosis by clinical physicians.
UNASSIGNED: A 34-year-old male presented with transient speech disorder accompanied by weakness in the left side of the body for 1 day in June 2020. Magnetic resonance imaging showed acute ischemic infarction in right centrum semiovale, along with multiple abnormal white matter hyperintensities in the brain. Genetic sequencing identified a heterozygous mutation in the NOTCH3 gene. The patient experienced recurrent episodes in 2021 and 2023, with varying clinical symptoms including visual blurring, abnormal limb sensation, and sudden cognitive dysfunction.
METHODS: The diagnoses of CADASIL is based on clinical manifestations, imaging results, and genetic reports.
UNASSIGNED: The patient was received symptomatic treatment including antiplatelet aggregation therapy, lipid regulation, and plaque stabilization, resulting in improved symptoms.
RESULTS: During the course of the disease, after medication treatment and rehabilitation exercise, the patient clinical symptoms have significantly improved. Currently, the patient is closely following up and regularly undergoing relevant examinations.
CONCLUSIONS: In this rare case, we found that CADASIL can recur multiple times in a patient with different clinical symptoms, which can easily lead to clinical misdiagnosis. Clinicians should consider the possibility of CADASIL in young patients with sudden typical neurological dysfunction.