背景:白质病变(WMLs)是大脑中的结构变化,在病理上表现为中枢神经系统的脱髓鞘。血管生成WML是最普遍的类型,主要与高龄和脑血管危险因素有关。相反,免疫原性WML,以多发性硬化症(MS)为代表,在年轻患者中更常见。区分这两种病因至关重要。此外,在一个家庭中有多个个体表现出WML的情况下,基因检测可以提供一个重要的诊断观点.
方法:一名25岁男性因反复头痛就诊于神经内科。他以前很健康,神经系统检查是阴性。脑磁共振成像(MRI)在T2加权和T2液体衰减反转恢复图像上显示脑室和皮质下区域周围广泛的白质高强度病变,模仿免疫原性疾病-MS。
方法:患者被诊断为卵圆孔未闭,这可以解释他的头痛综合症.基因检测揭示了患者及其父亲的SERPINC1基因中先前未识别的错义突变。特定的异常实验室发现是抗凝血酶III活性降低,减少可能是在患者及其父亲中观察到的多个颅内WML存在的根本原因。
方法:患者行经皮卵圆孔未闭封堵术,服用心内科医师推荐的抗血小板药物,术后随访1个月和6个月。
结果:虽然MRI上的病变在随访期间保持不变,与最初的表现相比,患者报告头痛明显减轻。
结论:这个案例介绍了一个关于脑WMLs病因的新观点,提示遗传性抗凝血酶缺乏症(ATD)可能导致血液成分改变,并且可能是某些无症状WML个体的潜在原因.
BACKGROUND: White matter lesions (WMLs) are structural changes in the brain that manifest as demyelination in the central nervous system pathologically. Vasogenic WMLs are the most prevalent type, primarily associated with advanced age and cerebrovascular risk factors. Conversely, immunogenic WMLs, typified by multiple sclerosis (MS), are more frequently observed in younger patients. It is crucial to distinguish between these 2 etiologies. Furthermore, in cases where multiple individuals exhibit WMLs within 1 family, genetic testing may offer a significant diagnostic perspective.
METHODS: A 25-year-old male presented to the Department of Neurology with recurrent headaches. He was healthy previously and the neurological examination was negative. Brain magnetic resonance imaging (MRI) showed widespread white matter hyperintensity lesions surrounding the ventricles and subcortical regions on T2-weighted and T2 fluid-attenuated inversion recovery images, mimicking immunogenic disease-MS.
METHODS: The patient was diagnosed with a patent foramen ovale, which could explain his headache syndrome. Genetic testing unveiled a previously unidentified missense mutation in the SERPINC1 gene in the patient and his father. The specific abnormal laboratory finding was a reduction in antithrombin III activity, and the decrease may serve as the underlying cause for the presence of multiple intracranial WMLs observed in both the patient and his father.
METHODS: The patient received percutaneous patent foramen ovale closure surgery and took antiplatelet drug recommended by cardiologists and was followed up for 1 month and 6 months after operation.
RESULTS: While the lesions on MRI remain unchanging during follow-up, the patient reported a significant relief in headaches compared to the initial presentation.
CONCLUSIONS: This
case introduces a novel perspective on the etiology of cerebral WMLs, suggesting that hereditary antithrombin deficiency (ATD) could contribute to altered blood composition and may serve as an underlying cause in certain individuals with asymptomatic WMLs.