Department of Radiology, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai, Fuchu, Tokyo, 183-8561, Japan.
Department of Radiology, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan.
Jpn J Radiol. 2024 Feb;42(2):109-125. doi: 10.1007/s11604-023-01493-0. Epub 2023 Oct 17.
Cerebral small vessel disease (cSVD) refers to a group of pathological processes with various etiologies affecting the small vessels of the brain. Most cases are sporadic, with age-related and hypertension-related sSVD and cerebral amyloid angiopathy being the most prevalent forms. Monogenic cSVD accounts for up to 5% of causes of stroke. Several causative genes have been identified. Sporadic cSVD has been widely studied whereas monogenic cSVD is still poorly characterized and understood. The majority of cases of both the sporadic and monogenic types, including cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), typically have their onset in adulthood. Types of cSVD with infantile and childhood onset are rare, and their diagnosis is often challenging. The present review discusses the clinical and neuroimaging findings of monogenic cSVD from the prenatal to adolescent period of development. Early diagnosis is crucial to enabling timely interventions and family counseling.
脑小血管病（cSVD）是一组以各种病因影响脑小血管为特征的病理过程。大多数为散发性，年龄相关性和高血压相关性 sSVD 和脑淀粉样血管病是最常见的形式。单基因 cSVD 占中风原因的 5%。已经确定了几个致病基因。散发性 cSVD 已广泛研究，而单基因 cSVD 仍未得到充分描述和理解。大多数散发性和单基因类型的病例，包括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），通常在成年期发病。婴儿和儿童期发病的 cSVD 类型很少见，其诊断通常具有挑战性。本综述讨论了从产前到青少年发育时期的单基因 cSVD 的临床和神经影像学表现。早期诊断对于及时干预和家庭咨询至关重要。
