Leukoencephalopathy with cerebral calcifications and cysts (LCC) is a neurological disorder characterized by the radiological triad of white matter abnormalities, intracranial calcifications and cystic lesions variable in size resulting from a diffuse cerebral microangiopathy. Typically, progressive focal neurological deficits and seizures are the first clinical manifestation, but the severity of symptoms can vary according to the size and location of the cystic lesions holding compressive effects on the surrounding brain tissue. The most common histopathological finding is diffuse microangiopathy, which might be associated to pathogenic mutations in SNORD118 gene causing Labrune syndrome. Similar neuroradiological appearances have been found in the Coats plus syndrome, a systemic disorder caused by a genetic diffuse microangiopathy that affects not only the brain but also the retina and multiple organs, with a more complex clinical picture that address the diagnosis; biallelic mutations in CTC1 gene, encoding the conserved telomere maintenance component 1 (CTC1), are responsible of this systemic disorder. The aim of this contribution is to review the existing literature focusing on the neuroimaging characteristics by reporting cases in which radiological findings were highly suggestive for LCC.

伴有脑钙化和囊肿的白质脑病 (LCC) 是一种神经系统疾病，其特征是由弥漫性脑微血管病引起的白质异常、颅内钙化和大小不一的囊性病变的放射学三联征。通常，进行性局灶性神经功能缺损和癫痫发作是第一个临床表现，但症状的严重程度会根据对周围脑组织产生压迫作用的囊性病变的大小和位置而有所不同。最常见的组织病理学发现是弥漫性微血管病，这可能与SNORD118 的致病突变有关引起Labrune综合征的基因。在 Coats plus 综合征中也发现了类似的神经放射学表现，这是一种由遗传性弥漫性微血管病引起的全身性疾病，不仅影响大脑，还影响视网膜和多个器官，具有更复杂的临床表现，可以解决诊断问题；编码保守端粒维持成分 1 (CTC1) 的 CTC1 基因中的双等位基因突变是导致这种全身性疾病的原因。这项贡献的目的是通过报告放射学发现对 LCC 具有高度提示性的病例，回顾现有文献，重点关注神经影像学特征。