Diagnostic Imaging Unit, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Viale Oxford 81, 00133, Rome, Italy.
Neuroradiology Unit, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Viale Oxford 81, 00133, Rome, Italy.
Neurol Sci. 2021 Nov;42(11):4471-4487. doi: 10.1007/s10072-021-05560-0. Epub 2021 Sep 5.
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.
脑钙化和囊肿性脑白质病（LCC）是一种神经系统疾病，其影像学三联征为脑白质异常、颅内钙化和大小不等的囊状病变，由弥漫性脑微血管病引起。通常，进行性局灶性神经功能缺损和癫痫发作是首发临床表现，但症状的严重程度可能因囊性病变的大小和位置而异，这些病变对周围脑组织有压迫作用。最常见的组织病理学发现是弥漫性微血管病，可能与 SNORD118 基因突变有关，导致 LaBrune 综合征。在 Coats 综合征中也发现了类似的神经放射学表现，这是一种系统性疾病，由遗传弥漫性微血管病引起，不仅影响大脑，还影响视网膜和多个器官，其临床表现更为复杂，有助于诊断；CTC1 基因的双等位基因突变，该基因编码端粒维持成分 1（CTC1），是这种系统性疾病的罪魁祸首。本研究旨在通过报告影像学结果高度提示 LCC 的病例，回顾现有文献，重点关注神经影像学特征。
