Waack Andrew, Norris Jordan, Becker Kathryn, Hoyt Alastair, Schroeder Jason
Division of Neurosurgery, Department of Surgery, College of Medicine and Life Sciences, The University of Toledo, 3000 Arlington Ave, Toledo, OH 43614, USA.
Radiol Case Rep. 2022 Nov 28;18(2):584-590. doi: 10.1016/j.radcr.2022.11.026. eCollection 2023 Feb.
Labrune syndrome is an extremely rare disorder characterized by a radiological triad of leukoencephalopathy, cerebral calcifications, and cysts. The condition is the result of an autosomal mutation in the SNORD118 gene, a non-protein encoding gene that mediates rRNA synthesis. The mutation results selectively in cerebral microangiopathy through an unknown mechanism. Radiological imaging is central to diagnosing the condition, but, because the condition is so rare, there is no standard treatment paradigm. We describe the longitudinal progression of a case of Labrune syndrome, including the radiological diagnosis and imaging and surgical management.
拉布伦综合征是一种极为罕见的疾病，其特征为白质脑病、脑钙化和囊肿组成的影像学三联征。该病是由SNORD118基因的常染色体突变导致的，该基因是一种非蛋白质编码基因，可介导rRNA合成。这种突变通过未知机制选择性地导致脑微血管病变。影像学检查对于诊断该病至关重要，但由于该病极为罕见，尚无标准的治疗模式。我们描述了一例拉布伦综合征病例的纵向病程，包括影像学诊断、成像及手术治疗。
