Leukoencephalopathy, calcifications, and cysts: Labrune syndrome

[摘要] 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.

[学科分类] 生物化学工程

[关键词] Leukoencephalopathy;Cerebral calcifications;Cerebral cysts;Microangiopathy;Ribosomopathy;White matter