Leukoencephalopathy, calcifications, and cysts: Labrune syndrome

Radiology Case Reports

article

Andrew Waack¹  Jordan Norris¹  Kathryn Becker¹  Alastair Hoyt¹  Jason Schroeder¹ 

[1] Division of Neurosurgery, Department of Surgery, College of Medicine and Life Sciences, The University of Toledo

关键词: Leukoencephalopathy;    Cerebral calcifications;    Cerebral cysts;    Microangiopathy;    Ribosomopathy;    White matter;   

DOI  :  10.1016/j.radcr.2022.11.026

学科分类：生物化学工程

来源: University of Washington * Department of Radiology

【 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.

【 授权许可】

CC BY|CC BY-NC-ND