Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome) case report: diagnosis and management of a rare neurological disease

Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome) case report: diagnosis and management of a rare neurological disease

Abstract Background Leukoencephalopathy with brain calcifications and cysts (LCC; also known as Labrune syndrome) is a rare genetic microangiopathy caused by biallelic mutations in SNORD118. The mechanisms by which loss-of-function mutations in SNORD118 lead to the phenotype of leukoencephalopathy,...

Full description

Bibliographic Details
Main Authors: Michelle Paff, Nardin Samuel, Noor Alsafwani, Darcia Paul, Phedias Diamandis, Seth A. Climans, Walter Kucharczyk, Mandy Yi Rong Ding, Andrew F. Gao, Andres M. Lozano
Format: Article
Language:English
Published: BMC 2022-01-01
Series:BMC Neurology
Subjects:
Labrune syndrome
Leucoencephalopathy
Intracranial cysts
Intracranial calcifications
Case report
Online Access:https://doi.org/10.1186/s12883-021-02531-y

Internet

https://doi.org/10.1186/s12883-021-02531-y

Similar Items