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Chun-Yang Sim 1 Article
Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review
Chun-Yang Sim, Shahizon Azura Mohamed Mukari, Lock-Hock Ngu, Chia-Yin Loh, Rabani Remli, Norlinah Mohamed Ibrahim
J Mov Disord. 2022;15(2):162-166.   Published online December 24, 2021
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AbstractAbstract PDFSupplementary Material
Labrune’s syndrome, or leukoencephalopathy with brain calcifications and cysts (LCC), is a rare genetic syndrome with variable neurological presentations. Psychiatric manifestations and involuntary movements are uncommonly reported. We report the case of a 19-year-old female, initially diagnosed with Fahr’s syndrome, who presented to us with acute psychosis, abnormal behavior and involuntary movements. Her brain computed tomography showed extensive bilateral intracranial calcifications without cysts. Genetic testing detected two compound heterozygous variants, NR_033294.1 n.*9C>T and n.24C>T, in the SNORD118 gene, confirming the diagnosis of LCC. We discuss the expanding phenotypic spectrum of LCC and provide a literature review on the current diagnosis and management of this rare syndrome.


Citations to this article as recorded by  
  • Leukoencephalopathy, calcifications, and cysts: Labrune syndrome
    Andrew Waack, Jordan Norris, Kathryn Becker, Alastair Hoyt, Jason Schroeder
    Radiology Case Reports.2023; 18(2): 584.     CrossRef
  • Leukoencephalopathy with calcifications and cysts: A case report with literature review
    Jingya Li, Chun Li, Qing Zhang, Chao Qiu
    Neurological Sciences.2023; 44(8): 2715.     CrossRef
  • Adult-Onset Genetic Leukoencephalopathies With Movement Disorders
    Mu-Hui Fu, Yung-Yee Chang
    Journal of Movement Disorders.2023; 16(2): 115.     CrossRef
  • Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature
    Davide Politano, Guido Catalano, Elena Pezzotti, Costanza Varesio, Fabio Sirchia, Antonella Casella, Elisa Rognone, Anna Pichiecchio, Renato Borgatti, Simona Orcesi
    Genes.2023; 14(9): 1817.     CrossRef
  • Case report: Clinical and neuroradiological longitudinal follow-up in Leukoencephalopathy with Calcifications and Cysts during treatment with bevacizumab
    Elena Scaffei, Bianca Buchignani, Rosa Pasquariello, Paola Cristofani, Raffaello Canapicchi, Laura Biagi, Flavio Giordano, Emanuela De Marco, Yanick J. Crow, Roberta Battini
    Frontiers in Neurology.2023;[Epub]     CrossRef

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