- Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review
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Chun-Yang Sim, Shahizon Azura Mohamed Mukari, Lock-Hock Ngu, Chia-Yin Loh, Rabani Remli, Norlinah Mohamed Ibrahim
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J Mov Disord. 2022;15(2):162-166. Published online December 24, 2021
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DOI: https://doi.org/10.14802/jmd.21120
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 Abstract
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- 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.
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Citations
Citations to this article as recorded by  - Case report: Spontaneous improvement and treatment considerations in leukoencephalopathy with calcifications and cysts
Shanice Beerepoot, Hilko Ardon, Anneke Niers, Marjo S. van der Knaap
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Frontiers in Neurology.2023;[Epub] CrossRef
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