Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review

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Abstract

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 with-out 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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APA

Sim, C. Y., Mukari, S. A. M., Ngu, L. H., Loh, C. Y., Remli, R., & Ibrahim, N. M. (2022). Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review. Journal of Movement Disorders, 15(2), 162–166. https://doi.org/10.14802/jmd.21120

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