Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis : A Case Report and Review
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 wit...
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The Korean Movement Disorder Society
2021
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Online Access: | http://ir.unimas.my/id/eprint/38093/1/Labrune%E2%80%99s%20Syndrome.pdf http://ir.unimas.my/id/eprint/38093/ https://www.e-jmd.org/journal/view.php?doi=10.14802/jmd.21120 |
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my.unimas.ir.380932022-03-15T02:30:52Z http://ir.unimas.my/id/eprint/38093/ Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis : A Case Report and Review Chun Yang, Sim Shahizon Azura, Mohamed Mukari Ngu, Lock-Hock Loh, Chia-Yin Rabani, Remli Norlinah, Mohamed Ibrahim RC Internal medicine 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. The Korean Movement Disorder Society 2021-12-24 Article PeerReviewed text en http://ir.unimas.my/id/eprint/38093/1/Labrune%E2%80%99s%20Syndrome.pdf Chun Yang, Sim and Shahizon Azura, Mohamed Mukari and Ngu, Lock-Hock and Loh, Chia-Yin and Rabani, Remli and Norlinah, Mohamed Ibrahim (2021) Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis : A Case Report and Review. Journal of Movement Disorders. pp. 1-5. ISSN 2093-4939 https://www.e-jmd.org/journal/view.php?doi=10.14802/jmd.21120 DOI:10.14802/jmd.21120 |
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RC Internal medicine Chun Yang, Sim Shahizon Azura, Mohamed Mukari Ngu, Lock-Hock Loh, Chia-Yin Rabani, Remli Norlinah, Mohamed Ibrahim Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis : A Case Report and Review |
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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. |
format |
Article |
author |
Chun Yang, Sim Shahizon Azura, Mohamed Mukari Ngu, Lock-Hock Loh, Chia-Yin Rabani, Remli Norlinah, Mohamed Ibrahim |
author_facet |
Chun Yang, Sim Shahizon Azura, Mohamed Mukari Ngu, Lock-Hock Loh, Chia-Yin Rabani, Remli Norlinah, Mohamed Ibrahim |
author_sort |
Chun Yang, Sim |
title |
Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis : A Case Report and Review |
title_short |
Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis : A Case Report and Review |
title_full |
Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis : A Case Report and Review |
title_fullStr |
Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis : A Case Report and Review |
title_full_unstemmed |
Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis : A Case Report and Review |
title_sort |
labrune’s syndrome presenting with stereotypy-like movements and psychosis : a case report and review |
publisher |
The Korean Movement Disorder Society |
publishDate |
2021 |
url |
http://ir.unimas.my/id/eprint/38093/1/Labrune%E2%80%99s%20Syndrome.pdf http://ir.unimas.my/id/eprint/38093/ https://www.e-jmd.org/journal/view.php?doi=10.14802/jmd.21120 |
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