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KMID : 1197720220150020162
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대한파킨슨병 및 이상운동질환 학회지
2022 Volume.15 No. 2 p.162 ~ p.166
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Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review
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Sim Chun-Yang
Mukari Shahizon Azura Mohamed
Ngu Lock-Hock
Loh Chia-Yin
Remli Rabani
Ibrahim Norlinah Mohamed
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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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KEYWORD
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Fahr’s syndrome, Intracranial calcification, Labrune’s syndrome, Malaysia, SNORD118
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