Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review
Journal of Movement Disorders
;
: 162-166, 2022.
Artigo
em Inglês
| WPRIM
| ID: wpr-926098
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 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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Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Inglês
Revista:
Journal of Movement Disorders
Ano de publicação:
2022
Tipo de documento:
Artigo
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