Sim Chun-Yang, Mukari Shahizon Azura Mohamed, Ngu Lock-Hock, Loh Chia-Yin, Remli Rabani, Ibrahim Norlinah Mohamed
Faculty of Medicine and Health Sciences, Universiti Malaysia Sarawak, Kota Samarahan, Malaysia.
Department of Radiology, Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Malaysia.
J Mov Disord. 2022 May;15(2):162-166. doi: 10.14802/jmd.21120. Epub 2021 Dec 24.
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.
拉布伦综合征，即伴有脑钙化和囊肿的白质脑病（LCC），是一种罕见的遗传性综合征，具有多种神经系统表现。精神症状和不自主运动的报道较少。我们报告一例19岁女性病例，最初被诊断为法尔综合征，该患者以急性精神病、异常行为和不自主运动前来就诊。她的脑部计算机断层扫描显示双侧颅内广泛钙化但无囊肿。基因检测在SNORD118基因中检测到两个复合杂合变异，即NR_033294.1 n.*9C>T和n.24C>T，从而确诊为LCC。我们讨论了LCC不断扩大的表型谱，并对这种罕见综合征的当前诊断和管理进行了文献综述。
