Neurosurgery Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Eur J Neurol. 2020 Nov;27(11):2329-2332. doi: 10.1111/ene.14313. Epub 2020 Jun 2.
Although Labrune syndrome is a well-known disorder characterized by a typical neuroradiological triad, namely leukoencephalopathy, intracranial calcifications and cysts, there are no reports of systemic involvement in this disorder. This paper attempts to describe a peculiar clinical manifestation related to a novel mutation in the SNORD118 gene.
Clinical examination, brain and total-body imaging, and neurophysiological and ophthalmological investigations were performed. Amplification of the SNORD118 gene and Sanger sequencing were integrated to investigate potential causative mutations.
A 69-year-old woman, with a long history of episodes of vertigo and gait imbalance, was referred to our hospital for progressive cognitive and motor deterioration. Computed tomography and magnetic resonance imaging disclosed diffuse bilateral leukoencephalopathy in periventricular and deep white matter, widespread calcifications and numerous cysts in the brain, liver, pancreas and kidneys. The genetic analysis revealed two biallelic variants in the SNORD118 gene, one of which is novel (n.60G>C).
This is the first report of adult-onset Labrune syndrome with an unusual systemic involvement presenting a novel mutation in the SNORD118 gene.
虽然拉布吕尼综合征是一种以典型的神经影像学三联征（即脑白质病、颅内钙化和囊肿）为特征的已知疾病，但目前尚无该疾病发生全身受累的报道。本文试图描述一种与 SNORD118 基因的新型突变相关的特殊临床表现。
进行了临床检查、脑部和全身成像以及神经生理学和眼科检查。扩增 SNORD118 基因并进行 Sanger 测序，以研究潜在的致病突变。
一位 69 岁女性，长期反复发作眩晕和步态不稳，因进行性认知和运动功能恶化而被转至我院。计算机断层扫描和磁共振成像显示，脑室周围和深部白质弥漫性双侧脑白质病、脑内广泛钙化和多发囊肿，肝脏、胰腺和肾脏也存在多发囊肿。基因分析显示 SNORD118 基因存在两个纯合变异，其中一个为新型变异（n.60G>C）。
这是首例报道的成人起病的拉布吕尼综合征，具有不常见的全身受累表现，并存在 SNORD118 基因的新型突变。
