Systemic involvement in adult-onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome) with a novel mutation of the SNORD118 gene.,European Journal of Neurology

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Systemic involvement in adult-onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome) with a novel mutation of the SNORD118 gene.
European Journal of Neurology ( IF 5.1 ) Pub Date : 2020-05-13 , DOI: 10.1111/ene.14313
G Bonomo ₁ , E Monfrini _{2,

3} , L Borellini ₄ , R Bonomo ₅ , F Arienti _{2,

3} , M C Saetti _{2,

3} , A Di Fonzo _{2,

3} , M Locatelli _{1,

3,

6}

Affiliation

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.

中文翻译：

系统性参与具有SNORD118基因新突变的颅内钙化和囊肿（Labrune综合征）的成人发作性白质脑病。

尽管Labrune综合征是一种以典型的神经放射三联征为特征的众所周知的疾病，即白质脑病，颅内钙化和囊肿，但尚无系统性参与该疾病的报道。本文试图描述与SNORD118基因新突变有关的特殊临床表现。

更新日期：2020-05-13

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