Department of Neurological Surgery, University of California Irvine, Irvine, CA, USA.
Division of Neurosurgery, Department of Surgery, University Health Network, Toronto, ON, USA.
BMC Neurol. 2022 Jan 5;22(1):10. doi: 10.1186/s12883-021-02531-y.
Leukoencephalopathy with brain calcifications and cysts (LCC; also known as Labrune syndrome) is a rare genetic microangiopathy caused by biallelic mutations in SNORD118. The mechanisms by which loss-of-function mutations in SNORD118 lead to the phenotype of leukoencephalopathy, calcifications and intracranial cysts is unknown.
We present the histopathology of a 36-year-old woman with ataxia and neuroimaging findings of diffuse white matter abnormalities, cerebral calcifications, and parenchymal cysts, in whom the diagnosis of LCC was confirmed with genetic testing. Biopsy of frontal white matter revealed microangiopathy with small vessel occlusion and sclerosis associated with axonal loss within the white matter.
These findings support that the white matter changes seen in LCC arise as a consequence of ischemia rather than demyelination.
脑钙化和囊肿性脑白质病（LCC；也称为拉布吕尼综合征）是一种罕见的遗传性微血管病，由 SNORD118 的双等位基因突变引起。SNORD118 功能丧失突变导致脑白质病、钙化和颅内囊肿表型的机制尚不清楚。
我们介绍了一位 36 岁女性的组织病理学特征，她表现为共济失调，神经影像学检查显示弥漫性白质异常、脑钙化和实质囊肿，基因检测证实诊断为 LCC。额叶白质活检显示小血管闭塞和硬化伴有白质内轴索丢失的微血管病。
这些发现支持 LCC 中所见的白质改变是由于缺血而不是脱髓鞘引起的。
