Machnikowska-Sokołowska Magdalena, Pilch Jacek, Paprocka Justyna, Rydzanicz Małgorzata, Pollak Agnieszka, Kosińska Joanna, Gasperowicz Piotr, Gruszczyńska Katarzyna, Emich-Widera Ewa, Płoski Rafał
Department of Diagnostic Imaging, Radiology and Nuclear Medicine, Faculty of Medical Science in Katowice, Medical University of Silesia, 40-752 Katowice, Poland.
Department of Pediatric Neurology, Faculty of Medical Science in Katowice, Medical University of Silesia, 40-752 Katowice, Poland.
Brain Sci. 2020 Nov 18;10(11):869. doi: 10.3390/brainsci10110869.
Leukoencephalopathy with calcifications and cysts (LCC) is a triad of neuroradiological symptoms characteristic of Labrune syndrome, which was first described in 1996. For 20 years, the diagnosis was only based on clinical, neuroradiological and histopathological findings. Differential diagnosis included a wide spectrum of diseases. Finally, in 2016, genetic mutation in the gene was confirmed to cause Labrune syndrome. The authors describe a case of a teenage girl with progressive headaches, without developmental delay, presenting with calcifications and white matter abnormality in neuroimaging. Follow-up studies showed the progression of leukoencephalopathy and cyst formation. The first symptoms and initial imaging results posed diagnostic challenges. The final diagnosis was established based on genetic results. The authors discuss the possible therapy of LCC with Bevacizumab.
伴有钙化和囊肿的白质脑病（LCC）是Labrune综合征的一组神经放射学特征性症状，该综合征于1996年首次被描述。20年来，诊断仅基于临床、神经放射学和组织病理学检查结果。鉴别诊断包括多种疾病。最终，在2016年，该基因的基因突变被证实可导致Labrune综合征。作者描述了一例十几岁的女孩，有进行性头痛，无发育迟缓，神经影像学检查显示有钙化和白质异常。随访研究显示白质脑病进展并形成囊肿。最初的症状和影像学检查结果带来了诊断挑战。最终根据基因检测结果确诊。作者讨论了使用贝伐单抗治疗LCC的可能性。
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