Leukoencephalopathy with Calcifications and Cysts-The First Polish Patient with Labrune Syndrome

Brain Sciences
Magdalena Machnikowska-SokołowskaRafał Płoski

Abstract

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 SNORD118 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.

References

Feb 22, 2012·Annals of Indian Academy of Neurology·Ajay GulatiN Khandelwal
Jun 8, 2013·Journal of Medical Case Reports·Yaming WangYuhong Meng
Mar 17, 2017·Annals of Indian Academy of Neurology·Leena PahujaLaxmi Khanna
Apr 21, 2017·Pediatric Neurology·Alex J FayJan E Brunstrom-Hernandez
Sep 27, 2018·European Journal of Human Genetics : EJHG·Małgorzata RydzaniczRafał Płoski
Oct 9, 2020·American Journal of Medical Genetics. Part a·Yanick J CrowAndrew P Badrock

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Methods Mentioned

BETA
exome sequencing

Software Mentioned

Integrative Genomics Viewer ( IGV

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