Epileptic Disorders


Leukoencephalopathy with calcifications and cysts: a case study with long-term follow-up Volume 24, issue 6, December 2022


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1 Institute of Neurology and Neuropsychology; Department of Neurology, Tbilisi, Georgia
2 Medical Center In-Nova; Department of Neurosurgery, Tbilisi, Georgia
3 AVERSI Clinic; Department of Neuroradiology, Tbilisi, Georgia
4 Caucasus International University; Faculty of Medicine, Tbilisi, Georgia
Giorgi Lomidze
83/11, Vaja-Pshavela Ave. 0186, Tbilisi, Georgia

Leukoencephalopathy with calcifications and cysts (LCC), first described by P. Labrune in 1996 (Labrune syndrome), is an extremely rare disease caused by biallelic mutations in the SNORD118 gene, with more than 100 recorded cases worldwide [1-3]. The disease is characterized by the neuroradiological triad of oedematous leukoencephalopathy, cerebral calcifications, and parenchymal cyst formation [4]. In this study, we present the first case of LCC described in Georgia.A 34-year-old, right-handed [...]