Illustrations
Figure 1.
Follow-up EEG investigations. (A) Focal slowing in right frontal regions (arrows) (joint/combined [i.e. left and right] ear reference montage; low-frequency filter [LFF]: 0.1 sec, high-frequency filter [HFF]: 30 Hz, sensitivity [Sen]: 200 μV/cm) (2007, 23 y/o). (B) Focal slowing in the right frontal and fronto-central regions (arrows) and spike-wave complexes in the left temporal region (arrowheads) (common average montage; LFF: 0.3 sec, HFF: 30 Hz, Sen.: 150 μV/cm) (2013, 29 y/o). (C) Spike-wave complexes (arrowheads) in the left frontal, fronto-central, and sagittal-fronto-central region with the occasional emergence of the same patterns in the right hemisphere (common average montage; LFF: 0.1 sec, HFF: 30 Hz, Sen: 150 μV/cm) (2014, 30 y/o). (D) Spike-wave complexes (arrowheads) in the left fronto-central and frontal regions (common average montage; LFF: 0.3 sec, HFF: 70 Hz, Sen: 200 μV/cm) (2015, 31 y/o). (E) Sharp and slow wave (arrowhead) in the left frontal region (common average montage; LFF: 0.3 sec, HFF: 70 Hz, Sen: 200 μV/cm) (2018, 34 y/o).
Figure 1.
Figure 2.
Brain MRI. (A, B) Bilateral fronto-parietal cysts with marked lengths: axial T2W (A) and coronal FLAIR images (B) (2014, 30 y/o). (C) Axial T2W image with a fluid-fluid level in the cysts. (D) T1W C+ image with various degrees of cyst wall enhancement. (E) Coronal T2W image shows shunted parietal cysts with significant shrinkage on the left and a partial effect on the right side (arrow shows the shunt over the right parietal cyst). F) Coronal T2W image with cerebellar cysts (arrows) (2018, 30 y/o). G) CT image with cysts, bilateral basal calcifications and cysto-ventriculoperitoneal shunts (arrows) (2018, 34 y/o). H, I) Left temporal cyst volume growth rate: coronal T2W (H) and axial FLAIR images (I) (2014; cyst volume: 1 cm3 ). J) Axial T2W image (2016; cyst volume : 3.8 cm3 ). Coronal (K) and axial (L) T2W images (2018; cyst volume:8.8 cm3 ).
Figure 2.
Auteurs
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
Correspondence:
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 [...]