Classic Case

Leukoencephalopathy with cysts and brain calcification (LCC), also known as Labrune syndrome, is a rare genetic condition stemming from biallelic mutations in small nucleolar RNA, C/D Box 118 (SNORD118). The clinical manifestations of LCC are in tandem with the location of cysts in cerebral lobes/deep gray nuclei, ranging from seizures to overt extrapyramidal symptoms. Labrune syndrome encompasses the triad of 1) extensive cerebral calcifications as shown in noncontrast CT and T2WI (A and B, orange arrows), 2) extensive white matter signal changes indicating leukoencephalopathy as demonstrated by periventricular and deep white matter T2 hyperintensities (B, blue arrows), and 3) clusters of cysts with varying sizes within the leukoencephalic white matter (B, white arrows). The cysts may bleed, causing accumulation of hemosiderin on the wall as shown on SWI (C, arrow). The classic 3 key findings warrant ophthalmologic evaluation to rule out retinal telangiectasia, which points toward Coats plus syndrome, a close radiologic differential to Labrune syndrome.