Open access
Oct 2026
Case Report: Leukoencephalopathy with calcifications and cysts caused by novel biallelic SNORD118 variants in a childhood-onset patient with long-term follow-up
Labrune syndrome, also termed leukoencephalopathy with calcifications and cysts (LCC), is a rare autosomal recessive cerebral microangiopathy associated with pathogenic variants of the SNORD118 gene. Long-term clinical follow-up of childhood-onset LCC progressing into adulthood is limited in the literature....
Di Tian, Bin Chen, Wei Li et al.
· Frontiers in Neuroscience · 0 citations