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Leukoencephalopathy, brain calcifications, and cysts (LCC): Two unique cases Open

Julia Grafstein, YOSHITAKE AOYAMA, Rena A. Godfrey, Colleen Evans Howe, Joshi Stephen , et al. · 2025

Leukoencephalopathy with brain calcifications and cysts (LCC), also known as Labrune Syndrome, is a rare cerebral microangiopathy caused by biallelic variants in the SNORD118 gene, which encodes the small nucleolar RNA (snoRNA) U8, …