Paediatric Oncology

Jun 23, 2023 | frontiersin.org | De Marco |Paediatric Oncology |Institut Imagine

IntroductionLeukoencephalopathy with calcifications and cysts (LCC), also referred to as Labrune syndrome, is a rare disease, which was described for the first time in 1996 (1) and has only recently been genetically characterized (2, 3). LCC is an inherited white matter disease caused by biallelic mutations in SNORD118 (OMIM:616663), encoding the box C/D small nucleolar ribonucleic acid (snoRNA) U8 (3), a non-coding RNA vital for ribosomal RNA homeostasis.