Clinical and molecular landscape of paediatric cerebral and spinal cavernous malformations.

ABSTRACT: We aimed to decipher the natural history of paediatric cerebral and intraspinal medullary cavernous malformations and their genetic background, with an emphasis on the effect of mutational burden on their radiological features and haemorrhagic risk. We retrospectively collected clinical and radiological data and the natural history of the disease during the follow-up of all consecutive patients with cavernous malformations over the last 2 decades at a unique paediatric centre. We created an MRI atlas after lesion segmentation and normalization to perform voxel-based lesion symptom mapping. Targeted germline DNA sequencing of CCM1-3 genes and somatic lesions and targeted sequencing of RAS and PI3 K pathway genes were performed. In total, 257 patients carrying 786 brain and 14 spinal caverno

SUBMITTER: Benichi S 

PROVIDER: S-EPMC12596198 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature