Persistent vessel wall enhancement and progression of cerebral microbleeds in CADASIL: a case report

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most prevalent hereditary cerebral small vessel disease (cSVD), primarily caused by pathogenic variants in the NOTCH3 gene. Neuroimaging features, including white matter hyperintensities (WMH), lacunar infarcts, and cerebral microbleeds (CMBs), typically progress with disease advancement. However, the pathophysiological mechanisms underlying this neuroimaging progression remain poorly understood. Here we present a patient with a NOTCH3 mutation who exhibited persistent vessel wall enhancement on serial high-resolution vessel wall MRI (VWMRI), alongside progression of CMBs. This finding supports a critical role of blood-brain barrier (BBB) disruption in CADASIL pathophysiology. In conclusion, persistent intracranial vessel wall enhancement may be observed in patients with CADASIL. Further studies are needed to investigate the relationship between this imaging biomarker and clinical as well as neuroimaging outcomes.