ABSTRACT NUMBER: ESOC2026A1844 RECURRENT INTRACEREBRAL HAEMORRHAGE AS PRESENTATION OF CADASIL: A CASE REPORT

Abstract Background and aims Intracerebral haemorrhage (ICH) is an uncommon manifestation of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and has been reported predominantly in East Asian populations. When ICH occurs in CADASIL, it is typically subcortical and frequently associated with vascular risk factors, particularly hypertension. A recent systematic review reported that among 516 CADASIL patients recruited from the British National Referral Clinic, only 10 experienced ICH, with recurrent haemorrhage documented in a single individual. Most reported cases of ICH were associated with cysteine-altering NOTCH3 mutations. We describe a European patient with CADASIL presenting with multiple recurrent intracerebral haemorrhages. Methods A 51-year-old woman from Slovakia, with no known family history of cerebrovascular disease, first presented in April 2021 with acute left arm weakness due to a right deep haemorrhage in the context of hypertension. Secondary causes of hypertension were excluded, and intracranial vascular imaging was normal. Despite being on antihypertensives she re-presented in March 2025 with a left temporal subcortical haemorrhage, followed by a right temporal lobe haemorrhage in May 2025, again associated with hypertension. Several months later, she required intensive care admission following a fourth left subcortical haemorrhage. Extensive investigations, including evaluation for vasculitis, were negative. Results Neuroimaging demonstrated severe cerebral small vessel disease with extensive ischaemic changes and multiple micro- and macrohaemorrhages, with preserved large- and medium-sized vessels. Genetic testing identified a heterozygous likely pathogenic NOTCH3 variant confirming the diagnosis of CADASIL. Conclusions CADASIL should be considered in young patients presenting with recurrent intracerebral haemorrhage, even in the presence of hypertension. Conflict of interest Nothing to disclose