CADASIL: two new cases with intracerebral hemorrhage

Abstract

Whether cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a risk factor for spontaneous intracerebral hemorrhage (ICH) and influences outcomes remains unclear. In this study, we report two cases of CADASIL presenting with cerebral hemorrhages. These cases suggest that a CADASIL vasculopathy by itself mainly results in ICH, as indicated by slight vascular risk factors and prominent neuroimaging abnormalities, suggesting that CADASIL should be considered a risk factor for ICH. Interestingly, decreased perihematomal edema was noted in ICH patients with CADASIL in this study.

Figure 1

Spontaneous cerebral hemorrhage in two patients with CADASIL. (A) Patient 1 carried the Arg544Cys NOTCH3 gene mutation and showed multiple white matter lesions, lacunar infarcts, numerous microbleeds (MB), and a cerebral hemorrhage (CH) lesion in the left thalamus on brain MRI. Two episodes of high blood pressure (11:00 to 11:30 and 17:30 to 18:00) were found using an ambulatory blood pressure monitor. (B) Brain images show three symptomatic CH lesions (CH1, CH2, CH3) and one asymptomatic cerebral hemorrhage (AsCH) in the left occipital lobe of patient 2, who carried the CGCT insertion in the NOTCH3 gene; multiple white matter lesions, lacunar infarcts and microbleeds were also shown by MRI. A skin biopsy showed deposits of granular osmiophilic material in the basement membranes of smooth muscle cells. In addition, an ambulatory blood pressure monitor revealed nocturnal hypertension and occasional daytime hypertension.

Figure 2

Evolution of hemorrhage and perihematomal edema in CADASIL and hypertension patients (HT). Minimal perihematomal edemas (yellow arrow) were noted in the cerebral hemorrhage associated with CADASIL (A, B) compared with the cerebral hemorrhage only associated with hypertension (C) at 1–3 days, 7 days and 14 days. Hemorrhage volume (red line) gradually decreased in both patients and showed no significant difference.