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Background:BRCC3/MTCP1 deletions are associated with a rare familial moyamoya angiopathy with extracranial manifestations.Case: We report the case of an adolescent male presenting with progressive and symptomatic moyamoya angiopathy and severe dilated cardiomyopathy caused by a hemizygous deletion of BRCC3/MTCP1. He was treated for renovascular hypertension by left kidney homograft and right nephrectomy in infancy and had other syndromic features, including cryptorchidism, growth hormone deficiency, and facial dysmorphism. Due to worsening of the neurological and cardiac condition, he was treated by a direct superficial temporal artery to middle cerebral artery bypass to enable successful cardiac transplant without cerebral damage.Conclusions:BRCC3-related moyamoya is a devastating disease with severe heart and brain complications. This case shows that aggressive management with cerebral revascularization to allow cardiac transplant is feasible and efficient despite end-stage heart failure.

BackgroundHigh systolic blood pressure (SBP) after aneurysmal subarachnoid hemorrhage (aSAH) has been associated with an increased risk of rebleeding. It remains unclear if an SBP lowering strategy before aneurysm treatment decreases this risk without increasing the risk of a delayed cerebral ischemia (DCI). Therefore, we compared the rates of in-hospital rebleeding and DCI among patients with aSAH admitted in two tertiary care centers with different SBP management strategies.MethodsRetrospective cohort study. Consecutive patients from Utrecht and Toulouse admitted within 24 h after the aSAH onset were enrolled. In Toulouse, the target SBP before aneurysm treatment was ≤140 mm Hg, while, in Utrecht, an increased SBP was only treated in extreme situations. We compared SBP levels, the incidence of rebleeding within 24 h after admission, and DCI during hospitalization.ResultsWe enrolled 373 patients in Utrecht and 149 in Toulouse. The mean SBP on admission was similar but lower in Toulouse 4 h after admission (127.3 ± 17.4 vs. 138. ± 25.7 mmHg; p < 0.0001). After a median delay of 3.7 h (IQR, 2.3–7.4) from admission, 4 patients (3%) in Toulouse vs. 29 (8%) in Utrecht experienced a rebleeding. After adjustment for Prognosis on Admission of Aneurysmal Subarachnoid Hemorrhage (PAASH) score, aneurysm size, age, and delay from ictus to admission, the HR was 0.66 (95% CI: 0.23–1.92). Incidence of DCI was 18% in Toulouse and 25% in Utrecht (adjusted OR, 0.68; 95% CI: 0.41–1.11).ConclusionOur results suggest that an intensive SBP lowering strategy between admission and aneurysm treatment does not decrease the risk of rebleeding and does not increase the risk of DCI compared to a more conservative strategy.

Background and Purpose: Whether patients with both lobar and deep cerebral microbleeds (mixed CMB) have advanced cerebral amyloid angiopathy (CAA), hypertensive angiopathy (HA) or both is uncertain. To get insight into the underlying small vessel disease (SVD) associated with mixed CMB, we explored its association with cortical superficial siderosis (cSS), a key marker of CAA and other MRI markers of SVD in patients with intracerebral hemorrhage (ICH).Methods: Of 425 consecutive patients with acute ICH who had received brain MRIs, 260 had ≥1 CMB and were included in the analysis. They were categorized as strictly lobar CMB (suggesting CAA), strictly deep CMB (suggesting HA) or mixed CMB. Clinical and imaging characteristics were compared (1) between the three CMB groups and (2) within mixed CMB patients according to the symptomatic ICH location.Results: Overall, 111 (26%) patients had mixed CMB. Compared to strictly lobar CMB (n = 111) and strictly deep CMB (n = 38), patients with mixed CMB had a more severe burden of lacune, white matter hyperintensities and CMB. cSS was observed in 24.3% of patients with mixed CMB compared to 44.1% in strictly lobar CMB and 10.5% in strictly deep CMB (p < 0.0001). Among patients with mixed CMB, 44 (39.6%) had a lobar symptomatic ICH and 67 (60.4%) had a non-lobar ICH. Patients with non-lobar ICH were more likely to have hypertension, whereas those with lobar ICH were more likely to have cSS and chronic lobar ICH and had higher ratio lobar CMB count/total CMB count.Conclusions: Mixed CMB is frequently encountered in patients with ICH and appears as a heterogeneous group, suggesting that both CAA and HA may be contributing to mixed CMB. Neuroimaging markers including ICH location, cSS, and CMB distribution may indicate the predominant underlying vasculopathy, with potential prognostic implications.