Focal Cerebral Arteriopathy of Childhood: Clinical and Imaging Correlates

Background and Purpose: Focal cerebral arteriopathy (FCA) of childhood with unilateral stenosis of the anterior circulation is reported to account for up to one-quarter of childhood arterial ischemic stroke, with stroke recurrence in 25% of cases. Limited knowledge regarding pathophysiology and outcome results in inconsistent treatment of FCA. Methods: Children with arterial ischemic stroke due to FCA between January 1, 2009, and January 1, 2019, were retrospectively identified at our institution which serves the US Pacific Northwest region. Electronic health record data, including neuroimaging studies, were reviewed, and the Pediatric Stroke Outcome Measure at 1 year was determined as the primary clinical end point. Results: Fifteen children were diagnosed with FCA, accounting for 19% of children with cerebral arteriopathies (n=77). Among children with FCA, the median age at the time of stroke was 6.8 years (Q1–Q3, 1.9–14.0 years). Four (20%) patients had worsening stroke, 3 of whom had concurrent infection. Three (20%) FCA cases were treated with steroids, one of whom had worsening stroke. Median Pediatric Stroke Outcome Measure at 1 year was 1.0 (Q1–Q3, 0.6–2.0). Variability in arteriopathy severity was observed within many patients. Patients with more severe arteriopathy using the Focal Cerebral Arteriopathy Severity Score had larger strokes and were more likely to have worsening stroke. The most common long-term neurological deficit was hemiparesis, which was present in 11 (73%) patients and associated with middle cerebral artery arteriopathy and infarcts. Conclusions: FCA may be less common than previously reported. Neuroimaging in FCA can help identify patients at greater risk for worsening stroke.

EARLY AGE ARTERIAL ISCHEMIC STROKE ASSOCIATED WITH MINERALIZING LENTICULOSTRIATAL ANGIOPATHY AND MILD TRAUMATIC BRAIN INJURY

Study aims: 1) to evaluate the significance of mineralizing angiopathy of lenticulostriate arteries (MALA) in the development of arterial ischemic stroke (AIS) in children; 2) to study clinical and neuroimaging signs of AIS that develops after a head injury and does not meet the criteria of known disease types. Material and methods: to achieve the first aim, groups were formed: 1) the main group – patients with AI, n=86, Me 2,9 years; control – healthy children, n=131, Me 3,2 years. In the compared groups, neurosonography (NSG) protocols were studied for MALA. For the second aim, anamnesis and data from a clinical neuroimaging examination of 106 patients with AIS (Me 2,9 years) were analyzed. Stroke type was identified by the Childhood Arterial Ischemic Stroke Standardized Classification and Diagnostic Evaluation (CASCADE). Results: MALA increases the risk of AIS (ОR 16,15 [95% CI 5,43–48,1]). Stroke that does not meet the criteria of 1–5 types according to CASCADE is often associated with MALA. Clinical of AIS in patients with MALA are early age and mild head trauma (F=6,9, R=0,73, p<0,0001); the onset is marked by the absence of fever, vomiting, seizures, Glasgow coma scale 13, improvement in the first week (F=8,49, R=0,546, p<0,0001). Neuroimaging signs are the basal ganglia lacunar infarct and the absence of cerebral arteriopathy according to magnetic resonance angiography (F=52,8, R=0,402, p<0,0001). The percentage of this type stroke in children with AIS is 26,4%. Conclusion: MALA is a risk factor of AIS in children. AIS in infants which is associated with mineralizing angiopathy of lenticulostriate arteries and mild head trauma is an independent type of stroke. For its verification, computed tomography or NSG are needed.

Cerebral arteriopathy in ACTA2 mutations: a spectrum of disease highlighted by a case of variable penetrance in two siblings

Until recently, cerebral arteriopathy due to heterozygous mutations of the ACTA2 gene was considered a variant of moyamoya disease. However, radiographic analysis of patients with these mutations reveals a distinctive angiographic appearance from that seen in moyamoya disease. Several heterozygous missense ACTA2 mutations have been implicated in the development of this distinct cerebrovascular entity; however, the penetrance and systemic manifestations of these mutations vary based on the location of the amino acid replacement within the α–smooth muscle actin protein. The severity of the phenotype may also differ among patients within a single mutation type. There is limited literature on the safety and efficacy of revascularization procedures for ACTA2 arteriopathy, which have been limited to those patients with known Arg179His mutations. The authors provide a review of the breadth of mutations within the ACTA2 literature and report a case of two siblings with de novo ACTA2 Arg258Cys mutations with differing clinical courses, highlighting the utility of indirect revascularization with 8-year follow-up data. This case highlights the importance of early recognition of the angiographic appearance of ACTA2 cerebral arteriopathy and performance of genetic testing, as the location of the mutation impacts clinical presentation and outcomes.