Prevalence Of Moyamoya Disease Research Articles

Three Cases of Familial Moyamoya Disease with RASA1 Mutations—A Case Report

The prevalence of moyamoya disease (MMD) is relatively high in East Asia, whereas the susceptibility genes of MMD have not been identified. Here, we reported 3 patients diagnosed with MMD from 1 single family, including a 53-year-old mother (case 1) and her 32-year-old and 29-year-old daughters (cases 2 and 3). The younger daughter was diagnosed with cerebral hemorrhage. Computed tomographic angiogram showed the typical signs of MMD in 3 patients. Clinical whole-exome sequencing was performed in 3 daughters of case 1, and RASA1 mutations in chr5: 87,376,389 and NM_002890.2: c.2012-4C>T were determined to have the strongest correlation with MMD. RASA1 mutations were verified in case 1, husband of case 1 and the descendant of case 3 by using Sanger sequencing. According to the findings of literature review, this is the first study indicating the association between RASA1 mutations and MMD.

The risk for future cerebrovascular disease in pregnant women with Moyamoya disease: a nationwide population-based study in South Korea

BackgroundPhysiologic changes during pregnancy affect the development of postpartum cerebrovascular disease (CVD) in women with Moyamoya disease. Due to the rare prevalence of Moyamoya disease and its large regional variations, large-scale based studies on the risk of CVD after delivery have not been conducted. This study aimed to evaluate whether women with Moyamoya disease have an increased risk of CVD after delivery.MethodsResearch data was collected from the National Health Insurance Claims Database of the Health Insurance Review and Assessment Service. Patients who delivered in Korea from 2007 to 2014 were enrolled in this study. We classified women as having CVD if they were diagnosed with any of the following conditions between delivery and December 31, 2016; cerebral infarction (I63.X in the International Classification of Diseases-10th Revision [ICD-10]) and/or intracranial hemorrhage (I61.X, I62.X in ICD-10) and/or subarachnoid hemorrhage (I60.X in ICD-10). Women with Moyamoya disease were identified as having I67.5 in ICD-10. We matched the study cohort by the ratio of 1:10 to analyze the risk CVD occurrence. The matching technique applied in this study was based on the variables of age and parity. To evaluate the adjusted hazard ratio (HR) for CVD in women with Moyamoya disease, we used multivariate Cox proportional hazard regression.ResultsAmong a total of 3,611,216 Korean women who underwent delivered, we identified 412 women with Moyamoya disease diagnosis and 1420 age- and parity-matched women without Moyamoya disease (control). Compared to the control group, women with Moyamoya disease had a significantly higher rate of Cesarean section, overt DM, and essential hypertension (all p < 0.0001). Among women with Moyamoya disease, 55 (13.35%) women developed CVD within the follow-up postpartum period. The presence of Moyamoya disease was associated with an increased risk of CVD after delivery (adjusted HR 37.42; 95% confidence interval (CI) 17.50-80.02 within 2.3 years) after adjusting for pregnancy-induced hypertension, gestational diabetes mellitus, pregestational diabetes, chronic hypertension.ConclusionThis population based study showed that the occurrence rate of CVD after delivery was higher in women with Moyamoya disease than in those without. Therefore, careful and long-term postpartum surveillance is required for women with Moyamoya disease.

Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review

PurposeTo systematically review reported cases of Seckel syndrome (SS) and point out cases associated with central nervous system (CNS) vasculopathy and provide a summary of their clinical presentation, management, and outcomes including our illustrative case.MethodsWe conducted a search on the MEDLINE, PubMed, Google Scholar, and Cochrane databases using the keywords “Seckel + syndrome.” We identified 127 related articles reporting 252 cases of SS apart from our case. Moreover, we searched for SS cases with CNS vasculopathies from the same databases. We identified 7 related articles reporting 7 cases of CNS vasculopathies in SS patients.ResultsThe overall rate of CNS vasculopathy in SS patients is 3.16% (n = 8/253), where moyamoya disease (MMD) accounted for 1.97%. The mean age is 13.5 years (6–19 years), with equal gender distribution (M:F, 1:1). The most common presenting symptoms were headache and seizure followed by weakness or coma. Aneurysms were mostly located in the basilar artery, middle cerebral artery, and internal carotid artery, respectively. Regardless of the management approach, 50% of the cases sustained mild-moderate neurological deficit, 37.5% have died, and 12.5% sustained no deficit.ConclusionA high index of suspicion should be maintained in (SS) patients, and MMD should be part of the differential diagnosis. Prevalence of CNS vasculopathy in SS is 3.16% with a much higher prevalence of MMD compared to the general population. Screening for cerebral vasculopathy in SS is justifiable especially in centers that have good resources. Further data are still needed to identify the most appropriate management plan in these cases.

Incidence and prevalence of moyamoya disease in urban China: a nationwide retrospective cohort study

Background and objectiveMoyamoya disease (MMD) is an increasingly recognised cause of stroke, mainly described in East Asia. China is the largest nation in Asia, but few studies reported the epidemiology...

Outcome of Microsurgical Revascularization in Patients with Moyamoya Disease: First Report from the Iranian Population.

To report the outcome of microsurgical revascularization in patients with Moyamoya Disease (MMD) in Southern Iran. This cross-sectional study was conducted in Southern Iran during a 7-year period from 2009 to 2016. All the patients with Moyamoya Disease (confirmed with digital substraction angiography) who underwent microsurgical revascularization (extracranial-intracranial bypass or synangiosis) were included. All the patients were followed for at least 1 year and the outcome was measured using the Glasgow outcome scale (GOS) and modified Rankin scale (MRS). Overall we included 13 patients with 14 involved hemispheres undergoing direct and indirect revascularization. The mean age of the patients was 20.6±17.5 (ranging from 0.5 to 55) years and there were 5 (38.4%) males and 8 (61.6%) females. We did not have any unfavorable outcome defined as mortality and persistent vegetative state. We performed 12 (85.7%) superficial temporal artery (STA)-middle cerebral artery (MCA) bypass and 2 (14.3%) encephalo-myo-synangiosis (EMS) procedures. The symptoms improved in 7 (53.8%) patients and remained as the preoperative course in 5 (38.5%) patients. Only 1 (7.7%) patient developed immediate postoperative vasospasm and brain swelling, and was managed successfully with decompressive craniectomy and subsequent cranioplasty (GOS=5, MRS=0). This is the first study to report the safety, efficacy and outcome of the direct (STA-MCA bypass) and indirect (EMS) revascularization in patients with MMD in the Iranian population. As the prevalence of MMD is low in Iranian population, the experience and technique remains in its infancy and further advancements in the field is required.

Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis.

Moyamoya disease (MMD) is a chronic, occlusive cerebrovascular disease characterized by progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. Although its etiology remains unknown, recent genetic studies identified RNF213 in the 17q25-ter region as an important susceptibility gene of MMD among East Asian populations. Possibly because of genetic differences, MMD is relatively common in people living in East Asian countries such as Korea and Japan, compared to those in the Western Hemisphere. The prevalence of MMD appears to be slightly lower among Chinese, compared to Koreans or Japanese. There are two peaks of incidence with different clinical presentations, at around 10 years and 30-40 years. The peak appears to occur later in women than men. In children, ischemic symptoms, especially transient ischemic attacks, are predominant. Intellectual decline, seizures, and involuntary movements are also more common in this age group. In contrast, adult patients present with intracranial hemorrhage more often than pediatric patients. In patients with MMD, intracerebral hemorrhage is more often accompanied by intraventricular hemorrhage than in patients with hypertensive intracerebral hemorrhage. These different age peaks and different clinical presentations in each age group are also observed in MMD patients in the USA. Catheter angiography is the diagnostic method of choice. Magnetic resonance (MR) angiography and computed tomographic angiography are noninvasive diagnostic methods. High-resolution vessel wall MR imaging also helps diagnose MMD by revealing concentric vessel wall narrowing with basal collaterals.

Epidemiological and Clinical Features of Moyamoya Disease in the USA

Background: An increasing number of cases of Moyamoya disease have been reported in the Japanese and US literature. We performed this study to quantify the rise in the prevalence of Moyamoya disease and to study the unique epidemiological and clinical features in the USA that may explain a change in incidence. Methods: We analyzed data derived from patients entered in the Nationwide Inpatient Sample between 2005 and 2008, using ICD-9 codes for Moyamoya disease. Data including patient age, gender, ethnicity, secondary diagnosis, medical complications, and hospital costs were obtained. Results: From 2005 to 2008 in the USA, there were an estimated 7,473 patients admitted with a primary or secondary diagnosis of Moyamoya disease. Patients admitted with Moyamoya disease were most frequently women and Caucasian. Overall, ischemic stroke was the most common reason for admission. Hemorrhagic stroke was more frequent in adults compared with children, 18.1 versus 1.5% (p < 0.05). Conclusion: The number of patients identified and admitted with Moyamoya disease has risen dramatically in the last decade. This study can lead to a better understanding of the disease pattern and healthcare consequences in the USA and suggests that pathophysiologic differences in Moyamoya disease may exist.