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The term Moyamoya , or "puff of smoke" in Japanese , was first used in 1969 by Suzuki and Takaku to describe the classical appearance of collateral blood vessels in response to progressive vascular stenosis of distal internal carotid artery (ICA). Such condition may result in various clinical presentations ranging from strokes to developmental delays. In order to cease the progression of such stenotic vasculopathy, several means of revascularization have been developed over the years. In this paper we present a case of a two-year-old girl with history of myelomeningocele repair and ventriculoperitoneal shunt insertion followed by manifestation of Moyamoya syndrome later in childhood as an evidence of revascularization through a burr hole. To our knowledge, this paper is the first of its kind to report such findings in one patient. Moreover, this paper provides a historical perspective on the development of different types of revascularization techniques., (© 2024. The Author(s).)

Objective: Perioperative stroke is a major complication of revascularization surgery in patients with moyamoya. Vomiting is common after neurosurgical procedures and may result in acute changes in intracranial pressure and cerebral blood flow. The authors instituted a standardized perioperative nausea and vomiting protocol for children with moyamoya undergoing indirect bypass surgery at their institution and analyzed its association with perioperative stroke. They hypothesized that instituting a standardized perioperative nausea and vomiting protocol would be associated with reduction in the number of perioperative strokes in children with moyamoya undergoing indirect bypass surgery., Methods: The authors retrospectively reviewed consecutive cases of children and young adults with moyamoya who underwent indirect bypass surgery before and after implementation of a new perioperative nausea and vomiting protocol at a single institution. They compared the rate of strokes in the perioperative period (postoperative days 0 and 1) in the 31 months following implementation to 31 months prior to implementation using Fisher's exact test., Results: The median ages pre- and postimplementation were 8.5 (IQR 4-12) years and 8.3 (IQR 5-15) years, respectively. There were no significant differences between the cohorts in disease severity or other potentially confounding factors. In the 31 months prior to initiation of the perioperative nausea and vomiting protocol, there were 5 strokes in 137 surgically treated hemispheres (3.6%). After initiation of the protocol, there were no strokes in 114 surgically treated hemispheres (p = 0.065)., Conclusions: Instituting a standardized perioperative nausea and vomiting protocol was associated with reduction in perioperative strokes in children with moyamoya treated with indirect bypass surgery.

Background: Recent studies suggest that cerebral revascularization surgery may be a safe and effective therapy to reduce stroke risk in patients with sickle cell disease and moyamoya syndrome (SCD-MMS)., Methods: We performed a multicenter, retrospective study of children with SCD-MMS treated with conservative management alone (conservative group)-chronic blood transfusion and/or hydroxyurea-versus conservative management plus surgical revascularization (surgery group). We monitored cerebrovascular event (CVE) rates-a composite of strokes and transient ischemic attacks. Multivariable logistic regression was used to compare CVE occurrence and multivariable Poisson regression was used to compare incidence rates between groups. Covariates in multivariable models included age at treatment start, age at moyamoya diagnosis, antiplatelet use, CVE history, and the risk period length., Results: We identified 141 patients with SCD-MMS, 78 (55.3%) in the surgery group and 63 (44.7%) in the conservative group. Compared with the conservative group, preoperatively the surgery group had a younger age at moyamoya diagnosis, worse baseline modified Rankin scale scores, and increased prevalence of CVEs. Despite more severe pretreatment disease, the surgery group had reduced odds of new CVEs after surgery (odds ratio = 0.27, 95% confidence interval [CI] = 0.08-0.94, p = .040). Furthermore, comparing surgery group patients during presurgical versus postsurgical periods, CVEs odds were significantly reduced after surgery (odds ratio = 0.22, 95% CI = 0.08-0.58, p = .002)., Conclusions: When added to conservative management, cerebral revascularization surgery appears to reduce the risk of CVEs in patients with SCD-MMS. A prospective study will be needed to validate these findings., (© 2023 Wiley Periodicals LLC.)

Introduction: There is no clear consensus regarding the technique of surgical revascularization for moyamoya disease and syndrome (MMD/MMS) in the pediatric population. Previous meta-analyses have attempted to address this gap in literature but with methodological limitations that affect the reliability of their pooled estimates. This meta-analysis aimed to report an accurate and transparent comparison between studies of indirect (IB), direct (DB), and combined bypasses (CB) in pediatric patients with MMD/MMS., Methods: In accordance with PRISMA guidelines, systematic searches of Medline, Embase, and Cochrane Central were undertaken from database inception to 7 October 2022. Perioperative adverse events were the primary outcome measure. Secondary outcomes were rates of long-term revascularization, stroke recurrence, morbidity, and mortality., Results: Thirty-seven studies reporting 2460 patients and 4432 hemispheres were included in the meta-analysis. The overall pooled mean age was 8.6 years (95% CI: 7.7; 9.5), and 45.0% were male. Pooled proportions of perioperative adverse events were similar between the DB/CB and IB groups except for wound complication which was higher in the former group (RR = 2.54 (95% CI: 1.82; 3.55)). Proportions of post-surgical Matsushima Grade A/B revascularization favored DB/CB over IB (RR = 1.12 (95% CI 1.02; 1.24)). There was no significant difference in stroke recurrence, morbidity, and mortality. After meta-regression analysis, year of publication and age were significant predictors of outcomes., Conclusions: IB, DB/CB are relatively effective and safe revascularization options for pediatric MMD/MMS. Low-quality GRADE evidence suggests that DB/CB was associated with better long-term angiographic revascularization outcomes when compared with IB, although this did not translate to long-term stroke and mortality benefits., (© 2023. The Author(s).)

Several case reports of patients with both moyamoya syndrome (MMS) and antiphospholipid syndrome (APS) have been published. However, the relationship between MMS and APS has not been clarified. We herein report a patient with MMS who had an ischemic stroke with rapid worsening of stenosis of the middle cerebral artery associated with APS. The patient was triple-positive for antiphospholipid antibodies. Patients with MMS complicated by APS should be closely followed up with vascular imaging.

Objectives: Moyamoya Angiopathy (MMA) is a chronic, progressive intracranial vasculopathy. Unlike Sickle-cell-disease, thalassemia-syndrome has rarely been described in association with MMA. This study was aimed to analyze the demographic, clinical, radiological features and long-term outcome (and possible factors influencing prognosis) of Moyamoya Syndrome (MMS) in the largest cohort of thalassemia-related-to-MMS., Materials & Methods: A single-centered, observational study with longitudinal follow-up was undertaken for 12 cases of MMS-related-to-thalassemia-syndrome amongst 160 consecutive MMA patients. The baseline demographic, clinical and radiological characteristics were noted; and were longitudinally followed-up to assess disease progression (clinical or radiological). Fifteen previously reported cases of thalassemia and MMA were retrieved by literature search in PubMed and Google-Scholar using keywords "Moyamoya" AND "thalassemia"., Results: The mean age at diagnosis of thalassemia-syndrome and diagnosis of MMS were 6.4 ± 6.55 years (mean ± SD) and 10.4 ± 8.68 years respectively in our 12 cases; 3.2 ± 2.25 years and 10.6 ± 6.1 years respectively in the previously reported 15 cases. Cerebral ischemic insult was the predominant brain lesion at base-line, noted in 91.7% of our cases and 80% of the previous cases. The mean hemoglobin, transfusion-dependency and previous splenectomy were seen in 8.7 ± 3.02 gm%, 33.3% and 8.3% of our cases respectively; 7.0 ± 3.04 gm%, 53.9% and 18.2% of previous cases. All our cases were medically managed for mean follow-up of 28.3 ± 13.9 months, none had evidence of angiographic progression, 1 of our 12 cases (8.3%) had new onset neuro-deficit and subsequent mortality, rest 11 of the 12 cases (91.7%) didn't have any appearance of silent cerebral infarction or evidence of progression of brain atrophy. Among the 15 previous cases, 5 out of 9 medically managed cases and 1 revascularized case described no further clinical recurrence., Conclusion: Thalassemia-related-MMS may not be so rare. Future development of consensus guidelines in diagnosing and managing cases of MMS-associated-with-thalassemia is of essence., Competing Interests: Declaration of competing interest The authors have stated explicitly that there are no conflicts of interest in connection with this article., (© 2022 Published by Elsevier Ltd on behalf of European Paediatric Neurology Society.)

Objectives: Stroke is the leading cause of death in patients with Sickle cell disease (SCD). Here, we detail the burden of Moyamoya syndrome (MMS) as a cause of stroke in patients with SCD., Materials and Methods: A review of SCD-related hospital discharges was conducted utilizing the National Inpatient Sample. Rates of stroke hospitalization, risk factors, procedures, and outcomes were compared between patients with SCD-MMS and SCD alone. Univariate analyses including T-test, Wilcoxon Rank-Sum test, Chi-square were performed to compare risk factors and outcomes. Multivariable regression was used to identify predictors of stroke unique to each population., Results: Stroke occurred in 9.8% of SCD-MMS hospitalizations versus 0.5% of those involving patients with SCD alone (OR = 20.71, p < 0.001). Patients with SCD-MMS developed stroke at younger ages and with fewer comorbidities compared to those with SCD alone. Stroke hospitalizations in SCD-MMS involved a greater number of procedures (90.5% vs. 79.3%, p = 0.007), but were more likely to result in favorable discharge (58.5% vs. 44.2%, p = 0.005). The presence of anemia during hospitalization was a significant risk factor for stroke in both cohorts. Long-term antiplatelet use was protective against stroke (OR = 0.42, p = 0.008) only in the SCD-MMS cohort., Conclusions: MMS confers a 20-fold increased risk of stroke among patients with SCD and appears to be an important cause of recurrent stroke in this population. Anemia is one of the most significant risk factors for stroke, while antiplatelet use appears to confer a protective benefit., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Background: Moyamoya syndrome (MMS) is a progressive cerebral arteriopathy with increased incidence in children with neurofibromatosis type 1 (NF1). Despite the potential for significant neurological morbidity including stroke, little is known about the natural history, and no guidelines exist for screening and management of NF1-associated MMS., Methods: We identified 152 literature cases of children aged ≤18 years with NF1-associated MMS. A meta-analysis was performed evaluating clinical and neuroimaging findings and patient outcomes. Data from 19 patients with NF1-associated MMS from our center treated from January 1995 to July 2020 were abstracted via chart review and similarly analyzed for clinical and neuroimaging features., Results: Meta-analysis of literature cases showed a median age of MMS diagnosis of 6 years (interquartile range 3 to 10.8 years). Optic pathway gliomas were more common in patients with MMS (42%) compared with historical prevalence. Stroke or transient ischemic attack (TIA) was present at diagnosis in 46%. TIA and stroke were more common in patients with bilateral versus unilateral MMS (62% vs 34%, P = 0.001) and in children aged <4 years versus those aged ≥4 years (61% vs 40%, P = 0.02). Compared with the literature cases, our cohort was more frequently asymptomatic (42% vs 25%) and less likely to present with TIA or stroke (32% vs 46%) at diagnosis., Conclusions: These data suggest there is an aggressive form of MMS in children with NF1 <4 years of age. Therefore, early screening should be considered to facilitate early detection and treatment of cerebral arteriopathy., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a congenital small vessel disease of the brain due to NOTCH3 gene mutations. Although adult-onset CADASIL is well documented, more cases are being described within the pediatric population. We describe three siblings with NOTCH3 mutations with various symptomatic presentations of early-onset CADASIL and one sibling with concurrent moyamoya syndrome., Methods: Review of electronic medical records of identified patients., Results: A 19-year-old male who has experienced behavioral dysregulation, hallucinations, and memory loss along with a hyperintense signal abnormality in his temporal lobe; his 15-year-old sister who has the mildest presentation in terms of normal imaging results but experiences severe headaches, anxiety, and depression; and the youngest sibling, a 13-year-old with first reported case of a NOTCH3 mutation associated with moyamoya syndrome and a TREX1 gene mutation of uncertain clinical significance. She had multiple strokes before age five years., Conclusion: Our set of siblings share many similarities with other reported pediatric cases of CADASIL, all with NOTCH3 gene mutations and with early-onset symptoms that range from abnormalities in the cognitive/behavioral/psychiatric field to neurological deficits, migraines, and strokes. Gene testing and imaging studies in symptomatic children with a family history suggestive of CADASIL might aid in early diagnosis, even though there is no effective therapy. We believe that the correlation of clinical presentations and gene mutations together with increased research into the molecular mechanisms underlying CADASIL (and related arteriopathies such as moyamoya syndrome) are critical to the eventual development of targeted therapies., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Objective: To evaluate the preoperative clinical and magnetic resonance imaging and angiography (MRI-MRA) characteristics in pediatric moyamoya patients., Methods: Analysis included 100 children with moyamoya angiopathy referred to our moyamoya center for preoperative evaluation. Clinical symptoms, neurological status using Pediatric Stroke Outcome Measurement (PSOM) and degree of disability on modified Rankin scale score (mRS) were evaluated. MRI-MRA evaluation included the assessment of ischemic lesions and involvement of posterior circulation. Data were analyzed for moyamoya disease (MMD), moyamoya syndrome (MMS) and age at disease onset., Results: Stroke was a common presentation in both MMD and MMS patients. TIAs and headaches/migraine were more frequent in MMD. There was no evidence of a difference in stroke burden on MRI as well as in PCA involvement between the two subgroups. Children <2 years had higher odds of having a stroke (OR 15.5, 95% CI 3.8-62.4, p < 0.001), recurrent stroke (OR 11.8, 95%CI 2.9-46.7, p < 0.001) and unfavorable mRS (≥2) (OR 4.2, 95% CI 1.3-13.7, p = 0.01) when compared to those >5 years of age. There was some evidence of association of PCA involvement with recurrent strokes (OR 3.1, CI 1.0-9.6, p = 0.05), a poor PSOM (OR 3.0, 95% CI 1.1-8.2, p = 0.04) and mRS (OR 3.1, 95% CI 1.2-8.3, p = 0.02)., Conclusion: Stroke seems to be a common presentation in both MMD and MMS patients. Early age at symptom onset and involvement of posterior circulation seem to be important risk factors for a high stroke burden and an unfavorable PSOM and mRS., Competing Interests: Declaration of competing interest None., (Copyright © 2021 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

Sickle cell disease is the most common hereditary hemoglobinopathy, which results in abnormally shaped and rigid red blood cells. These sickle-shaped red blood cells cause vaso-occlusion and ischemic phenomena that can affect any organ in the body. As a common cause of disability, the neurological manifestations of sickle cell disease are particularly important. Neuroimaging has a crucial role in the diagnosis, management, and prevention of the complications of sickle cell disease. These complications can affect the brain parenchyma, vasculature, and skull and can be ascribed directly or indirectly to a vasculopathy of small and large vessels. Vaso-occlusion can cause ischemic stroke. Ischemic damage in the absence of an acute neurological deficit, and therefore only apparent on neuroimaging, is termed silent cerebral ischemia. Weakening of the arterial walls can cause aneurysms. In its most severe form, a vasculopathy of the terminal internal carotid arteries can progress to moyamoya syndrome, characterized by steno-occlusive disease and the formation of friable collateral arteries. Rupture of aneurysms or friable collateral arteries is a potential cause of intracranial hemorrhage. The skull and vertebrae may be affected by extra-medullary hematopoiesis, due to severe anemia, or iron deposition, due to chronic red blood cell transfusion. Impaired blood supply to bone is associated with osteomyelitis and osteonecrosis. Fat embolization syndrome is a rare complication of osteonecrosis, which may cause devastating neurological impairment. Awareness and early recognition of the diverse manifestations of sickle cell disease on neuroimaging is crucial to ensure optimal treatment in a complex patient cohort., (© 2020 The Authors. Journal of Neuroimaging published by Wiley Periodicals LLC on behalf of American Society of Neuroimaging.)

Background: Moyamoya syndrome, a progressive, idiopathic stenosis of the internal carotid arteries, results in increased risk for both ischemic and hemorrhagic strokes. Revascularization procedures have been shown in small studies to be both safe and efficacious for these patients; however, randomized controlled trials are lacking. The goal of this systematic review is to organize the literature evaluating surgical intervention versus conservative medical management., Methods: A systematic review was performed including studies with 3 or more participants with moyamoya syndrome in the setting of sickle cell disease and a measured outcome after either medical or surgical intervention. Relevant studies were identified using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses criteria and a set of predetermined key words., Results: Sixty-one articles were identified with 6 articles ultimately included in this review (N = 122). Of the patients, 73 (59.8%) were revascularized surgically (all indirect procedures), whereas 49 (40.2%) remained on chronic transfusion therapy. Of the patients that underwent indirect revascularization surgery, a total of 1 perioperative (1.4%) and 4 postoperative strokes (5.5%) were reported over 44 months (1 stroke per 53.3 patient-years). In comparison, an average of 46.5% of patients who were receiving chronic transfusions had major events (stroke or transient ischemic attack) while undergoing therapy (1 stroke per 13.65 patient-years, P = 0.00215)., Conclusions: We present a large systematic review of the literature regarding outcomes of surgical and medical management for patients with moyamoya syndrome and sickle cell disease. The findings redemonstrate the efficacy and safety of surgical revascularization, and advocate for earlier discussion around surgical intervention., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Background and Purpose: Cerebral microbleeds (CMB) are reported to be frequent in moyamoya disease (MMD) and moyamoya syndrome (MMS) in the Asian population. It is associated with an increased risk of intracerebral hemorrhage. The significance of CMB in MMD/MMS in non-Asian populations has not been well established. Our study aimed to investigate the prevalence of CMB in MMD/MMS in a moymoya cohort with a majority of non-Asians and to identify risk factors for developing a CMB and its predictive value for subsequent vascular events., Methods: The moyamoya database was compiled by screening for MMD/MMS among patients admitted to the Zale-Lipshy University Hospital at the University of Texas Southwestern Medical Center. We identified and analyzed data of 67 patients with MMD or MMS. Patients were characterized as CMB+ or CMB- based on MRI findings. In CMB+ patients, the total number and location of CMB were identified. Univariate and multivariate logistic regression were used to identify risk factors for developing CMB and whether CMB are associated with the development of subsequent vascular events., Results: Out of a total of 67 patients, 11 (16%) had CMB. Males had significantly higher odds of having CMB as compared to females (OR 1.76; 95% CI 1.40-24.3, p = 0.021). The incidence of CMB was also associated with age at diagnosis (mean age of CMB+ patients vs. CMB- patients: 44 vs. 34 years, respectively, p = 0.024), smoking (p = 0.006), and hemorrhagic stroke at presentation (p = 0.034). Logistic regression with multivariate analysis found that gender and age at diagnosis remained statistically significant. New ischemic events occurred in 2 (20%) out of 10 CMB+ patients and 13 (23%) out of 55 CMB- patients, respectively (p = 0.79). While 2 (3%) CMB- patients had a new cerebral hemorrhage during follow-up, none of the CMB+ patients did., Conclusions: CMB are less prevalent in MMD/MMS in the USA than in Asia. An older age at diagnosis and male gender were associated with CMB. The presence of CMB was not associated with an increased risk of a subsequent ischemic or hemorrhagic stroke., (© 2019 The Author(s) Published by S. Karger AG, Basel.)

OBJECTIVE Sickle cell disease (SCD) in combination with moyamoya syndrome (MMS) represents a rare complication of SCD, with potentially devastating neurological outcomes. The effectiveness of surgical revascularization in this patient population is currently unclear. The authors' aim was to determine the effectiveness of surgical intervention in their series of SCD-MMS patients by comparing stroke recurrence in those undergoing revascularization and those undergoing conservative transfusion therapy. METHODS The authors performed a retrospective chart review of patients with MMS who were seen at the Johns Hopkins Medical Institution between 1990 and 2013. Pediatric patients (age < 18 years) with confirmed diagnoses of SCD and MMS were included. Intracranial stroke occurrence during the follow-up period was compared between surgically and conservatively managed patients. RESULTS A total of 15 pediatric SCD-MMS patients (28 affected hemispheres) were included in this study, and all were African American. Seven patients (12 hemispheres) were treated with indirect surgical revascularization. The average age at MMS diagnosis was 9.0 ± 4.0 years, and 9 patients (60.0%) were female. Fourteen patients (93.3%) had strokes before diagnosis of MMS, with an average age at first stroke of 6.6 ± 3.9 years. During an average follow-up period of 11.6 years, 4 patients in the conservative treatment group experienced strokes in 5 hemispheres, whereas no patient undergoing the revascularization procedure had any strokes at follow-up (p = 0.029). Three patients experienced immediate postoperative transient ischemic attacks, but all recovered without subsequent strokes. CONCLUSIONS Indirect revascularization is suggested as a safe and effective alternative to the best medical therapy alone in patients with SCD-MMS. High-risk patients managed on a regimen of chronic transfusion should be considered for indirect revascularization to maximize the effect of stroke prevention.

Background: Moyamoya syndrome is characterised by an occlusion of the carotid terminations with the development of collateral vessels. Our objective is to describe a series of infants presenting early-onset moyamoya-like syndrome, which may constitute a distinct entity., Methods: From a cohort of children with rare cerebral vascular pathologies, we studied eight infants (28 days-1 year) with early-onset moyamoya-like syndrome demonstrated by angiography. We retrospectively analysed the patterns on MRI and MRA, as well as all other available data., Results: Median age at diagnosis was 7 months (IQR: 6-8) with arterial ischaemic stroke in the middle cerebral artery territory. All of the children experienced severe stroke recurrence within a median time of 11 months (IQR: 10-12), and all showed extraneurological symptoms. The anterior cerebral circulation was involved in all cases and the posterior circulation was involved in six. Two children died and all of the other children suffered permanent neurological deficits., Conclusions: The presence of extraneurological signs in cases of early-onset moyamoya syndrome is suggestive of a newly described systemic vasculopathy with predominantly cerebrovascular expression. Given its rapid progression marked by severe recurrent strokes and poor clinical outcome, early diagnosis could help in the decision to institute aggressive therapy.

OBJECT Pediatric patients with sickle cell disease (SCD) and moyamoya syndrome (MMS) are at significant risk for cerebrovascular accidents despite chronic transfusion therapy. Encephaloduroarteriosynangiosis (EDAS) and encephalomyoarteriosynangiosis (EMAS) are additional therapeutic options for these patients. To date, the incidence of complications after and efficacy of EDAS and EMAS in stroke prevention in this population have been described in several institutional case series reports, but no randomized prospective trials have been reported. METHODS The authors retrospectively reviewed the cases of all pediatric patients at the University of Alabama at Birmingham with a history of homozygous hemoglobin S (HbS) and sickle cell/β-thalassemia (SB0 thalassemia) and on chronic transfusion therapy, including 14 patients with MMS who underwent EDAS or EMAS. RESULTS Sixty-two patients with SCD and on chronic transfusion therapy were identified. After exclusion of patients on chronic transfusion therapy for indications other than stroke prevention, 48 patients (77.4%) remained. Of those patients, 14 (29.1%) underwent EDAS or EMAS. Nine (18.8%) and 25 (52.1%) patients were on chronic transfusion therapy for primary or secondary stroke prevention, respectively, but did not undergo EDAS or EMAS. The 14 patients with SCD and radiological evidence of MMS and on chronic transfusion therapy for primary or secondary stroke prevention underwent 21 EDAS or EMAS procedures for progressive vascular disease (92.9% of patients), stroke (71.4%), and/or seizure (7.1%). The mean (± SD) time from initiation of chronic transfusion therapy to EDAS or EMAS was 76.8 ± 58.8 months. Complications included 1 perioperative stroke, 1 symptomatic subdural hygroma, 1 postoperative seizure, and 1 case of intraoperative cerebral edema that required subsequent cranioplasty. Before EDAS or EMAS, the stroke rate was calculated to be 1 stroke per 7.8 patient-years. One additional stroke occurred during the follow-up period (mean follow-up time 33.7 ± 19.6 months), resulting in a post-EDAS/EMAS stroke rate of 1 stroke per 39.3 patient-years, a 5-fold reduction compared with that in the pre-EDAS/EMAS period. The patients' mean pre-EDAS/EMAS HbS level of 29.5% ± 6.4% was comparable to the mean post-EDAS/EMAS HbS level of 25.5% ± 6.1% (p = 0.104). CONCLUSIONS The results of this retrospective case series in a large cohort of pediatric patients with SCD and MMS suggest that EDAS/EMAS provides a stroke-prevention benefit with an acceptably low morbidity rate. Given the combined experience with EDAS and EMAS for this indication at this and other institutions, a prospective clinical trial to assess their efficacy compared with that of chronic transfusion therapy alone is warranted.

Moyamoya disease is a rare cerebrovascular anomaly involving the intracranial carotid arteries that can present clinically with either ischemic or hemorrhagic disease. Moyamoya syndrome, indistinguishable from moyamoya disease at presentation, is associated with multiple clinical conditions including neurofibromatosis type 1, autoimmune disease, prior radiation therapy, Down syndrome, and Turner syndrome. We present the first reported case of an adult patient with previously unrecognized mosaic Turner syndrome with acute subarachnoid and intracerebral hemorrhage as the initial manifestation of moyamoya syndrome. A 52-year-old woman was admitted with a subarachnoid hemorrhage with associated flame-shaped intracerebral hemorrhage in the left frontal lobe. Physical examination revealed short stature, pectus excavatum, small fingers, micrognathia, and mild facial dysmorphism. Cerebral angiography showed features consistent with bilateral moyamoya disease, aberrant intrathoracic vessels, and an unruptured 4-mm right superior hypophyseal aneurysm. Genetic analysis confirmed a diagnosis of mosaic Turner syndrome. Our case report is the first documented presentation of adult moyamoya syndrome with subarachnoid and intracerebral hemorrhage as the initial presentation of mosaic Turner syndrome. It illustrates the utility of genetic evaluation in patients with cerebrovascular disease and dysmorphism., (Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.)

Purpose: Sickle-cell disease-associated moyamoya syndrome (SCD-MMS) carries a high risk for recurrent strokes and cerebrovascular morbidity in children. However, few data are available about complications that occur in children hospitalized with SCD-MMS. The purpose of this analysis was to determine the risk factors for in-hospital complications in pediatric SCD-MMS admissions, and thus aid physicians in optimizing future treatment plans. Methods: A national database of pediatric hospital admissions was examined across the years 2003–2019. ICD-9 and ICD-10 diagnosis codes were analyzed to identify discharges with a primary diagnosis of SCD-MMS and identify in-hospital complications, defined as complication-associated diagnostic codes logged during the same admission. Patient demographics, comorbidities, and hospital characteristics were examined using univariate and multivariate logistic regression analyses to determine associations with in-hospital complications. Results: In total, 274 admissions with a primary diagnosis of SCD-MMS were identified. During 64 (23.4%) admissions, transfusion therapy was given, and in 86 admissions (31.4%), surgical revascularization was performed. In 10 admissions (3.6%), a total of 11 in-hospital complications were identified. After multivariate regression, both comorbid chronic lung disease (adjusted OR 5.3 [1.1, 26.9], P = 0.04) and surgical revascularization (adjusted OR 10.2 [2.0, 52.4], P = 0.006) were associated with development of complications. Conclusions: In this nationwide database of pediatric SCD-MMS hospitalizations, comorbid chronic lung disease and surgical revascularization were associated with development of in-hospital complications. Patients with comorbid chronic lung disease or who are admitted for revascularization may warrant closer monitoring and greater medical optimization during the hospitalization. [ABSTRACT FROM AUTHOR]

Simple Summary: Neurofibromatosis type 1 is a common autosomal dominant inherited condition, with variable phenotype among affected individuals. Abnormalities of the cerebral vasculature are an acknowledged but poorly understood complication, leading to high morbidity and mortality for individuals with neurofibromatosis type 1. The current review discusses the different types of cerebral vasculopathy, the clinical presentation and diagnosis, followed by proposed pathogenesis. Medical and surgical management options are presented, with a goal to prevent lasting neurologic injury. Cerebrovascular abnormalities are a severe and often underrecognized complication of childhood neurofibromatosis type 1 (NF1). There are no prospective studies of cerebral vasculopathy in NF1; thus, the estimated frequency of vasculopathy varies between studies. The data is difficult to interpret due to the retrospective data collection and variability in whether imaging is done based on screening/surveillance or due to acute neurologic symptoms. The prevalent NF1-associated cerebral vasculopathy is moyamoya syndrome (MMS). Vascular changes can present without symptoms or with acute TIA or stroke-like symptoms or a range of progressive neurologic deficits. Advanced imaging may enhance sensitivity of neuroimaging in children. Medical and/or surgical interventions may prevent short- and long-term complications. Challenges for establishment of a screening protocol for cerebral vasculopathy in children with NF1 include the relatively large number of patients with NF1, the potential need for sedation to achieve quality imaging and the broad age range at time of detection for cerebral vascular changes. The goal of this review is to present the epidemiology, clinical presentation, imaging features and medical/surgical management of cerebral arteriopathies in children with NF1. [ABSTRACT FROM AUTHOR]

Jennifer Light,&ast; Maria Boucher,&ast; Jacquelyn Baskin-Miller,&ast; Mike Winstead&ast; Pediatric Hematology-Oncology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA&ast;These authors contributed equally to this workCorrespondence: Mike Winstead, Division of Pediatric Hematology-Oncology, University of North Carolina at Chapel Hill, 101 Manning Drive, Chapel Hill, NC, USA, Tel +1 919-966-1178, Fax +1 919-966-7629, Email mwins@email.unc.eduAbstract: The importance of protecting brain function for people with sickle cell disease (SCD) cannot be overstated. SCD is associated with multiple cerebrovascular complications that threaten neurocognitive function and life. Without screening and preventive management, 11% of children at 24% of adults with SCD have ischemic or hemorrhagic strokes. Stroke screening in children with SCD is well-established using transcranial Doppler ultrasound (TCD). TCD velocities above 200 cm/s significantly increase the risk of stroke, which can be prevented using chronic red blood cell (RBC) transfusion. RBC transfusion is also the cornerstone of acute stroke management and secondary stroke prevention. Chronic transfusion requires long-term management of complications like iron overload. Hydroxyurea can replace chronic transfusions for primary stroke prevention in a select group of patients or in populations where chronic transfusions are not feasible. Silent cerebral infarction (SCI) is even more common than stroke, affecting 39% of children and more than 50% of adults with SCD; management of SCI is individualized and includes careful neurocognitive evaluation. Hematopoietic stem cell transplant prevents cerebrovascular complications, despite the short- and long-term risks. Newer disease-modifying agents like voxelotor and crizanlizumab, as well as gene therapy, may treat cerebrovascular complications, but these approaches are investigational.Keywords: stroke, silent cerebral infarction, moyamoya syndrome, transfusion, stem cell transplantation

Moyamoya disease is an unusual occlusive cerebrovascular condition commonly seen in children, marked by stenosis of the internal carotid artery and circle of Willis, causing, cerebral ischemia. Moyamoya syndrome is a Moyamoya-like arteriopathy with risk factors including autoimmune disorders, thyroid disease, sickle cell disease, or Down syndrome. Trisomy 21 is a genetic disorder consistent with specific physical and behavioral characteristics, with intellectual impairment. We describe a rare case of Moyamoya syndrome manifesting as ischemic stroke in an adult with Down syndrome

Severe hemophilia A and moyamoya (SHAM) syndrome is a rare condition that combines hemophilia A and moyamoya disease (MMD) due to an Xq28 microdeletion encompassing the F8 and BRCC3 genes. Here, we report the case of a 19-year-old male patient with hemophilia A and hypogonadism that presented with right-sided hemiparesis and dysarthria. Brain magnetic resonance imaging and angiography revealed an ischemic lesion in the left lobe and stenosis of both middle cerebral arteries with a concomitant thick vascular network, compatible with moyamoya disease. Next-generation sequence revealed a large Xq28 deletion compatible with SHAM syndrome. The patient was treated with acetylsalicylic acid and neurosurgical intervention was scheduled. Our patient is one of the few cases reported in the literature with Xq28 microdeletion encompassing the F8, hemophilia A causative gene, and BRCC3, responsible for MMD, presenting with a compound phenotype that included neurological manifestations and hypogonadism. In conclusion, diagnosis of MMD should be considered in any male, young patient with symptoms of ischemic stroke with no obvious explanation, and especially in patients with known hemophilia, since a relationship between the two conditions has been documented.

Stroke in infancy is a rare phenomenon but can lead to significant long-term disability. We present the story of a 6-month-old Old Order Amish infant with underlying Williams syndrome, a rare neurodevelopmental disorder caused by a microdeletion, encompassing the elastin gene that produces abnormalities in elastic fibers of the lungs and vessels. This infant presented with lethargy, irritability, and a new-onset generalized tonic-clonic seizure. Brain magnetic resonance imaging (MRI) was consistent with ischemic stroke in the supratentorial regions. MR angiogram demonstrated bilateral narrowing of the internal carotid arteries with "ivy sign," suggestive of Moyamoya. Moyamoya disease/syndrome is a cerebrovascular condition that is associated with progressive stenosis of the intracranial vessels and can cause ischemic stroke in young children. Targeted mutation analysis revealed a homozygous c.1411–2A > G splice site variant in the SAMHD1 gene, consistent with a diagnosis of Aicardi–Goutières syndrome type 5 (AGS5), an autosomal recessive condition with multisystem involvement. In our unique case of infantile stroke with Moyamoya syndrome and dual diagnosis of Williams syndrome and AGS5, both diagnoses likely contributed to the cerebrovascular pathology. This case report highlights the importance of suspecting and testing for multiple genetic abnormalities in children presenting with Moyamoya-related stroke. [ABSTRACT FROM AUTHOR]

Severe hemophilia A and moyamoya (SHAM) syndrome is a rare condition that combines hemophilia A and moyamoya disease (MMD) due to an Xq28 microdeletion encompassing the F8 and BRCC3 genes. Here, we report the case of a 19-year-old male patient with hemophilia A and hypogonadism that presented with right-sided hemiparesis and dysarthria. Brain magnetic resonance imaging and angiography revealed an ischemic lesion in the left lobe and stenosis of both middle cerebral arteries with a concomitant thick vascular network, compatible with moyamoya disease. Next-generation sequence revealed a large Xq28 deletion compatible with SHAM syndrome. The patient was treated with acetylsalicylic acid and neurosurgical intervention was scheduled. Our patient is one of the few cases reported in the literature with Xq28 microdeletion encompassing the F8, hemophilia A causative gene, and BRCC3, responsible for MMD, presenting with a compound phenotype that included neurological manifestations and hypogonadism. In conclusion, diagnosis of MMD should be considered in any male, young patient with symptoms of ischemic stroke with no obvious explanation, and especially in patients with known hemophilia, since a relationship between the two conditions has been documented. [ABSTRACT FROM AUTHOR]

Introduction: Moyamoya angiopathy (MMA) is a chronic, progressive intracranial vasculopathy with variation in prevalence and clinical manifestations across different populations. This study was aimed to estimate the frequency of MMA as an etiology of stroke and its epidemiological features in the largest cohort of MMA patients in India. Method: A single-centered cross-sectional observational study over a period of 5 years (2016–2021) was undertaken among consecutive stroke and transient ischemic attack (TIA) patients to look for the presence of MMA angiographically. Each patient with angiographically proven MMA was further evaluated for demographic, clinical, and radiological characteristics. Results: Among 10,250 consecutive stroke and TIA patients (ischemic = 78%, hemorrhagic = 22%), frequency of MMA was 1.56% (n = 160); 15.3% among children. Female preponderance (Male:Female = 1:1.4) was noted among 160 MMA patients, with bimodal age distribution, first peak at 3–8 years, and a shorter second peak at 41–47 years. Childhood-onset MMA was seen in 75 (46.9%) with commonest initial neurological symptom of fixed-motor-weakness (44.0%), followed by TIA (26.7%); while 85 (53.1%) had adult-onset MMA with fixed-motor-weakness (50.6%) followed by headache (24.7%) as the predominant initial neurological symptom; seizure significantly higher in children (p < 0.001) and headache in adults (p = 0.012). Transient and fixed neurological manifestations constituted 87.5 and 69.4% respectively, of symptoms throughout the disease course. Cerebral infarction (45.0%) and TIA (21.9%) were the commonest types of MMA. On brain imaging, infarction was noted in 80.6%, hemorrhage in 11.3%, significantly higher among adults (p < 0.001). Cortical infarct and Gyral pattern were commoner in children (p = 0.004), subcortical infarcts in adults (p = 0.018). Frequent Suzuki staging observed was stage 4 (31.3%), followed by stage 3 (30.0%). Involvement of posterior circulation was detected in 55.6%, brain atrophy at the time of diagnosis was seen in 65.0%. Conclusion: MMA is an important etiological consideration in patients with stroke, especially in children. It can present with a myriad of transient neurological symptoms, frequently overlooked, leading to delayed diagnosis, and contributing to socio-economic burden. Indian MMA showed aberrations in its gender predisposition, age distribution, frequency of familial cases, disease manifestation, and type of stroke, in comparison to its Japanese and Caucasian counterparts pointing to the inter- and intra-continent differences of MMA phenotype. Future development of the Indian MMA national registry is of essence. [ABSTRACT FROM AUTHOR]

IntroductionMoyamoya angiopathy (MMA) is a chronic, progressive intracranial vasculopathy with variation in prevalence and clinical manifestations across different populations. This study was aimed to estimate the frequency of MMA as an etiology of stroke and its epidemiological features in the largest cohort of MMA patients in India.MethodA single-centered cross-sectional observational study over a period of 5 years (2016–2021) was undertaken among consecutive stroke and transient ischemic attack (TIA) patients to look for the presence of MMA angiographically. Each patient with angiographically proven MMA was further evaluated for demographic, clinical, and radiological characteristics.ResultsAmong 10,250 consecutive stroke and TIA patients (ischemic = 78%, hemorrhagic = 22%), frequency of MMA was 1.56% (n = 160); 15.3% among children. Female preponderance (Male:Female = 1:1.4) was noted among 160 MMA patients, with bimodal age distribution, first peak at 3–8 years, and a shorter second peak at 41–47 years. Childhood-onset MMA was seen in 75 (46.9%) with commonest initial neurological symptom of fixed-motor-weakness (44.0%), followed by TIA (26.7%); while 85 (53.1%) had adult-onset MMA with fixed-motor-weakness (50.6%) followed by headache (24.7%) as the predominant initial neurological symptom; seizure significantly higher in children (p < 0.001) and headache in adults (p = 0.012). Transient and fixed neurological manifestations constituted 87.5 and 69.4% respectively, of symptoms throughout the disease course. Cerebral infarction (45.0%) and TIA (21.9%) were the commonest types of MMA. On brain imaging, infarction was noted in 80.6%, hemorrhage in 11.3%, significantly higher among adults (p < 0.001). Cortical infarct and Gyral pattern were commoner in children (p = 0.004), subcortical infarcts in adults (p = 0.018). Frequent Suzuki staging observed was stage 4 (31.3%), followed by stage 3 (30.0%). Involvement of posterior circulation was detected in 55.6%, brain atrophy at the time of diagnosis was seen in 65.0%.ConclusionMMA is an important etiological consideration in patients with stroke, especially in children. It can present with a myriad of transient neurological symptoms, frequently overlooked, leading to delayed diagnosis, and contributing to socio-economic burden. Indian MMA showed aberrations in its gender predisposition, age distribution, frequency of familial cases, disease manifestation, and type of stroke, in comparison to its Japanese and Caucasian counterparts pointing to the inter- and intra-continent differences of MMA phenotype. Future development of the Indian MMA national registry is of essence.

Background and Purpose: Cerebral microbleeds (CMB) are reported to be frequent in moyamoya disease (MMD) and moyamoya syndrome (MMS) in the Asian population. It is associated with an increased risk of intracerebral hemorrhage. The significance of CMB in MMD/MMS in non-Asian populations has not been well established. Our study aimed to investigate the prevalence of CMB in MMD/MMS in a moymoya cohort with a majority of non-Asians and to identify risk factors for developing a CMB and its predictive value for subsequent vascular events. Methods: The moyamoya database was compiled by screening for MMD/MMS among patients admitted to the Zale-Lipshy University Hospital at the University of Texas Southwestern Medical Center. We identified and analyzed data of 67 patients with MMD or MMS. Patients were characterized as CMB+ or CMB– based on MRI findings. In CMB+ patients, the total number and location of CMB were identified. Univariate and multivariate logistic regression were used to identify risk factors for developing CMB and whether CMB are associated with the development of subsequent vascular events. Results: Out of a total of 67 patients, 11 (16%) had CMB. Males had significantly higher odds of having CMB as compared to females (OR 1.76; 95% CI 1.40–24.3, p = 0.021). The incidence of CMB was also associated with age at diagnosis (mean age of CMB+ patients vs. CMB– patients: 44 vs. 34 years, respectively, p = 0.024), smoking (p = 0.006), and hemorrhagic stroke at presentation (p = 0.034). Logistic regression with multivariate analysis found that gender and age at diagnosis remained statistically significant. New ischemic events occurred in 2 (20%) out of 10 CMB+ patients and 13 (23%) out of 55 CMB– patients, respectively (p = 0.79). While 2 (3%) CMB– patients had a new cerebral hemorrhage during follow-up, none of the CMB+ patients did. Conclusions: CMB are less prevalent in MMD/MMS in the USA than in Asia. An older age at diagnosis and male gender were associated with CMB. The presence of CMB was not associated with an increased risk of a subsequent ischemic or hemorrhagic stroke.

Objective: Moyamoya disease (MMD) is a progressive steno-occlusive cerebrovascular phenomenon with unknown pathogenesis. Considering the abundance of articles addressing Moyamoya disease, a detailed analysis concerning the publication trends is of paramount importance. The aim of the study is to report the current knowledge of the top-100 most cited articles on Moyamoya disease in the literature. Methods: A non-time restricted keyword-based search was performed in June 2020 using the Scopus database. The search keywords included the following: "Moyamoya", "Moyamoya disease", and "Moyamoya syndrome". The search result was used to rank the articles based on their citation count. The top-100 most-cited articles were obtained and classified into seven categories. Results: A total of 3,543 articles on Moyamoya disease were published between 1955 and 2020. The Top-100 articles were published between 1977 and 2016 with a total of 16,119 citations, per year, and 7.23% rate of self-citation. The 1990s was the most productive decade (N=42). The most contributing country to the list was Japan (N=60). Stroke was the most active journal (N=23). Houkin, K., a Japanese neurosurgeon, was the most prolific author (N=15). Conclusions: Moyamoya disease has been extensively investigated in the literature throughout the years. The majority of articles published in the literature were addressing the surgical management and clinical outcome. Authors from neurosurgical backgrounds were the most active contributors to the field of Moyamoya disease. [ABSTRACT FROM AUTHOR]

Postinfectious Moyamoya syndrome (MMS) is a rare vasculopathy that can follow meningitis. Only 9 cases of MMS after meningitis have been reported in the literature. We present a unique case of MMS after meningitis caused by Aspergillus fumigatus and Escherichia coli and review all cases of MMS postmeningitis in the literature. A 41-year-old man was admitted to our emergency department for sudden hypoesthesia in the left arm and an intense headache not responsive to drugs. Computed tomography scan and magnetic resonance imaging showed acute ischemic lesions in the right centrum semiovale associated with bilateral chronic watershed cerebral ischemic lesions. The cerebral digital subtraction angiography documented a typical Moyamoya pattern. In anamnesis, the patient suffered from meningitis caused by A. fumigatus and E. coli infection after neurosurgery for subependymoma of the fourth ventricle 2 years before. Laboratory tests, clinical investigation, and imaging ruled out any other cause of vasculopathy and led to the final diagnosis of postinfectious MMS. The patient started medical therapy with oral acetyl salicylic acid, verapamil, and prednisone while surgical approach was excluded in the first instance. Physicians should be aware of an uncommon but severe complication of meningitis such as MMS, even several years after the infection. Neuroimaging is essential for the diagnosis and to exclude other causes of neurologic symptoms in these patients. [ABSTRACT FROM AUTHOR]

Background: Moyamoya Disease (MMD) and moyamoya Syndrome (MMS) have been reported to be associated with pro-thrombotic states in some patients. To date, however, such reports have been limited to case reports or small case series. We sought to determine the prevalence of pro-thrombotic states among a large cohort of both MMD and MMS patients. Methods: We retrospectively reviewed the medical records of all adult patients who were diagnosed with MMD or MMS from our institution. In addition to basic demographic and clinical data, the presence of certain pro-thrombotic conditions was noted. The presence of such conditions was determined based on review of clinical diagnoses and laboratory reports. The length of follow-up and the presence of interval ischemic events were obtained. Results: Out of a total of 180 patients diagnosed with MMD or MMS, 33 were found to have a concomitant pro-thrombotic condition (18.3%). Of 147 patients with MMD, 23 were found to have a pro-thrombotic condition (15.6%). There were 10 out of 33 total patients (30.3%) in the MMS cohort that had a concomitant pro-thrombotic condition. There were no differences in specific pro-thrombotic conditions between MMD and MMS cohorts. There were no differences in future ischemic events between moyamoya patients with pro-thrombotic tendencies compared to those without (13.3% versus 23.7%, respectively, P = 0.32), and this was also true for patients who underwent revascularization procedures (22.6% versus 29.4%, P = 0.76). There was also no difference in prevalence of revascularization graft occlusion between moyamoya patients with pro-thrombotic tendencies and those without at follow-up (1.2% versus 5.9%, P = 0.31). Conclusions: It is likely that both MMD and MMS are associated with or predispose to pro-thrombotic conditions in adult patients, although the clinical and surgical significance is uncertain. Further study is needed in order to further elucidate and characterize this potential association. [ABSTRACT FROM AUTHOR]

Moyamoya syndrome (MMS) in patients with sickle cell disease (SCD) accentuates the risk of recurrent strokes. Chronic transfusion therapy (CTT) is an excellent option for preventing recurrent strokes in most patients with SCD. In SCD with MMS, CTT may fail as a long-term solution. Cerebral revascularization, in the form of extracranial-intracranial bypass, has been shown to prevent recurrent strokes in this cohort. We review the evolution of this paradigm shift in the management of SCD-associated MMS. A systematic review, adhering to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses protocol, was conducted. Our primary objectives were 1) to study the evolution of cerebral revascularization techniques in management of MMS in SCD and 2) to analyze the impact of neurosurgical intervention in this high-risk population. Four patients with SCD-associated MMS, who underwent indirect cerebral revascularization at our institute were retrospectively reviewed. A summary of 13 articles chronicling the advent and subsequent evolution of cerebral revascularization as a viable treatment strategy for stroke prevention in SCD-associated MMS is presented. The literature review suggests that early detection and surgical intervention (in addition to CTT) could significantly reduce stroke recurrence and improve neurocognitive outcome. Our short series of 4 patients also had a good outcome and no recurrence of strokes postoperatively. The literature emphasizes the use of a traditional standardized protocol for early identification (transcranial Dopplers, selective magnetic resonance angiography, and CTT). Early treatment and screening that involves early magnetic resonance angiography and referral to neurosurgery for revascularization may be considered for this high-risk population. [ABSTRACT FROM AUTHOR]

Objective We report a 7 year-old boy, known case of sickle cell disease, who underwent laparoscopic cholecystectomy for gallstones. He sustained brain insult due to undiagnosed MoyaMoya syndrome. The purpose of this report is to familiarize the healthcare community with similar events and discuss possible plans/recommendations for future similar cases. Method Case report and review of the English-language literatures (using PubMed, Ovid, and Proquest databases). Results Case of complicated MoyaMoya syndrome sustained brain insult postoperatively in a 7 year-old boy, with sickle cell disease and gallstones. Conclusion Early onset of MoyaMoya syndrome related stroke postoperatively after laparoscopic cholecystectomy is difficult to be assessed immediately. Acute stroke is an infrequent disease of pediatric age group patients. MoyaMoya is a rare cerebrovascular disease of unknown etiology. Our patient is 7 year-old male child who presented immediately postoperatively with abnormal movement of right upper and lower limbs and right upper limb weakness, and no history of MoyaMoya syndrome, which is rare, but important cause of stroke in children. Cerebral revascularization surgery leads to favorable outcome. The present case highlights the importance of considering "MoyaMoya syndrome" in sickle cell disease patients who are going for surgery irrespective of their age group. [ABSTRACT FROM AUTHOR]

Background: Moyamoya vasculopathy is a chronic progressive vaso-occlusive disease affecting the distal intracranial carotid arteries and their proximal branches. It is an important cause of recurrent strokes in children. Surgical revascularization procedures are now considered as the treatment option for moyamoya vasculopathy. The data from Indian children with moyamoya vasculopathy are limited to a very few studies. Study Design: We analyzed the records of children with moyamoya vasculopathy treated at our tertiary care center from 2000 to 2014. Our study population included all patients (aged 0--18 years) with moyamoya disease/ syndrome (MMD/MMS). The demographic data, clinical characteristics, imaging, treatment details, and surgical procedures performed were reviewed. Results: A total of 41 patients (females-19, males-22) were identified. Thirty-three (80.48%) had MMD and eight (19.5%) had MMS. The mean age (±standard deviation) at presentation was 6.26 ± 3.79 years (range: 6 months-14 years). Majority had ischemic events at onset; none had hemorrhagic manifestations. Twenty-eight (68.29%) patients underwent surgery (a total of 33 surgical procedures, bilateral in five and unilateral in 23) and 13 (31.7%) were managed conservatively. The median duration of follow-up was 2.2 ± 1.85 years (range: 4 months-7 years). Two/thirteen patients (15%), who were managed conservatively, had recurrent strokes as against none (0/28) in the operated patients. No mortality was observed in our cohort. Conclusion: We agree with previous studies that Indian patients with moyamoya vasculopathy differ from their Asian and European counterparts. The availability of expertise in revascularization surgeries in various centers should prompt surgery as an efficient and safe treatment option. [ABSTRACT FROM AUTHOR]

A 6 year-old girl with Down's syndrome presented to the paedriatic emergency department with sudden onset weakness of the left half of body. Evaluation leads to the eventual diagnosis of stroke secondary to Moyamoya syndrome. This is an unusual presentation of stroke and highlights the need to expand the differential diagnosis to include rare diseases in children with predisposing conditions. This case highlights the relationship between trisomy 21 and Moyamoya syndrome. [ABSTRACT FROM AUTHOR]

Background: Moyamoya syndrome is a vasculopathy characterised by progressive occlusion of the cerebral arteries resulting in the development of abnormal collateral circulation. To diagnose this syndrome, imaging of the cerebral arteries is required including CT- or MR-angiography and conventional angiography. We present a case of moyamoya disease with typical findings detected in the sonography. The diagnosis was suspected after reviewing the initial ultrasound images of the cerebral arteries with evidence for obliterated intracranial arteries and the detection of an existing collateral circulation network.Case Presentation: A 62 years old male patient presented in the hospital's emergency department with symptoms indicating a subacute cerebrovascular event. Immediate sonographic studies showed a right-sided pulsatile Doppler-signal in the common and internal carotid arteries, suggestive of distal stenoses. In addition, the transcranial examination indicated obliteration of both middle cerebral arteries. Numerous arterial vessels suggestive of leptomeningeal collateral arteries revealed a strong arterial leptomeningeal flow. At this stage of the diagnostic work-up, the collateral circulation network, characteristic of moyamoya disease, was indicated by sonography. Moyamoya syndrome was verified by conventional angiography. The aetiological work remained empty, so the diagnosis of moyamoya disease was established.Conclusion: Our case report indicates that sonography can be a useful tool for detecting the vaculopathy in moyamoya syndrome. In case routine procedures, such as the CT- or MR-angiography, with evidence for obliterated intracerebral arteries, ultrasound studies might provide important information regarding an existing collateral network in the scope of a moyamoya syndrome. [ABSTRACT FROM AUTHOR]

Moyamoya disease is an idiopathic, nonatherosclerotic, noninflammatory, chronic progressive cerebrovascular disease characterized by bilateral stenosis or occlusion of the arteries around the circle of Willis, typically the supraclinoid internal carotid arteries, followed by extensive collateralization, which are prone to thrombosis, aneurysm, and hemorrhage. Secondary moyamoya phenomenon or moyamoya syndrome (MMS) occurs in a wide range of clinical scenarios including prothrombotic states such as sickle cell anemia, but the association with other hemoglobinopathies is less frequently observed. We describe a case of a 25-year-old female with hemoglobin E-beta thalassemia who had a rare presentation of MMS in the form of choreoathetoid movements in the left upper and lower extremities. We describe this association, primarily to emphasize thalassemia as an extremely rare but a potential etiology of MMS. Since MMS is a progressive disease, it is important to diagnose and initiate treatment to prevent worsening of the disease and recurrence of stroke. [ABSTRACT FROM AUTHOR]

Moyamoya angiopathy is characterized by a progressive stenosis of the terminal portion of the internal carotid arteries and the development of a network of abnormal collateral vessels. This chronic cerebral angiopathy is observed in children and adults. It mainly leads to brain ischemic events in children, and to ischemic and hemorrhagic events in adults. This is a rare condition, with a marked prevalence gradient between Asian countries and Western countries. Two main nosological entities are identified. On the one hand, moyamoya disease corresponds to isolated moyamoya angiopathy, defined as being "idiopathic" according to the Guidelines of the Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the Circle of Willis. This entity is probably multifactorial and polygenic in most patients. On the other hand, moyamoya syndrome is a moyamoya angiopathy associated with an underlying condition and forms a very heterogeneous group with various clinical presentations, various modes of inheritance, and a variable penetrance of the cerebrovascular phenotype. Diagnostic and evaluation techniques rely on magnetic resonance imaging (MRI), magnetic resonance angiography (MRA) conventional angiography, and cerebral hemodynamics measurements. Revascularization surgery can be indicated, with several techniques. Characteristics of genetic moyamoya syndromes are presented, with a focus on recently reported mutations in BRCC3/ MTCP1 and GUCY1A3 genes. Identification of the genes involved in moyamoya disease and several monogenic moyamoya syndromes unraveled different pathways involved in the development of this angiopathy. Studying genes and pathways involved in monogenic moyamoya syndromes may help to give insights into pathophysiological models and discover potential candidates for medical treatment strategies. [ABSTRACT FROM AUTHOR]

Neurofibromatosis type 1 (NF1) can virtually affect any organ, presenting most frequently with "cafe au lait" spots and neurofibromas. Vasculopathy is a known complication of NF1, but cerebrovascular disease is rare. We report the case of a 51-year-old man admitted to the hospital with a history of stroke four months before admission. On physical examination, he presented various "cafe au lait" spots and cutaneous neurofibromas. Neurologic examination demonstrated right-sided facial paralysis, right-sided hemiplegia, and aphasia. Computed tomography scan of head showed hypodense areas in the basal ganglia and centrum semiovale. Radiographs of cranium and cervical spine showed basilar impression. Angiography revealed complete occlusion of both vertebral and left internal carotid arteries, and partial stenosis of the right internal carotid artery. A large network of collateral vessels was present (moyamoya syndrome). It is an uncommon case of occlusive cerebrovascular disease associated with NF1, since most cases described in the literature are in young people, and tend to spare the posterior cerebral circulation. Basilar impression associated with this case may be considered a pure coincidence, but rare cases of basilar impression and NF1 have been described.

Moyamoya disease (MMD) is a rare chronic progressive intracranial arteriopathy of unknown origin with particular involvement of the arteries that feed circle of Willis, characterized by varying degrees of stenosis or occlusion and development of abnormal adjacent collateral networks. MMD may have different presentations: transient ischaemic attacks, ischaemic or hemorrhagic strokes, migraine-like headaches, cognitive decline, and rarely - epileptic seizures. The incidence of MMD is 10 times higher in Japan, however the disease occurs in all populations. We present a patient diagnosed with moyamoya syndrome (MMS) which manifested with simple partial secondary generalized epileptic seizures. MMS for this patient was diagnosed only after 6 years from the beginning of seizures and only after the event of stroke. [ABSTRACT FROM AUTHOR]

Background: Several coexisting diseases have been reported in patients with moyamoya vasculopathy (MMV), but studies of quasi-moyamoya disease (quasi-MMD) are rare. This study aims to investigate the frequency of known coexisting diseases in patients with quasi-MMD and to compare quasi-MMD with moyamoya disease (MMD). Methods: Between 2000 and 2011, we retrospectively screened patients with International Classification of Diseases, Ninth Revision, code of 4375 (MMD) in the Health Information System of our hospital. The vascular images of each patient were confirmed by 2 neurologists and 1 neuroradiologist based on the diagnostic criteria of Japan Ministry of Health and Welfare. We excluded the patients with missing images and erroneous diagnosis. Demographics, coexisting diseases, laboratory data, treatment, and recurrent strokes were recorded. The eligible patients were divided into quasi-MMD and MMD groups according to the presence or absence of coexisting diseases. Results: MMV was found in 90 patients including 37 (41.1%) quasi-MMD and 53 (58.9%) MMD. Atherosclerosis (32.4%) and thyroid disease (29.7%) were the leading coexisting diseases in quasi-MMD. Patients with MMD became symptomatic in a bimodal age distribution, whereas patients with quasi-MMD became symptomatic in a single-peak distribution. The prognosis of recurrent strokes was similar between quasi-MMD and MMD based on Kaplan–Meier analysis. Conclusions: A bimodal distribution of onset age was noted in MMD, whereas a single-peak distribution was found in quasi-MMD. Coexisting diseases were usually underevaluated but were more common than expected in patients with MMV. Atherosclerosis and thyroid diseases were the leading coexisting diseases in different preferential age. [Copyright &y& Elsevier]