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Background: Recent advances are in the genetics, diagnosis, pathophysiology, and management of moyamoya disease (MMD), and moyamoya syndrome (MMS), a term used to describe moyamoya-like vasculopathy associated with various systemic diseases or conditions. Summary: Ring finger protein (RNF213) has been reported to be a susceptibility gene not only for MMD but also for atherosclerotic intracranial arterial stenosis and ischemic stroke attributable to large artery atherosclerosis. The latest guidelines by the Research Committee on MMD of the Japanese Ministry of Health, Labor, and Welfare, removed limitations of the previous definition that required bilateral involvement of the intracranial carotid artery to make the diagnosis, given the increasing evidence of progression to bilateral involvement in unilateral MMD. 3-dimensional constructive interference in steady-state MRI is useful for the differential diagnosis of MMD from atherosclerosis. Recent advances in the pathophysiology of MMD suggest that genetic and environmental factors play important roles in vascular angiogenesis and remodeling via complex mechanisms. The latest Japanese Guidelines and American Scientific Statement described that antiplatelet therapy can be considered reasonable. Endovascular interventional stent placement fails to prevent ischemic events and does not halt MMD progression. In the Japan Adult Moyamoya trial, a randomized controlled trial for bilateral extracranial-intracranial direct bypass versus conservative therapy in patients with MMD, who had intracranial hemorrhage, recurrent bleeding, completed stroke, or crescendo transient ischemic attack was significantly fewer with direct bypass than with conservative care. Key Messages: This review presents updated information on genetics, diagnosis, pathophysiology, and treatment of adult MMD and MMS. Despite recent advances, many mysteries still exist in the etiologies of moyamoya vasculopathy. The diagnostic criteria and treatment guidelines have been updated but not yet been globally established. Ongoing and future studies investigating underlying pathophysiological mechanisms of MMD and MMS may clarify potentially effective medical, surgical, or endovascular treatments.

Purpose: Moyamoya disease and syndrome represent rare entities characterized by progressive stenosis and/or occlusion of the intracranial blood vessels. We present our series of patients with moyamoya disease and syndrome stratified by underlying disease and analyze differences in presentation and outcome following surgical revascularization. Methods: This was an Institutional Review Board (IRB) approved, retrospective review of all patients surgically revascularized by the senior author (SNM) while at Children's National Hospital in Washington, DC. Demographic data, presenting symptoms and severity, surgical details, and functional and radiographic outcomes were obtained and analyzed for differences among the underlying cohorts of moyamoya disease and syndrome as well as by unilateral or bilateral disease and index or non-index surgeries. Results: Twenty-two patients were identified with the following underlying diseases: six with idiopathic moyamoya disease, six with sickle cell anemia, five with trisomy 21, and five with neurofibromatosis type 1. Thirty hemispheres were revascularized with a significantly reduced rate of stroke from 3.19 strokes/year (SD = 3.10) to 0.13 strokes/year (SD = 0.25), p = 0.03. When analyzed by underlying cause of moyamoya syndrome, patients with neurofibromatosis type 1 were found to be significantly less likely than the other subtypes of moyamoya syndrome to have had either a clinical stroke (0.0% neurofibromatosis type 1 vs. 100.0% sickle cell, 60.0% trisomy 21, or 83.3% moyamoya disease, p < 0.01) or radiographic stroke (0.0% neurofibromatosis type 1 vs. 100.0% sickle cell, 60.0% trisomy 21, or 83.3% moyamoya disease, p < 0.01) at time of presentation. Patients with moyamoya syndrome associated with sickle cell disease were more likely to present with clinical and radiographic strokes. Additionally, patients with bilateral disease demonstrated no difference in final functional outcome compared to patients with unilateral disease (mRS 0.73 (SD = 1.33) vs. 1.29 (SD = 1.60), p = 0.63). Conclusion: Indirect surgical revascularization decreases stroke risk for pediatric patients with different forms of moyamoya disease and moyamoya syndrome. Additionally, these data suggest that sickle cell anemia-associated moyamoya syndrome may represent a more aggressive variant, while neurofibromatosis type 1 may represent a more benign variant. [ABSTRACT FROM AUTHOR]

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]

Purpose: Several underlying conditions of moyamoya syndrome (MMS) are well established, but so far, D-2-hydroxyglutaric aciduria (D-2-HGA) has not been mentioned. We are the first to describe a case of a patient suffering from D-2-HGA developing MMS. Methods: The co-occurrence of D-2-HGA and MMS in a patient is reported. Furthermore, we describe the neurosurgical revascularization procedure performed and report on the follow-up. Results: A 7-year-old girl suffering from D-2-HGA developed two transient ischemic attacks (TIAs). Using MRI/MRA and invasive angiography MMS was diagnosed. We performed an encephalo-duro-arterio-myo-synangiosis (EDAMS) as an indirect revascularization procedure first on the right and 2 months later on the left hemisphere. We have followed her up until the age of 10. Since the second surgery, she has not suffered further TIAs and is in a better general medical condition. Conclusion: Even though children with D-2-HGA often suffer epileptic attacks, every new (transient) neurological deficit should be followed up by an MRI/MRA so as not to oversee a possible underlying MMS. After diagnosis, EDAMS in combination with acetylsalicylic acid (ASA) is recommended to prevent further ischemic events. [ABSTRACT FROM AUTHOR]

Background Children with moyamoya arteriopathy have reduced subsequent ischemic risk after revascularization surgery and it is also suggested that hemorrhagic risk may also be reduced by minimizing hemodynamic stress on collateral vasculature recruited within the brain parenchyma, but this has been studied only in intermediate follow‐up or follow‐up for more than a decade in East Asian populations. We aimed to evaluate the incidence of hemorrhagic stroke in long‐term follow‐up and identify at‐risk subpopulations. Methods A single surgeon's personal case series with decades of follow‐up was reviewed for children (18 years or younger) treated with revascularization surgery. This included medical records and the surgeon's personal correspondence. Results Hemorrhagic stroke occurred in 2.6% of 302 children followed for a median of 21 years after surgery. Occurring at a median of 19 years (interquartile range 14–22.75) after surgery, these hemorrhages would not be recognized in series that discontinue follow‐up at transition from pediatric to adult neurosurgical care. There was a higher proportion (5.5‐fold hazard, 95% CI, 1.1–27.6) of patients who had prior radiation therapy in the group with hemorrhagic stroke compared with the overall group. Close retrospective evaluation of vascular imaging suggests aneurysms of the collateral periventricular vessels as a common culprit. Conclusion Children who have moyamoya treated with revascularization surgery remain at long‐term risk of hemorrhagic stroke during adulthood, even though their ischemic stroke risk is significantly mitigated. These patients would benefit from continued clinical and radiological follow‐up, potentially with advanced imaging modalities.

The gold standard for evaluation of the severity of moyamoya vasculopathy is the Suzuki grade determined with cerebral catheter angiography (CA). With greater use of magnetic resonance angiography (MRA) it is important to understand if MRA is truly comparable to CA. Children with moyamoya were evaluated using the Suzuki score for CA and the modified MRA six-stage Suzuki score to describe the angiographic findings in moyamoya from initial narrowing of the distal internal carotid artery to the "puff of smoke" appearance of the lenticulostriate collaterals and finally to the disappearance of this network of collaterals. Using Cohen kappa we compared Suzuki grade based on CA with MRA in the same patients. A total of 27 children with moyamoya were reviewed. We calculated a weighted Cohen kappa of 0.49 (P < 0.0001), which is a moderate correlation. We suggest caution in the reliance on MRA for the diagnosis and evaluation of severity of moyamoya in children. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background Sjögren's syndrome is a chronic autoimmune disorder that predominantly affects exocrine organs. It is characterized by an organ-specific infiltration of lymphocytes. The involvement of the major cerebral arteries in Sjögren's syndrome has rarely been reported. A recent study reported a case of successful extracranial–intracranial (EC–IC) bypass without complications, even in the active inflammatory state, although the optimal timing of such a bypass remains unclear. Case Description We here report the case of a 43-year-old woman presenting with acute ischemic stroke due to progressive middle cerebral artery (MCA) occlusion and signs of primary Sjögren's syndrome. During intensive immunosuppressive therapy for active Sjögren's syndrome, the patient was monitored using contrast-enhanced magnetic resonance vessel wall imaging (MR-VWI). A couple of intravenous cyclophosphamide injections combined with a methylprednisolone pulse and antiplatelet therapy resulted in clear resolution of vessel wall enhancement, which suggested remission of inflammatory vasculitis. Nevertheless, she still experienced a transient ischemic attack (TIA) due to decreased regional cerebral blood flow by MCA occlusion, as demonstrated by the conventional time-of-flight MR angiography and single-photon emission computed tomography. Considering the increased risk of further stroke, the decision was made to perform an EC–IC bypass as a treatment for medically uncontrollable hemodynamic impairment. Her postoperative course was uneventful without further repeated TIAs, and continued immunosuppressive therapy for Sjögren's syndrome provided effective management. Conclusions Our findings emphasize the diagnostic value of contrast-enhanced MR-VWI in monitoring the effect of immunosuppressive therapy for the major cerebral artery vasculitis and in determining the timing of EC–IC bypass as a "rescue" treatment for moyamoya syndrome associated with active Sjögren's syndrome. [ABSTRACT FROM AUTHOR]

Purpose: Few guidelines exist for genetic testing of patients with moyamoya arteriopathy. This study aims to characterize the yield of genetic testing of non-syndromic moyamoya patients given the current pre-test probability. Methods: All pediatric moyamoya patients who received revascularization surgery at one institution between 2018 and 2022 were retrospectively reviewed. Patients with previously diagnosed moyamoya syndromes or therapeutic cranial radiation were excluded. Results: Of 117 patients with moyamoya, 74 non-syndromic patients (44 females, 59%) were eligible. The median age at surgery was 8.1 years. Neurosurgeons referred 18 (24%) patients for neurogenetic evaluation. Eleven (61%) patients subsequently underwent genetic testing. Eight (73%) patients had available testing results. Five (62.5%) of these patients had developmental delay compared to 16 (22%) of the entire cohort. Six (75%) patients who underwent genetic testing were found to have at least one genetic variant. These results led to diagnosis of a new genetic disorder for 1 (12.5%) patient and screening recommendations for 2 (25%) patients. An RNF213 variant in one patient led to recommendations for family member screening and pulmonary hypertension screening. Another patient was diagnosed with CBL disorder and referred for cancer screening. The median age at surgery in patients with clinically actionable findings was 4.6 years compared to 9.2 years in those who were referred for genetic testing. All 3 patients who had an actionable finding had developmental delay. Conclusion: It may be beneficial to refer moyamoya patients under 5 for genetic screening given the high likelihood of discovering actionable mutations. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to elucidate the genetic pathways associated with Moyamoya disease (MMD) and Moyamoya syndrome (MMS), compare the functional activities, and validate relevant related genes in an independent dataset. Methods: We conducted a comprehensive search for genetic studies on MMD and MMS across multiple databases and identified related genes. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichments analyses were performed for these genes. Commonly shared genes were selected for further validation in the independent dataset, GSE189993. The Sangerbox platform was used to perform statistical analysis and visualize the results. P＜0.05 indicated a statistically significant result. Results: We included 52 MMD and 51 MMS-related publications and identified 126 and 51 relevant genes, respectively. GO analysis for MMD showed significant enrichment in cytokine activity, cell membrane receptors, enzyme binding, and immune activity. A broader range of terms was enriched for MMS. KEGG pathway analysis for MMD highlighted immune and cellular activities and pathways related to MMS prominently featured inflammation and metabolic disorders. Notably, nine overlapping genes were identified and validated. The expressions of RNF213, PTPN11, and MTHFR demonstrated significant differences in GSE189993. A combined receiver operating characteristic curve showed high diagnostic accuracy (AUC = 0.918). Conclusions: The findings indicate a close relationship of MMD with immune activity and MMS with inflammation, metabolic processes and other environmental factors in a given genetic background. Differentiating between MMD and MMS can enhance the understanding of their pathophysiology and inform the strategies for their diagnoses and treatment.

Paediatric patients receiving cranial irradiation therapy for brain tumours are at increased risk of cerebrovascular complications. Radiation-induced moyamoya syndrome (MMS) is a well-recognised complication of this. We present a case of an 8-year-old boy with a history of medulloblastoma, who underwent surgical excision followed by post-operative adjuvant oncological treatment. Six years later, he developed cerebellar/intraventricular haemorrhage. He underwent an emergency external ventricular drain (EVD) insertion followed by posterior fossa suboccipital craniotomy. On dural opening, an abnormal vessel was visualised on the surface of the right cerebellar hemisphere, which was not disturbed. No obvious abnormalities were identified intra-operatively. Cerebral catheter angiography confirmed the presence of a right-sided occipital artery (OA) to posterior inferior cerebellar artery (PICA) extracranial to intracranial (EC-IC) bypass with a zone of the distal PICA territory supplied by this EC-IC bypass. A presumed flow aneurysm originated from the bypass in the distal PICA, identified as cause for the haemorrhage. We highlight a rare cause for intracranial haemorrhage in this cohort of patients. Children who have undergone radiotherapy may have exquisitely sensitive cerebral vasculature and need careful vigilance and evaluation for vasculopathic complications following spontaneous haemorrhage. [ABSTRACT FROM AUTHOR]

Cranial irradiation is associated with several adverse events such as endocrinopathy, growth retardation, neurocognitive impairment, secondary malignancies, cerebral vasculopathy, and potential stroke. The better side effects profile of proton beam therapy compared with that of photon radiation therapy is due to its physical properties, mainly the sharp dose fall-off after energy deposition in the Bragg peak. Despite the better toxicity profile of proton beam therapy, the risk of moyamoya syndrome still exists. We conducted a systematic review of the existing literature on moyamoya syndrome after receiving cranial radiation therapy for pediatric brain tumors to investigate the incidence of moyamoya syndrome after receiving photon versus proton radiation therapy. In this review, we report that the incidence of moyamoya syndrome after receiving proton beam therapy is almost double that of photon-induced moyamoya syndrome. Patients who received proton beam therapy for the management of pediatric brain tumors are more likely to develop moyamoya syndrome at the age of less than 5 years. Meanwhile, most patients with proton-induced moyamoya are more likely to be diagnosed within the first 2 years after the completion of their proton beam therapy. [ABSTRACT FROM AUTHOR]

The main treatment for moyamoya disease (MMD) is revascularization surgery. Most bypasses use the superficial temporal artery (STA) as the donor vessel. However, even if the STA–middle cerebral artery (MCA) bypass is functioning, the affected hemisphere can continue to be symptomatically malperfused. We sought to assess the efficacy of salvage direct revascularization surgery using the occipital artery (OA) as a donor vessel in patients with ischemic MMD who experience continued cerebral malperfusion despite previous successful STA-MCA bypass. We retrospectively analyzed the cerebrovascular databases of 2 surgeons and described patients in whom the OA was used as the donor vessel for direct revascularization. Seven patients were included (5 women). Previous STA-MCA bypasses were direct (n = 2), indirect (n = 3), or combined/multiple (n = 2). The mean (SD) interval between STA-MCA and OA-MCA procedures was 29.2 (13.1) months. Despite an intact STA-MCA bypass in all 7 cases, all 7 patients had recurrent symptoms and demonstrated residual impaired cerebral perfusion. All 7 patients underwent successful OA-MCA direct revascularization. Follow-up perfusion imaging was obtained for 6 of 7 patients. All 6 of these patients demonstrated improved cerebral blood flow to the revascularized hemispheres. All 7 patients demonstrated clinical improvement. Patients with ischemic MMD who have continued symptoms and cerebral malperfusion despite previous successful STA-MCA bypass present a challenging clinical scenario. Our series highlights the potential utility of the OA-MCA direct bypass as a salvage therapy for these patients. [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

烟雾病是一种以双侧颈内动脉末端及大脑前动脉、大脑中动脉起始部慢性进行性狭窄或闭塞为特征，并继发颅底异常血管网形成的脑血管疾病。甲状腺功能亢进继发烟雾病的发病机制尚不清楚，可能与甲状腺功能、免疫与炎症、遗传因素等有关。免疫和炎症相关的分子变化对血管内皮细胞和平滑肌细胞的影响，可能在颅内大动脉狭窄、闭塞和烟雾血管的形成中起着重要作用。本文对甲状腺功能亢进继发烟雾病的可能病理生理学机制、免疫与炎症、遗传因素等发病机制进行综述。 Abstract: Moyamoya disease is a kind of cerebrovascular disease characterized by chronic progressive stenosis or occlusion at the end of bilateral internal carotid arteries and the beginning of anterior cerebral arteries and middle cerebral arteries, followed by abnormal vascular network formation at the skull base. The pathogenesis of moyamoya disease secondary to hyperthyroidism is still unclear, and may be related to the thyroid function, immunity and inflammation, and genetic factors. The effects of immunity and inflammation related molecular changes on vascular endothelial cells and smooth muscle cells, may play a key role in the formation of moyamoya vessels and large intracranial artery stenosis and occlusion. This paper summarized the pathogenesis of moyamoya disease secondary to hyperthyroidism by reviewing the available literature.

Purpose: Moyamoya (MM) disease is characterized by progressive intracranial arterial stenosis. Patients commonly need revascularization surgery to optimize cerebral blood flow (CBF). Estimation of CBF and cerebrovascular reserve (CVR) is therefore necessary before and after surgery. However, assessment of CBF before and after indirect revascularization surgery with the multiple burr hole (MBH) technique in MM has not been studied extensively. In this study, we describe our initial experience using arterial spin labeling magnetic resonance perfusion imaging (ASL-MRI) for CBF and CVR assessment before and after indirect MBH revascularization surgery in MM patients. Methods: Eleven MM patients (initial age 6–50 years, 1 male/10 female) with 19 affected hemispheres were included. A total of 35 ASL-MRI examinations were performed using a 3D-pCASL acquisition before and after i.v. acetazolamide challenge (1000 mg in adults and 10 mg/kg in children). Twelve MBH procedures were performed in seven patients. The first follow-up ASL-MRI was performed 7–21 (mean 12) months after surgery. Results: Before surgery, CBF was 46 ± 16 (mean ± SD) ml/100 g/min and CVR after acetazolamide challenge was 38.5 ± 9.9 (mean ± SD)% in the most affected territory (middle cerebral artery). In cases in which surgery was not performed, CVR was 56 ± 12 (mean ± SD)% in affected hemispheres. After MBH surgery, there was a relative change in CVR compared to baseline (preop) of + 23.5 ± 23.3% (mean ± SD). There were no new ischemic events. Conclusion: Using ASL-MRI we followed changes in CBF and CVR in patients with MM. The technique was encouraging for assessments before and after revascularization surgery. [ABSTRACT FROM AUTHOR]

Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by progressive large intracranial artery narrowing and development of small vessel collaterals. Moyamoya syndrome (MMS) refers to the angiographic findings of MMD with predisposing medical conditions. Varicella-associated cerebral vasculopathy (VACV) is a severe complication of varicella zoster virus (VZV) infection and its association with MMS is rare in adult. We report on a case of a 55-year-old lady who presented with progressively worsening dysphasia and left lower limb weakness following a week of right herpes zoster ophthalmicus infection. The initial Magnetic Resonance Imaging (MRI) of brain demonstrated features of encephalitis with micro abscesses. Her serial repeated MRI brain imagings subsequently demonstrated worsening of cerebral infarctions with right internal carotid artery stenosis and basal ganglia collaterals suggestive of Moyamoya vasculopathy. This case highlights the rare association of VACV with MMS and should be considered as a potential serious complication in patients with VZV infection. [ABSTRACT FROM AUTHOR]

Background and objective: The correlation between intracranial large artery disease and cerebral small vessel disease (CSVD) has become a noteworthy issue. Dilated perivascular spaces (dPVS) are an important marker of CSVD, of which cerebral atrophy has been regarded as one of the pathologicalmechanisms. DPVS has been found to be associated with vascular stenosis in patients withmoyamoya disease (MMD), but the underlying mechanism remains unclear. The purpose of our study was to explore the correlation between the middle cerebral artery (MCA) stenosis and dPVS in the centrum semiovale (CSO-dPVS) in patients with MMD/moyamoya syndrome (MMS) and to determine whether brain atrophy plays a mediating role in this relationship. Methods: A total of 177 patients were enrolled in a single-center MMD/MMS cohort. Images of their 354 cerebral hemispheres were divided into three groups according to dPVS burden: mild (dPVS 0–10), moderate (dPVS 11–20), and severe (dPVS > 20). The correlations among cerebral hemisphere volume, MCA stenosis, and CSO-dPVS were analyzed, adjusting for the confounding factors of age, gender, and hypertension. Results: After adjustment for age, gender, and hypertension, the degree of MCA stenosis was independently and positively associated with ipsilateral CSO-dPVS burden (standardized coefficient: β = 0.247, P < 0.001). A stratified analysis found that the subgroup with a severe CSO-dPVS burden exhibited a significantly higher risk of severe stenosis of the MCA [p < 0.001, OR = 6.258, 95% CI (2.347, 16.685)]. No significant correlation between CSO-dPVS and ipsilateral hemisphere volume was found (p = 0.055). Conclusion: In our MMD/MMS cohort, there was a clear correlation between MCA stenosis and CSO-dPVS burden, which may be a direct effect of large vessel stenosis, without a mediating role of brain atrophy. [ABSTRACT FROM AUTHOR]

Abstract Background This study characterized vessel wall imaging (VWI) features of Moyamoya disease (MMD) in a predominantly adult population at a North American center. Methods Consecutive patients with VWI were included. Twelve arterial segments were analyzed for wall thickening, degree and pattern of contrast enhancement, and remodeling. Results Overall, 286 segments were evaluated in 24 patients (mean age = 36.0 years [range = 1–58]). Of 172 affected segments, 163 (95%) demonstrated negative remodeling. Complete vessel wall obliteration was most frequent in the proximal M1 (17/48, 35%). Affected segments enhanced in 72/172 (42%) (n = 15 for grade II; n = 54 for concentric and n = 18 for eccentric); 20 of 24 (83%) patients had at least one enhancing segment. Both enhancing and non-enhancing segments were present in 19/20 (95%) patients. Vessel wall enhancement was most common in the proximal segments and correlated to the degree of stenosis (p

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. [ABSTRACT FROM AUTHOR]

Background and objectives: Cerebral revascularization surgery is the mainstay of treatment for moyamoya syndrome (MMS) today, and intraoperative determination of the patency of the revascularized vessel is a critical factor in the success of the procedure. Currently, major imaging modalities include intraoperative indocyanine green (ICG) videoangiography (ICG-VA), digital subtraction angiography (DSA), and vascular ultrasound Doppler. Infrared thermography is a modern imaging modality with non-contact devices for the acquisition and analysis of thermal data. We aimed to investigate the feasibility and advantages of infrared thermography in determining anastomotic patency during MMS surgery. Methods: Indocyanine green videoangiography and infrared thermography were performed simultaneously in 21 patients with MMS who underwent bypass surgery. The detection result of vessel patency was compared, and the feasibility and advantages of infrared thermography were assessed. Results: The patency of the anastomosis was accurately determined in 21 patients using either ICG angiography or infrared thermography. In 20 patients, the results of infrared thermography showed that the vascular anastomosis was unobstructed, and there was an agreement with the subsequent results of ICG-VA. In one patient, we suspected inadequate patency after testing the anastomosis with infrared thermography, and the results of ICG-VA evaluation of the anastomosis confirmed that there was indeed an anastomotic obstruction. Conclusion: Compared with ICG-VA, infrared thermography might offer an alternative non-invasive, contrast-free option in assessing anastomosis patency compared with ICG-VA, and it is likely to become more widely used in the clinic in the near future. [ABSTRACT FROM AUTHOR]

(1) Background: This report describes the surgical management of a case of concurrent AVM with the involvement of dural arteries and moyamoya syndrome. Given the infrequency of this combination, there is currently no established management strategy available. (2) Case Description: A 49-year-old male patient with multiple symptoms including headaches, tinnitus, and visual impairment diagnosed with the coexistence of an arteriovenous malformation with the involvement of dural arteries and moyamoya syndrome was admitted to the national tertiary hospital. The patient underwent surgical management through embolization of the AVM from the afferents of the dural arteries, which has resulted in positive clinical outcomes. However, this approach may not be suitable for all cases, and a multidisciplinary team approach may be required to develop an individualized treatment strategy. (3) Conclusion: The contradictory nature of the treatment approaches in cases of combined AVM with the involvement of dural arteries and MMD highlights the complex nature of this condition and the need for further research to identify the most effective treatment strategies. [ABSTRACT FROM AUTHOR]

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Objective: To analyze the clinical data of a case of primary antiphospholipid syndrome (PAPS) combined with moyamoya syndrome (MMS), and to explore the clinical characteristics of APS combined with MMS. Methods:The clinical data of a patient with PAPS and MMS were collected and analyzed by searching the relevant literatures. Results: The patient was a 23 year old female with 2 pathological pregnancies. The disease started with cerebral infarction. Cerebrovascular imaging showed severe stenosis or occlusion of bilateral internal carotid arteries with collateral vessels formation, which was consistent with MMS findings. Abdominal CT showed splenomegaly. The symptoms were improved after anticoagulation and immunosuppressive therapy. Through literature review at home and abroad, 7 patients with APS complicated with smoky vascular changes with detailed clinical data were found, all of them were female, with an average age of 26.6 years. Their clinical manifestations were heterogeneous, in which limb weakness was a common symptom, with arteriovenous thrombosis, pathological pregnancy and persistent positive antiphospholipid antibody as the main clinical manifestations. A total of 6 patients were followed up in detail, and the symptoms of the 5 patients were improved after anticoagulation and immunosuppressive therapy. One patient died of cerebral hemorrhage. Conclusions: APS is an autoimmune disease involving multiple systems. The case report of APS with MMS is very rare. The anticoagulant or antiplatelet therapy of APS is contradictory to the risk of bleeding in the collateral vessels of MMS, so dual antiplatelet therapy should be carefully selected.

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

Background There are no evidence‐based resources guiding the perioperative management of patients with moyamoya syndrome who are undergoing revascularization surgery. We investigated practice patterns among a transdisciplinary group aiming at identifying possible heterogeneity of practices on key components of care that warrant prospective studies. Methods We disseminated a web‐based Qualtrics survey internationally to physician members of the following: Neurocritical Care Society, Society of Critical Care Medicine, American Academy of Neurology, Society for Neuroscience in Anesthesiology and Critical Care, American Association of Neurological Surgeons, Asian Society of Neuroanesthesia and Critical Care, Indian Society of Neuroanesthesia and Critical Care, Japanese Society for Neuroscience in Anesthesiology and Critical Care, and World Federation of Neurosurgical Societies. The survey contained questions on demographics and aspects of preoperative, intraoperative, and postoperative care. Results Among the 175 physicians who managed at least 1 adult (aged ≥18 years) undergoing moyamoya revascularization in the preceding 24 months, 18 countries (United States, 84.6%) and 4 disciplines (anesthesiology [44.7%, 76/170], critical care medicine [30.6%, 52/170], neurology [32.4%, 55/170], and neurosurgery [15.3%, 26/170]) were represented. Anesthesiologists preferred total intravenous over volatile anesthesia (56.3%, 40/71 versus 42.3%, 30/71) and arterial line zeroing at the circle of Willis/tragus over the phlebostatic axis/right atrium intraoperatively (84.3%, 59/70 versus 11.4%, 8/70) and postoperatively (68.9%, 42/61 versus 24.6%, 15/61). Intraoperative blood pressure goals were primarily targeted to baseline blood pressure (34.8%, 48/138), whereas postoperative blood pressure goals were mainly determined by neurosurgeon preference (48.9%, 65/133). The predominant hemodynamic target was mean arterial pressure intraoperatively (50.4%, 68/135) and systolic blood pressure postoperatively (48.5%, 63/130). Crystalloid infusion was the preferred method to achieve perioperative hemodynamic goals (median rank, 1.0), followed by colloid infusion (median rank, 2.0) and phenylephrine (median rank, 2.0); however, colloid infusion and phenylephrine were considered contraindicated by 18.2% (10/55) and 20.0% (11/55), respectively. Conclusions We demonstrate perioperative practice heterogeneity for moyamoya syndrome revascularization among physicians for both methods and targets of hemodynamic management, constituting equipoise for prospective studies targeting optimal management strategies.

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.

Moyamoya syndrome (MMS) is a cerebrovascular disease characterized by stenosis of the internal carotid arteries and the formation of an abnormal vascular network at the base of the brain. MMS usually occurs secondary to various conditions, particularly Down syndrome, and sickle cell anemia, and presents with motor deficits, sensory symptoms, recurrent ischemic strokes, hemodynamic transient ischemic attacks, recurrent seizures, and hemorrhage. Trisomy 13 (Patau Syndrome) is a chromosomal abnormality that may be characterized by full or partial trisomy of chromosome 13. Phenotypic features of partial trisomy 13 include leukoencephalopathy, hippocampal hypoplasia, intellectual disability, facial anomalies, and others. Herein, we report a case of a 19-year-old female diagnosed with partial trisomy 13q, characterized by two large duplications in the 13q14 and 13q31 regions, with trisomy-induced bilateral MMS – the first known case to be discussed in literature. Particularly, our patient was identified to have a gain of 22Mb within the 13q14.11q21.31 region – a duplication that has not been described previously. Our patient suffered four strokes between the ages of 5 and 7, later developing intractable seizures, hemiplegia, spasticity in all limbs, global delay, and regression. Despite bilateral encephaloduroarteriosynangiosis and being on several antiepileptic medications, the MMS continued to progress, confounded by the partial trisomy 13. Studies must elucidate the association between mitochondrial damage and MMS, as well as mechanisms of epilepsy associated with chromosomal abnormalities, particularly in the context of underlying mitochondrial diseases.

BackgroundThe efficacy of indirect revascularization vs. non-surgical treatment in adults with Moyamoya disease (MMD) and Moyamoya syndrome (MMS) remains controversial.ObjectiveTo compare the clinical outcomes of indirect revascularization and non-surgical treatments in adult patients with MMD and MMS.MethodsWe collected medical records and follow-up results of adult patients with MMD and MMS who received treatment in the China-Japan Union Hospital of Jilin University between January 2019 and December 2021. A Shapiro–Wilk test, independent sample t-test or Mann-Whitney U-test, and Pearson chi-square test were used to compare baseline variables. The propensity-score analysis was used to compare clinical outcomes of patients with MMD and MMS who underwent indirect revascularization and non-surgical treatments. The color-coded digital subtraction angiography (CC-DSA) was used to quantitatively analyzed the preoperative and postoperative (at 6-month follow-up) images of patients in the surgical group.ResultsA total of 144 patients were included in this study, of whom 37 received indirect revascularization treatment and 107 received non-surgical treatment. The average age of the patients was 58.3 ± 13.4 years. Perioperative complications were observed in eight of the operations. During the follow-up period, a total of 35 stroke events occurred, including two cases (5.4%) in the surgery group and 33 cases (30.8%) in the non-surgery group (p < 0.05). The preoperative mean transit time (MTT) of bypass vessel (superficial temporal artery, STA) was 0.26 ± 0.07, and the postoperative MTT of bypass vessel was 3.0 ± 0.25, and there was no statistical difference between the subgroups.ConclusionIndirect revascularization surgery can significantly reduce the recurrent stroke incidence of MMD and MMS patients.

Moyamoya syndrome causes progressive stenosis of intracranial internal carotid arteries and may be associated with genetic disorders like Down's or Turner's syndromes. We treated a male pseudohermaphrodite patient with congenital adrenal hyperplasia (CAH) with clinical and radiological features of moyamoya vasculopathy. To our knowledge, this association has not been reported. The 42-year-old patient presented with an intraventicular bleed. Cerebral angiography revealed moyamoya vasculopathy. He was hypertensive and had primary amenorrhea. Secondary sexual characteristics were poorly developed and he had ambiguous genitalia. Breast development was Tanner stage 3. Investigation revealed hypokalemia. With primary amenorrhea, persistent hypokalemia, hypertension and ambiguous genitalia, CAH was considered as a possibility and confirmed on hormone profile. Karyotyping revealed 46XY pattern. Abdominal ultrasound revealed hyperplasia of the adrenal glands, absent uterus and ovaries and ectopic testicles in inguinal canals. He was put on steroids and his blood pressure controlled. To the best of our knowledge we report the first case of moyamoya syndrome occurring in association with CAH. [ABSTRACT FROM AUTHOR]

Background: This study characterized vessel wall imaging (VWI) features of Moyamoya disease (MMD) in a predominantly adult population at a North American center. Methods: Consecutive patients with VWI were included. Twelve arterial segments were analyzed for wall thickening, degree and pattern of contrast enhancement, and remodeling. Results: Overall, 286 segments were evaluated in 24 patients (mean age = 36.0 years [range = 1–58]). Of 172 affected segments, 163 (95%) demonstrated negative remodeling. Complete vessel wall obliteration was most frequent in the proximal M1 (17/48, 35%). Affected segments enhanced in 72/172 (42%) (n = 15 for grade II; n = 54 for concentric and n = 18 for eccentric); 20 of 24 (83%) patients had at least one enhancing segment. Both enhancing and non-enhancing segments were present in 19/20 (95%) patients. Vessel wall enhancement was most common in the proximal segments and correlated to the degree of stenosis (p < 0.001), and outer wall diameter (p < 0.001), but not disease duration (p = 0.922) or Suzuki score (p = 0.477). Wall thickening was present in 82/172 (48%) affected segments and was associated with contrast enhancement (p < 0.001), degree of stenosis (p < 0.001), and smaller outer wall diameter (p = 0.004). Conclusion: This study presents VWI findings in North American patients with MMD. Negative remodeling was the most common finding. Most patients had both enhancing and non-enhancing abnormal segments. Vessel wall enhancement was most common in proximal segments, variable in pattern or degree and was correlated to the degree of stenosis and smaller outer wall diameter. [ABSTRACT FROM AUTHOR]

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. 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". 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. 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. • Thalassemia related MMS may not be so rare, probably under-recognized compared to SCD. • The pathophysiological basis between the MMS & thalassemia remains to be deciphered. • Cerebral ischemic insult was the predominant brain lesion. • Thalassemia type, severity of anemia & transfusion dependency can affect prognosis. • Consensus guideline for diagnosis & management of Thalassemia related MMS is needed. [ABSTRACT FROM AUTHOR]

Case: A 13-year-old girl presenting with scoliosis accompanied by type I neurofibromatosis (NF1) underwent deformity correction surgery. On the second postoperative day, she had sudden-onset acute cerebral infarctions and was diagnosed with moyamoya syndrome. After neurological conservative treatment, at the sixth month after surgery, her symptoms and signs were significantly improved and the daily life was not affected by herself. Conclusion: NF1 scoliosis with moyamoya syndrome is an uncommon inherited disorder. Intracranial vasculopathy is hardly detected from routine preoperative examinations. The specific intracranial vascular examination should be performed for patients with NF1 scoliosis, especially those who have a positive history of cerebral ischemic or hemorrhagic symptoms. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Introduction: Moyamoya syndrome associated with Williams syndrome is very rare but has been reported to have severe outcomes. Here, we reported a case of Williams syndrome with moyamoya syndrome that was confirmed by the presence of an RNF213 mutation. Case Presentation: A 6-year-old boy with Williams syndrome presented with right hemiparesis induced by hyperventilation. Magnetic resonance angiography and cerebral angiography showed severe stenosis of the bilateral internal carotid arteries and development of moyamoya vessels. Genetic analysis identified a heterozygous c.14576G>A (p.R4859K) mutation in RNF213. Moyamoya syndrome was diagnosed, and bilateral indirect revascularization surgery was conducted without complications and with a good postoperative course. In moyamoya syndrome associated with Williams syndrome, adequate perioperative management of both the moyamoya arteries and the cardiovascular abnormalities is important to prevent complications. Conclusion: This was the first report on a case in which moyamoya syndrome associated with Williams syndrome was confirmed by the presence of a heterozygous RNF213 mutation. Similar to the workup of moyamoya disease, confirmation of RNF213 mutation in Williams syndrome may be useful in predicting the development of moyamoya syndrome that can lead to severe complications. [ABSTRACT FROM AUTHOR]

Abstract Background Central nervous system affection in rheumatoid arthritis is rare. The most frequently encountered neurological complications with rheumatoid arthritis are peripheral neuropathy and atlantoaxial subluxation with subsequent spinal cord compression. Cerebral rheumatoid vasculitis is not a common complication. Case presentation A 60-year-old Egyptian female with history of rheumatoid arthritis for 15 years presented with headache and receptive aphasia. Computed tomography scan of the brain showed recent intracerebral hemorrhage. Digital subtraction cerebral angiography showed moyamoya syndrome angiographic pattern as sequelae of intracranial vasculitis. The patient did well with conservative management. Conclusion Cerebral rheumatoid vasculitis is rare, but can be a life-threatening condition. Early management of rheumatoid arthritis is essential to prevent such serious complication.

Moyamoya syndrome is a cerebrovascular disorder characterized by bilateral stenosis and occlusion of the internal carotid arteries and their branches. A 45-year-old woman with a history of systemic lupus erythematosus was admitted for recurrent ischemic strokes. Magnetic resonance (MR) angiography revealed moyamoya-like vasculopathy. Black-blood gadolinium-based contrast-enhanced MR images showed strong, concentric enhancement along the occluded arteries, which suggested vasculitis as the etiology of moyamoya-like vasculopathy. Intensive immunosuppressive therapy combined with anticoagulation therapy and rehabilitation led to a favorable outcome in this case. Black-blood MR imaging can be a non-invasive and prompt imaging modality when central nervous system vasculitis is suspected.

Moyamoya disease (MMD) is caused by stenosis or occlusion of internal carotid artery in brain, thereby reducing its blood supply. To augment blood flow, brain develops abnormal anastomotic vessels with deranged carbon dioxide reactivity and tendency to bleed. Moyamoya syndrome (MMS) is the name given to MMD when the latter results from secondary to some associated disease. Occurrence of MMS secondary to sickle cell anemia (SCA) presents unique challenges to neuroanesthesiologists. Management of various physiological parameters for cerebral revascularization surgery for MMD under general anesthesia necessitates vigilant and balanced control of various physiological variables, as the manipulation of a particular physiological variable for one pathology may adversely impact the same physiological variable for the associated disease, which will result in poor outcome of the patient. Therefore, optimum outcome of MMS is determined by a watchful balancing of various physiological parameters under anesthesia.

Moyamoya vasculapathy includes moyamoya disease and moyamoya syndrome. In recent years, the incidence of moyamoya vasculapathy has gradually increased, mostly involving children and young adults. It can cause cerebral ischemia and cerebral hemorrhage, which is extremely harmful to society. Cerebral revascularization is the main method to treat the disease. Among them, combined operation is the first choice for adult patients. However, the indirect part of this operation has relative poor effect with great trauma, which leads to some patients giving up operation due to psychological burdens such as fear. The minimally invasive keyhole bypass can supplement the maximum cerebral blood flow for the affected cerebral hemisphere on the premise of minimal damage. On the basis of previous studies, the author further narrowed the bone window through the preoperative plan of 3D imaging, and proposed three important factors to improve the blood supply efficiency of the direct bypass, namely, the integrity of the recipient vascular network, the pressure difference between the donor and recipient arteries and the blood flow direction. By taking these factors into consideration, it is expected that the safety and efficacy of keyhole bypass will be further improved. [ABSTRACT FROM AUTHOR]

Moyamoya syndrome increases the risk of stroke in sickle cell disease, but revascularization surgery can modify this risk. Collaborative management between hematology and neurosurgery offers effective strategies to reduce stroke risk in these patients. We describe a challenging case where a patient with sickle cell disease undergoing standard of care management as prescribed by the Stroke Prevention Trial in Sickle Cell Anemia and revascularization with pial synangiosis subsequently developed rapidly progressive disease in other cerebral vessels and suffered ischemic hemispheric stroke. This case not only demonstrates the success of management in accordance with the American Heart Association (AHA) and American Stroke Association (ASA) guidelines but also demonstrates critical areas where we lack understanding of disease progression. [ABSTRACT FROM AUTHOR]

Keywords: actinomycosis israelii; CNS actinomycosis; microbiological next-generation sequencing; moyamoya syndrome EN actinomycosis israelii CNS actinomycosis microbiological next-generation sequencing moyamoya syndrome 1139 1142 4 06/06/22 20220701 NES 220701 ACKNOWLEDGMENTS We are grateful to staff at Hugo biotech Co., Ltd., (Beijing, China) for sequencing. Central nervous system (CNS) actinomycosis is a rare infectious disease associated with several types of lesions, including abscesses, meningitis/meningoencephalitis, and actinomycetoma.1 Here, we report a case of moyamoya syndrome caused by CNS actinomycosis in a woman who had just undergone a cesarean section a month ago and was probably immunocompromised. [Extracted from the article]

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]

Moyamoya angiopathy, a rare cerebrovascular condition, can be primary (moyamoya disease) or secondary (moyamoya syndrome). Genetic factors, such as the ring finger protein 213 (RNF213), have been associated with moyamoya disease. However, X-linked moyamoya angiopathy/moyamoya syndrome and hypergonadotropic hypogonadism associated with moyamoya syndrome are rare. We report a case of a 14-year-old boy who presented with transient bilateral hemiparesis, recurrent seizures and cognitive decline. He previously had surgery for left-sided cryptorchidism and had been diagnosed with "epileptic attacks" or "functional movement disorders" in previous hospital admissions. Magnetic resonance angiography of the brain showed narrowing of supraclinoid portion of internal carotid arteries, as well as of middle and anterior cerebral arteries, and the presence of multiple collaterals. These findings were suggestive of moyamoya angiopathy. Laboratory investigations and karyotyping revealed a diagnosis of Klinefelter syndrome. This case presents a unique association of moyamoya angiopathy and Klinefelter syndrome in a boy from a poor socio-economic background, where the diagnosis and adequate treatment were delayed due to a lack of awareness and expertise. [ABSTRACT FROM AUTHOR]

Moyamoya syndrome (MMS) associated with hyperthyroidism, such as Graves' disease, is a rare condition that causes ischemic stroke with thyrotoxicity. A 43-yearold woman with symptoms of right hemiparesis was admitted. Brain magnetic resonance imaging revealed a small cerebral infarction in the left frontal lobe. Cerebral angiography revealed multi-vessel intracranial occlusive disease. Several days later, neurologic deterioration and aggravation of cerebral infarction developed due to a thyroid storm. A thyroid function test revealed the following: thyroid-stimulating hormone (TSH) <0.01 µunits/mL (reference range, 0.55-4.78 µunits/mL); triiodo-thyronine >8.0 ng/mL (reference range, 0.77-1.81 ng/mL); free thyroxine (T4) of 9.47 pmol/L (reference range, 11.4-22.6 pmol/L); and TSH receptor antibody of 37.10 U/L (reference range, 0-10 U/L). For thyroid storm management, we initiated treatment with methimazole, Gemstein's solution, and hydrocortisone. Finally, the thyroid disease was controlled, and neurologic deficits improved. We describe a case of acute cerebral infarction combined with a thyroid storm in a patient with Moyamoya syndrome and Graves' disease. Hyperthyroidism such as Graves' disease should be considered in the differential diagnosis for patho-etiologic mechanisms associated with MMS. A cerebrovascular disease with a thyroid storm can lead to severe mortality and morbidity. Prompt diagnosis and strict treatment are important. [ABSTRACT FROM AUTHOR]

Moyamoya is a rare occlusive cerebrovascular disease characterized by progressive stenosis of the terminal portion of the internal carotid artery and the circle of Willis. Over time, collateral arteries are usually formed at the basal ganglia, the so-called Moyamoya vessels. The exact cause of Moyamoya disease is unknown, while Moyamoya syndrome refers to Moyamoya-like vasculopathy due to autoimmune diseases, neurofibromatosis type I, sickle cell disease, radiation, or rarely Down syndrome. Down syndrome is one of the most common genetic conditions, characterized by typical physical traits, associated with intellectual disability and a heterogeneous group of structural defects that may vulnerable the patient for the development of Moyamoya syndrome. The reported case is an unusual case of a 2-year-old boy with Down syndrome who presented to the hospital with seizures and right-side weakness. Brain MRI shows acute as well as old lacunar infarctions in both cerebral hemispheres. Catheter angiography of the patient demonstrates severe stenosis and occlusion of the large vessels of the circle of Willis, predominantly on the right side. The collateral vessels with the typical pattern of “puff of smoke” were also depicted in the right basal ganglia, which is a characteristic imaging finding for Moyamoya. The patient was managed conservatively and eventually discharged with a minimal improvement of the right-sided weakness. This case report is noteworthy because of the rarity of Moyamoya syndrome as a cause of a stroke as well as its possible association with Down syndrome.