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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]

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]

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]

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]

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]

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]

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]

Objective: To explore the value of computed tomography perfusion (CTP) imaging for evaluating the efficacy of encephaloduroarteriosynangiosis (EDAS) treatment of moyamoya syndrome (MMS). Methods: Forty-three patients with MMS (48 hemispheres) who received EDAS treatment were examined using CTP and DSA before and after surgery. CTP of the ipsilateral cortex, contralateral mirror area, and pons region were measured, and the relative cerebral blood flow (rCBF) and volume (rCBV), mean transit time (rMTT), and time-to-peak (rTTP) were calculated. Based on postoperative DSA, 48 hemispheres were apportioned to two groups based on rich (grades 2, 3) or poor (grades 0, 1) collateral vessel formation, and the pre- and post-operative differences in perfusion changes were compared. The association between clinical outcome, CTP, and the degree of DSA collateral vessels was explored. Results: rCBF and rMTT significantly improved in both the poor and rich collateral vessel formation groups (n = 21 and 27, respectively), while rTTP significantly improved only in the latter. Postoperative CTP improved in the rich and the grade 1 collateral vessel groups (p < 0.01). The clinical improvement was consistent with the improvement of CTP (p = 0.07), but less consistent with the degree of collateral angiogenesis (p = 0.003). Conclusion: CTP can quantitatively evaluate the improvement of brain tissue perfusion in the operated area after EDAS. Brain tissue perfusion in operated areas improved regardless of postoperative rich or poor collateral vessel formation observed via DSA. A significant improvement in rTTP in the operated area may indicate the formation of abundant collateral vessels. Key Points: • CTP showed that brain tissue perfusion in the operated area after EDAS improved regardless of rich or poor collateral vessel formation observed via DSA. • Significant improvement of rTTP in the operated area may indicate the formation of abundant collateral vessels. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Moyamoya vasculopathy is a rare chronic cerebrovascular disorder characterized by the stenosis of the terminal branches of the internal carotid arteries and the proximal tracts of anterior and middle cerebral arteries. Although surgical revascularization does not significantly change the underlying pathogenic mechanisms, it plays a pivotal role in the management of affected individuals, allowing to decrease the risk of ischemic and hemorrhagic complications. Surgical approaches may be direct (extracranial-intracranial bypass), indirect, or a combination of the two. Several indirect techniques classifiable according to the tissue (muscle, periosteum, galea, dura mater, and extracranial tissues) or vessel (artery) used as a source of blood supply are currently available. In this study, we reviewed the pertinent literature and analyzed the advantages, disadvantages, and pitfalls of the most relevant indirect revascularization techniques. We discussed the technical aspects and the therapeutical implications of each procedure, providing a current state-of-the-art overview on the limits and pitfalls of indirect revascularization in the treatment of moyamoya vasculopathy. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the feasibility of CT angiography (CTA) for assessing anterior choroidal artery (AChA) and posterior communicating artery (PComA) dilatation in patients with moyamoya syndrome (MMS). Methods: Eighty-eight MMS patients who underwent digital subtraction angiography (DSA) and CTA within 1 month were enrolled. The AChA was graded using both DSA and CTA. Given the features of dual blood supply, DSA was firstly used for grading of the PComA. Then, the calibers of PComA, P1 or P2 segment of the posterior cerebral artery (PCA), were recorded from CTA. Taking DSA as a reference standard, the optimal cutoff values of the PComA/P1 or PComA/P2 were calculated to determine the dilatation of PComA. Both the AChA and PComA were classified as extreme dilatation (ED, grade 2) or non-extreme dilatation (NED, grade 0 or 1). Results: The AChA was evaluated in 149 affected hemispheres of 88 patients while the PComA was evaluated in 70 affected hemispheres of 49 patients. The sensitivity and specificity of CTA in diagnosing AChA-ED were 92% and 93.5% respectively. Both the PComA/P1 (p < 0.001) and PComA/P2 (p = 0.4) ratios were increased in the PComA-ED group with the former yielding a better detecting performance than the latter (AUC = 0.92 vs 0.85, p = 0.046). When using 0.71 as a cutoff value, the sensitivity and specificity of the PComA/P1 ratio for diagnosis of PComA-ED cases were 91.3% and 83.3% respectively. Conclusions: CTA could be used for the AChA classification in MMS patients, while a PComA/P1 ratio greater than 0.71 indicates the existence of PComA-ED. Key Points: • CTA showed a high sensitivity, specificity, and accuracy in diagnosing AChA-ED in patients with MMS. • PComA/P1 ratio greater than 0.71 on CTA signified an extremely dilated PComA. • CTA could be used to assess the dilatation of AChA and PComA in MMS patients, especially for routine postoperative follow-up. [ABSTRACT FROM AUTHOR]

Background: There are no previously published reports regarding the epidemiology and characteristics of moyamoya disease or syndrome in Ireland. Aims: To examine patient demographics, mode of presentation and the outcomes of extracranial-intracranial bypass surgery in the treatment of moyamoya disease and syndrome in Ireland. Methods: All patients with moyamoya disease and syndrome referred to the National Neurosurgical Centre during January 2012–January 2019 were identified through a prospective database. Demographics, clinical presentation, radiological findings, surgical procedures, postoperative complications and any strokes during follow-up were recorded. Results: Twenty-one patients were identified. Sixteen underwent surgery. Median age at diagnosis was 19 years. Fifteen were female. Mode of presentation was ischaemic stroke in nine, haemodynamic TIAs in eight, haemorrhage in three and incidental in one. Sixteen patients had Moyamoya disease, whereas five patients had moyamoya syndrome. Surgery was performed on 19 hemispheres in 16 patients. The surgical procedures consisted of ten direct (STA-MCA) bypasses, five indirect bypasses and four multiple burr holes. Postoperative complications included ischaemic stroke in one patient and subdural haematoma in one patient. The median follow-up period in the surgical group was 52 months; there was one new stroke during this period. Two patients required further revascularisation following recurrent TIAs. One patient died during follow-up secondary to tumour progression associated with neurofibromatosis type 1. Conclusions: Moyamoya is rare but occurs in Caucasians in Ireland. It most commonly presents with ischaemic symptoms. Surgical intervention in the form of direct and indirect bypass is an effective treatment in the majority of cases. [ABSTRACT FROM AUTHOR]

Moyamoya syndrome (MMS) is a chronic cerebrovascular disorder characterized by occlusion or stenosis of the internal carotid arteries with the formation of abnormal collateral vascular networks. Moreover, the development of MMS, which is a distinct category from "moyamoya disease," is attributed to the underlying disease, while some cases of MMS related to systemic lupus erythematosus (SLE) have been previously reported. Herein, we present the case of a 29-year-old Japanese woman with SLE in whom intracranial hemorrhage ascribable to MMS developed during pregnancy. Craniotomy was performed to remove hematoma, and prednisolone, tacrolimus, and hydroxychloroquine were consecutively administered. She ultimately achieved remission and childbearing without the relapse of cerebrovascular event. To our knowledge, this is the first report of MMS associated with SLE in pregnancy. Through reviewing published English articles and our case, it was suggested that the pathogenesis of SLE is implicated in the development of moyamoya vasculopathy leading to cerebrovascular events. Moreover, pregnancy may affect the bleeding from the fragile collateral vessel wall. [ABSTRACT FROM AUTHOR]

Patients with moyamoya angiopathy (MMA) are known to have an increased risk of impaired executive function (dysexecutive cognitive syndrome (DCS)). Numbers of moyamoya patients with DCS vary strongly in the literature; evidence of a correlation to affected vascular territories is low. This study aims to identify cognitive impairment in adult moyamoya patients and to correlate findings with imaging results. In addition, the predictive value of individual tests for the identification of DCS was analyzed. Neuropsychological test data of 41 adult moyamoya patients was analyzed for a possible correlation with territorial hypoperfusion on H215O PET with acetazolamide (ACZ) challenge (cerebrovascular reserve—CVR) and infarction patterns observed in MRI. Each vascular territory was analyzed separately and correlated to neuropsychological test results and to the presence of DCS. In total, 41.5% of patients presented with DCS. Significant association of DCS and affection of the right middle cerebral artery (MCA) territory was seen for insufficient CVR in PET (p = 0.030) and for patients with infarctions seen in MRI (p = 0.014). Analysis of individual neuropsychological test results confirmed the main association with the right MCA territory, as well as some association with the right anterior cerebral artery (ACA) territory. Analysis of a subgroup of patients with chronic disease on MRI (presence of large post-infarction gliosis and brain atrophy in affected territories) revealed a significantly higher risk for DCS (85% affected) than non-chronic patients (21% affected) (p < 0.001). Analysis of neuropsychological test data in this moyamoya cohort reveals DCS in 41.5% of all patients. Correlation between DCS and an impairment of CVR seen in PET and/or infarctions seen in MRI was significant for the right MCA territory. Patients with chronic disease had a significantly higher risk for DCS than non-chronic patients (p < 0.001). [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]

Introduction: Moyamoya angiopathy (MMA) is a rare cerebrovascular disease with progressive bilateral narrowing of intracranial parts of the internal carotid artery and proximal parts of the anterior and middle cerebral artery resulting in recurrent hemodynamic ischemic attacks, strokes and hemorrhages. If associated with other diseases, it is called Moyamoya syndrome (MMS). Until now, MMS has rarely been described with thalassemia. Methods: Of the 75 cases of MMA collected in our Indian center in the last 3 years, 4 new patients with the rare cooccurrence of thalassemia and MMS were found. Thalassemia cases were confirmed by hemoglobin electrophoresis and MMA was diagnosed on the basis of MR angiography. Other known secondary causes of MMA were ruled out by relevant investigations. Thirteen previously reported cases of thalassemia and MMA were retrieved by literature search in PubMed and Google Scholar using the keywords "Moyamoya" AND "thalassemia". Subsequently all the data were analyzed and compared by using descriptive statistics. Results: Analysis of our 4 cases and those 13 found in the literature showed early childhood diagnosis of thalassemia and in most cases later manifestation of MMS in the age of 14.5 + 10.72 years (mean + SD) in our cases and with 10.97 + 6.47 years in previous cases. While 9 out of the former 13 and 3 of our 4 cases showed obvious infarcts in brain imaging, 1 case with HbE-β-thalassemia presented with intracerebral hemorrhage. Hemiplegia/hemiparesis was present among all of our 4 cases, while it was present in 69.23% cases of the previous 13 reports. Neither transfusion dependence nor the history of splenectomy was found to be associated with MMA development. Conclusion: These four new cases of MMS in thalassemia enlarged our knowledge about MMS in patients with thalassemia. MMS is a relevant complication in patients with thalassemia and early detection is essential to avoid disability. [ABSTRACT FROM AUTHOR]

Background: Burr hole surgery for moyamoya disease and moyamoya syndrome is known to be an effective, versatile, and relatively simple revascularization technique. We will focus on the technical operative aspects of multiple burr hole surgery as we perform it in our center.Methods: Periosteal flaps are prepared and placed in a burr hole with beveled edge, after opening the dura and arachnoid membrane, in order to facilitate neovascularization into the ischemic cortex.Conclusions: Burr hole surgery is a versatile treatment modality for moyamoya and moyamoya-like disease. Success can be maximized by having a meticulous operative technique. [ABSTRACT FROM AUTHOR]

Background: Moyamoya disease (MMD) is a cerebrovascular disorder characterized by the progressive occlusion of the supraclinoid internal carotid artery (ICA), resulting in the formation of an abnormal cerebral vascular network. When MMD occurs in association with an underlying medical condition, including some distinctive genetic disorders, it is named moyamoya syndrome (MMS). The discrimination between MMD and MMS has been validated by recent genetic researches and international reviews. Similarly to patients suffering from MMD, patients with MMS generally become symptomatic because of ischemic complications, which lead to hemiparesis, transient ischemic events, seizures, and sensory symptoms. RASopathies are a group of neurodevelopmental disorders that can be associated with MMS.Results: We retrospectively reviewed 18 RASopathy patients with MMS treated at our institution from 2000 to 2015 (16 neurofibromatosis type 1, 1 Costello syndrome, and 1 Schimmelpenning syndrome). Here, we report clinical data, performed surgical procedures, and clinic-radiological outcome of these patients. Most of them received both indirect revascularization and medical therapy.Conclusions: At the moment, there are no univocal recommendations on which of these two treatment strategies is the treatment of choice in patients with RASopathies and MMS. We suggest that patients with a good overall prognosis (primarily depending on the distinctive underlying genetic disorder) and initial cerebrovascular disease could benefit from a prophylactic surgical revascularization, in order to prevent the cognitive impairment due to the progression of the vasculopathy. [ABSTRACT FROM AUTHOR]

Objective: Vascular and hemodynamic changes were not consistent in symptomatic and non-symptomatic cerebral hemisphere in patients with symptomatic moyamoya syndrome (MMS). Thus, the purpose of this study is to evaluate the hemodynamic difference between symptomatic and non-symptomatic cerebral hemisphere in patients with symptomatic MMS.Methods: Patients who were diagnosed with symptomatic MMS were retrospectively collected. All cases underwent CTP examination. Regions of interest (ROIs) were chosen in the mirroring bilateral frontal lobes, temporal lobes, the basal ganglia, and the brainstem as control region. The relative perfusion parameter values of symptomatic side were compared with non-symptomatic side.Results: Of the 40 patients, 33 patients were taken into assessment. In all cases (n = 33), rCBF, rMTT, and rTTP in all regions of interest (ROIs) of the symptomatic side were significantly different from those of contralateral side. In unilateral MMS patients (n = 7), rCBF values were not significantly different between two sides in the temporal lobe and basal ganglia area; rTTP values were significantly higher in the symptomatic side. rMTT values were significantly higher only in the temporal lobe of symptomatic side. In bilateral MMS patients (n = 26), rCBF and rMTT in all ROIs of the symptomatic side were significantly different from those of contralateral side. However, there were no significant differences between two sides in all ROIs on rTTP values.Conclusions: This study demonstrates that rCBF and rMTT were more sensitive than rTTP for evaluating hemodynamic changes in patients with symptomatic bilateral MMS. Furthermore, patients with unilateral MMS may have a preserved rCBF compared to those with bilateral disease. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate the utility of CT perfusion (CTP) for the assessment of superficial temporal artery-middle cerebral artery (STA-MCA) anastomosis in patients with Moyamoya syndrome (MMS).Subjects and Methods: Twenty-four consecutive MMS patients, who underwent unilateral STA-MCA bypass surgery, received CTP before and after surgery. The relative perfusion parameter values of surgical hemispheres before treatment were compared with post-treatment values. All patients underwent CT angiography (CTA) before and after surgery in order to confirm the patency of bypass.Results: The follow-up CTA after surgery clearly demonstrated 20 (20/24, 83.3 %) bypass arteries, whereas four (16.7 %) bypass arteries were occluded or very small. Postoperative rMTT and rTTP values (P < 0.05) of the surgical side were significantly lower than pre-operation. In patients (n = 20) with bypass patency, postoperative rCBF, rMTT and rTTP values (P < 0.05) of the surgical side were significantly improved. However, the differences of all parameters were not significant (P > 0.05) in the patients (n = 4) without bypass patency after revascularization.Conclusion: This study demonstrates that CTP can provide a crucial quantitative assessment of cerebral haemodynamic changes in MMS before and after STA-MCA anastomosis.Key Points: Twenty-four MMS patients undergoing STA-MCA bypass received CTP pre- and post-surgery. Cerebral haemodynamics improved on the surgical side post-surgery on CTP maps. rCBF might have a better correlation with patency of the bypass artery. CTP can evaluate cerebral perfusion changes in MMS patients after cerebral revascularization. [ABSTRACT FROM AUTHOR]

Background: Keutel syndrome is a rare autosomal-recessive condition characterized by abnormal cartilage calcification. Neuroimaging findings associated with this condition have been randomly described in the literature. Objective: To systematically evaluate the neuroimaging findings in a series of children with Keutel syndrome to broaden our base of knowledge. Materials and methods: Four children with confirmed Keutel syndrome were reviewed for the brain, head and neck imaging findings. Results: Three of the four children, all siblings, showed evidence of moyamoya syndrome. All four siblings had pinna cartilage calcification. Conclusion: We propose that Keutel syndrome be considered and included among the secondary causes of moyamoya syndrome. In children with petrified auricle and neurological symptoms, Keutel syndrome should be considered and brain MRI with MRA is required. [ABSTRACT FROM AUTHOR]

Introduction: Glioma and moyamoya syndrome are both potential complications of neurofibromatosis type 1 (NF1). Here, we report the first case of NF1 concomitantly presenting with glioblastoma 10 years after surgical treatment of moyamoya syndrome. Case report: A 14-year-old boy with NF1 was incidentally diagnosed by magnetic resonance imaging (MRI) with a thalamic tumor during a follow-up for moyamoya syndrome, which had been treated with surgery 10 years earlier. After observation for 36 months, he developed left hemiparesis, and MRI revealed an increase in tumor size and obstructive hydrocephalus due to the tumor. Needle biopsy was performed through small craniotomy, and the histological diagnosis was glioblastoma. After concurrent chemoradiotherapy with 23 cycles of temozolomide, partial response of the tumor was observed. However, 24 months after the start of the initial therapy, the tumor showed regrowth, and the patient died 30 months after the initial therapy. No cerebrovascular events associated with moyamoya syndrome and chemoradiotherapy were observed during the clinical course of glioblastoma. Discussion: Glioblastoma is a fatal disease in children, and our patient successfully received chemoradiotherapy with temozolomide despite the diagnoses of NF1 and moyamoya syndrome. Although radiotherapy or chemotherapy potentially causes cerebrovascular complications, chemoradiotherapy might be feasible for glioblastoma treatment in patients with moyamoya syndrome and NF1. The following issues are discussed in the management of the present case: the indication of biopsy in NF1 cases, the method of surgery, and the treatment protocol for tumors concomitant with moyamoya disease or syndrome. [ABSTRACT FROM AUTHOR]

Several studies have shown the relation between Graves' disease and stenosis/occlusion of intracranial arteries. To our knowledge, only 31 cases, including our case, of concurrent Graves' disease and moyamoya syndrome or intracranial arterial stenosis/occlusion have been described. The patients were predominantly women, and their ages ranged from 10 to 54 years (mean, 29.3 years). Transient ischemic attacks and cerebral infarction were the common symptoms in these patients. Except one previous case and the present case, all cases showed thyrotoxicity when the cerebral ischemic event occurred. Among the 29 cases, in which the treatment regimen was known, antithyroid therapy was administered in 25 cases, and surgical treatment for cerebral vessel diseases was performed in 11 cases. Most of the patients eventually recovered from the neurological symptoms after medical and/or surgical treatment; one of the patients died, and one patient's condition worsened. Although the mechanism underlying intracranial arterial occlusion or stenosis in patients with Graves' disease has not been elucidated, several hypotheses have been described. Thyroid hormones may augment vascular sensitivity to the sympathetic nervous system and induce pathological changes in the arterial walls. An immune-mediated mechanism may play a role in the pathogenesis of these diseases. Atherosclerosis may be associated with these disorders. Vasculitis induced by antithyroid drugs may cause changes in the intracranial arteries. Finally, the possibility of a mere coincidence of Graves' disease and these vascular changes should also be considered. Cerebrovascular hemodynamic changes induced by thyrotoxicosis were considered to be responsible for the cerebral ischemic events. Excessive thyroid hormone production is considered to increase the cerebral metabolism and oxygen consumption. In addition, thyrotoxicosis-induced hypercoagulability may influence ischemic events. Therefore, the possibility of thyrotoxicosis should be considered when patients with Graves' disease show exacerbation of cerebral ischemic symptoms at follow-up. The necessity of surgery in addition to antithyroid therapy might be dependent on the mechanisms of the vascular changes and symptoms. If hyperthyroidism is associated with vascular changes and symptoms, antithyroid therapy may be adequate. However, if immune-mediated mechanisms or coincidences are considered to be associated with vascular changes and symptoms, like our case, surgical procedures might be needed. [ABSTRACT FROM AUTHOR]

Stroke is an increasingly recognized cause of morbidity in the pediatric population. The incidence of ischemic stroke is 1.2 per 100,000 children. There are many known etiologies of childhood cerebral ischemia but moyamoya is one of the only ischemic conditions of childhood that can be effectively treated with surgery. Moyamoya disease is by definition idiopathic, whereas moyamoya syndrome refers to a similar disease course in conjunction with a known predisposing condition. The clinical manifestations and disease progression are similar. Furthermore, surgical treatment has been shown to be efficacious and safe in the treatment of moyamoya. [ABSTRACT FROM AUTHOR]

Keywords: LVNC; Moyamoya syndrome; Recurrent stroke EN LVNC Moyamoya syndrome Recurrent stroke 1581 1582 2 07/14/20 20200801 NES 200801 Dear Editor: We describe a case of 3-year-old right-handed boy who presented with acute onset left-sided weakness of 10-day duration; the onset of weakness was acute, not associated with seizure, vomiting, fever, or trauma. Index child has two co-existing conditions predisposing to recurrent stroke moyamoya syndrome and LVNC. References 1 Burn J, Dennis M, Bamford J, Sandercock P, Wade D, Warlow C. Long-term risk of recurrent stroke after a first-ever stroke: the Oxfordshire community stroke project. [Extracted from the article]

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To date, intracranial aneurysms have been reported in two patients with Noonan syndrome. We report two unrelated patients with Noonan syndrome who presented with sub-arachnoid haemorrhage secondary to intracranial aneurysms. These cases are discussed and other cerebrovascular abnormalities that have been described in association with Noonan syndrome are reviewed. Ultrastructural and genetic factors contributing to these associations are considered. [ABSTRACT FROM AUTHOR]

Objectives. To present our clinical experience in terms of disease presentation and choice of revascularisation procedure in our first group of 23 European Moyamoya angiopathy (disease and syndrome) patients. Method and patient selection. Twenty three patients were diagnosed and treated from 1997–2001 in our neurosurgical department. All patients underwent preoperative angiography, colour Doppler examination, cranial MRI and/or CT scans, HMPAO-SPECT or H215O PET (baseline and Diamox challenge) scans. Nineteen patients presented with child-juvenile Moyamoya angiopathy with an average age at presentation of 8 years (range 1–17 years), in 4 patients adult Moyamoya was diagnosed with a mean age at presentation of 34 years (range 23–40 years). Results. In all but one patient bilateral affection was present at the time of diagnosis. All patients underwent direct and/or additional indirect revascularisation procedures. Twenty-one patients underwent bilateral revascularisation procedures. In two patients a unilateral procedure was performed. A direct STA-MCA bypass (superficial temporal artery branch – middle cerebral artery branch anastomosis) was performed in all patients. Additional direct STA-ACA bypass (STA – anterior cerebral artery branch anastomosis) was performed in 10 patients. Indirect arteriosynangiosis using the occipital artery was performed in the posterior cerebral artery (PCA) territory in 3 patients. The frontal branch of the STA was used for arteriosynangiosis in the frontal region in another 2 patients. Indirect frontal durasynangiosis was performed in 14 patients. The number and location of multiple revascularisation procedures was determined according to the angiographic findings as well as the site of decreased perfusion reserves seen on H215O PET. A one stage revascularisation procedure was performed in 7 patients. Fourteen patients underwent two stage procedures. Following operation no complications were encountered in all but one adult patient who died postoperatively due to a massive middle cerebral artery infarct on the nonoperated side. Conclusions. As territorial hemodynamic disorder seems to be a characteristic in Moyamoya disease and/or syndrome, judging from our experience with European patients in our series, and several reports hitherto, treatment with multiple revascularisation procedures is considered to be justified. [ABSTRACT FROM AUTHOR]

Cerebrovascular arterial occlusion is a rare but devastating event causing long-term morbidity in children with tumors in the parasellar region. While usually associated with radiation therapy, there are a variety of host, tumor and treatment factors which predispose patients to significant vasculopathy. Case reports of 5 patients from St. Jude Children's Research Hospital with tumors in the parasellar region who presented with or developed vascular occlusive disease are summarized. Multiple factors are identified in these cases which probably impacted on the development of cerebral arterial occlusion with or without moyamoya syndrome. These include, but are not limited to, neurofibromatosis, tumor encasement of major cerebral vessels, surgical alterations, and radiation therapy. The literature supports multiple, potentially interactive etiologies for the development of vascular events in these patients, suggesting that their development is not simply a phenomenon related to radiation therapy. [ABSTRACT FROM AUTHOR]

Moyamoya syndrome-specific alterations of EEG recordings are only observed in children. These consist of a gradual frequency decrease and amplitude activation after hyperventilation. This is referred to as re-build-up phenomenon. Thus, a tentative diagnosis of Moyamoya syndrome in children can be based on the EEG finding. This should be radiologically confirmed by angiography. [ABSTRACT FROM AUTHOR]