Search

Moyamoya syndrome (MMS) is a rare, chronic progressive cerebrovascular occlusive disease that is characterized by a stenosis or occlusion of the bilateral internal carotid arteries and the circle of Willis arteries leading to the development of collateral vessels as visualized by cerebral angiography. We report a case of a 24-year-old woman with nephrotic syndrome whose biopsy showed membranous nephropathy. Ten months after the diagnosis she suffered sudden right hemiplegia and seizure. She was diagnosed with MMS by angiogram seven months ago and received decompressive craniotomy. The patient was admitted to our hospital and a diagnosis of systemic lupus erythematosus (SLE) was made. Glucocorticoids and tacrolimus were used to control the symptoms of SLE. Following one month of immunosuppressant treatment, the patient died of brain hemorrhage. This case alongside another six reviewed cases shows that an underlying cerebrovascular lesion of moyamoya in the vessels of patients with SLE is susceptible to cerebrovascular accidents. [ABSTRACT FROM AUTHOR]

Mutations in the smooth muscle–specific isoform of α-actin (ACTA2) cause vascular smooth muscle dysfunction leading to aortic aneurysm and moyamoya syndrome. A unique R179H mutation in ACTA2 has been reported to result in widespread smooth muscle dysfunction affecting vascular and extravascular smooth muscles. We report a 7-year-old girl with an ACTA2 R179H mutation manifesting with neonatal seizures due to multifocal infarcts, asymmetric motor deficits, global developmental delay, spasticity, congenital bilateral mydriasis, and a large patent ductus arteriosus. Serial magnetic resonance imaging (MRI) of the brain over 7 years showed diffuse supratentorial white matter abnormalities consistent with a progressive leukoencephalopathy. Magnetic resonance angiography of the cerebral vessels showed stenosis in the terminal portion of the bilateral internal carotid arteries with fusiform dilation of the proximal segment. Neonatal onset of neurologic symptoms in ACTA2 mutations has not been previously reported. R179H mutation in ACTA2 represents the severe end of the disease spectrum. [ABSTRACT FROM AUTHOR]

The article describes two fatal cases of moyamoya disease associated with pediatric pulmonary arterial hypertension (PAH) that had been diagnosed before the presentation of neurological symptoms. The first case involves a 14-year-old girl who presented with transient left hemiparesis and died due to brain herniation. The second case involves a 2-year-old boy who developed a minor stroke and died due to deterioration of his pneumonia and cardiopulmonary failure.

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]

Background: Sickle cell disease (SCD) is autosomal recessive hemolytic anemia due to hemoglobinopathy commonly in Sub-Saharan Africa, and particularly in Sudan. The disease induces a pro-inflammatory cascade in the intimal layer that leads to hyperplasia and progressive stenosis in the major vessel of the circle of Willis. This is associated with the development of Moyamoya collaterals. The aim of this study is to highlight the frequency of Moyamoya syndrome in Sudanese pediatric patients with sickle cell disease presenting with stroke., Materials and Methods: A descriptive cross-sectional hospital-based study was conducted in the Department of Hematology at Gaafar Ibnauf Pediatric Tertiary Hospital in Khartoum state in Sudan, in the period between March 2021 and August 2021. Secondary data has been collected from the medical record after ethical approval and informed consent., Results: A total of 104 patients were included in the study. The males were the majority, about 60 (57.7) compared to 44 (42.3%) females. More than half of our study population was in the school-age 54 compared to 42 adolescents and only 8 patients of preschool age. Only 50 out of 104 patients had diagnostic MRA which revealed features of Moyamoya syndrome in 48 (96%) patients. Motor weakness (100%), aphasia (52.9%), and facial palsy (35%) were the major stroke presentations. The left anterior circulation territory was the most common site of moyamoya features involvement in 31 patients out of 48., Conclusion: Stroke is a common problem in Sudanese pediatric patients with sickle cell disease, with a very high frequency of Moyamoya vasculopathy among patients with stroke presentation. The burden of Moyamoya syndrome in Sudanese pediatric patients with sickle cell disease is underestimated due to the cost of the available screening and diagnostic tools., Competing Interests: The authors declare no conflict of interest of any kind., (© 2022 The Authors.)

Potentially harmful effects of irradiation on the developing central nervous system have been well documented. We report 2 pediatric patients with moyamoya syndrome developed after irradiation. Case: A 3-year-old girl had received 4,860 cGy of postoperative radiation for optic pathway glioma. Cerebral angiography 7 months after completion of the radiation therapy revealed progressive cerebral arterial occlusive disease, involving the internal carotid artery on either side of the circle of Willis, with abnormal netlike vessels. Another 5-year-old girl had received 3,600 cGy of postoperative radiation on the cerebrum for a medulloblastoma. Two years later, she was diagnosed with moyamoya syndrome and treated with indirect revascularization. She died due to further progressive obstruction of the right M1 and A1 on the unoperated hemisphere, in spite of well-developed collateral circulation from the superficial temporal artery and middle meningeal artery on the operated left hemisphere. We suggest that radiation therapy with portals typically including carotid siphon may particularly cause vascular damage, regardless of the tumor pathology and lead to radiation-induced moyamoya syndrome. The prognosis may be poorer in case of poor collateral flow and rapid progression. The radiation therapy may cause fatal vascular damage so it should be taken into consideration when a treatment plan is being formulated for young patients. Copyright © 2011 S. Karger AG, Basel [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]

Abstract: Moyamoya disease is an uncommon cerebrovascular disease characterized by progressive steno-occlusive changes in the terminal internal carotid arteries (ICA) and their main branches, associated with the development of moyamoya vessels. The incidence of the disease is high in east Asia, especially in Japan and Korea. The familial form accounts for 10–15%. Moyamoya disease has two age distribution peaks at around 5 and 40years. Most pediatric patients exhibit transient ischemic attacks or infarction. Headache and involuntary movements are serious symptoms associated with pediatric moyamoya disease. MRI and MR angiography (MRA) are useful and non-invasive methods for diagnosing or monitoring moyamoya disease. Cerebral angiography is still the gold standard for a diagnosis, however, it is not mandatory when MRI and MRA show typical findings of moyamoya disease; steno-occlusive changes at the ends of ICA and an abnormal vascular network in the basal ganglia. Other MRI findings have been reported, including T2 shortening in the white matter, the ivy sign on fluid-attenuated inversion recovery (FLAIR) images, and medullary streaks on FLAIR or enhanced T1-weighted images. [Copyright &y& Elsevier]

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]

Moyamoya vasculopathy is a progressive, occlusive vasculopathy leading to ischemic and hemorrhagic strokes. No treatments are established to treat acute ischemic stroke with moyamoya vasculopathy. A 3-year-old girl with moyamoya syndrome developed acute left hemiplegia. Emergent angiography showed near-occlusion of the supraclinoid segment of the right internal carotid artery. Balloon angioplasty was performed within 6 hours of symptom onset, with significant improvement in the child’s neurological symptoms. This is the youngest case of intracranial balloon angioplasty, and this article discusses the paucity of data regarding angioplasty and other forms of endovascular intervention in pediatric cerebrovascular disease and moyamoya vasculopathy. Further study is needed to determine the safety and efficacy of endovascular intervention in these diseases. [ABSTRACT FROM PUBLISHER]

Direct surgical clipping proves to be difficult and dangerous for intracranial aneurysms associated with moyamoya disease (MMD) or moyamoya syndrome (MMS). This study presents our clinical experience of endovascular embolization of intracranial aneurysms associated with these diseases. A total of 13 cases of intracranial aneurysms associated with MMD or MMS were treated by endovascular embolization between January 2001 and January 2009. Patients were divided into two groups: a saccular aneurysm group (n=10) and a pseudoaneurysm group (n=3). Different endovascular therapeutic strategies were employed for each type of case. Of the 13 cases, 11 received successful endovascular embolization and had an uneventful post-operative course during one to two years of follow-up. However, endovascular embolization failed in the other two cases, of whom one died from rebleeding after the five-month follow-up, while the other was conservatively treated and experienced no rebleeding during the two-year follow-up. A favorable prognosis may be secured through careful selection of endovascular treatment regimens for patients with intracranial aneurysms associated with MMD or MMS according to the site of intracranial aneurysms. [ABSTRACT FROM AUTHOR]

We report an unusual association of pulmonary tuberculosis with moyamoya syndrome in a 30-year-old Filipino female who was admitted to our hospital with a 1-week history of fever and cough. Chest X-ray showed widespread bilateral consolidation with cavity, whereas sputum was positive for acid fast bacilli (AFB). Two weeks after starting antituberculous treatment, the patient developed two episodes of loss of consciousness, which were unwitnessed. Urgent brain computed tomography (CT) showed multiple infarctions, suggesting vasculitis. The electroencephalogram showed epileptic discharges. Magnetic resonance angiography showed a picture consistent with moyamoya disease. Brain CT angiography was performed and it showed the same pictures. The patient was diagnosed with pulmonary tuberculosis-associated moyamoya syndrome. On the following days, she was discharged on antituberculous medications, antiepileptic and oral hypoglycemic treatment. After 1 year, the patient was seen in the clinic, she was well and seizure-free. [ABSTRACT FROM AUTHOR]

Abstract: Moyamoya syndrome and cerebral aneurysm formation are rare cerebrovascular manifestations of Alagille syndrome. Although previously reported in isolation, occurrence of these complications in a single patient has not been described. We report clinical and imaging features of synchronous moyamoya syndrome and ruptured cerebral aneurysm in a patient with Alagille syndrome. [Copyright &y& Elsevier]

Background: Patients with major cerebral artery steno-occlusion and the formation of the moyamoya-like vessels associated with some other disorders have been distinguished from moyamoya disease and classified as moyamoya syndrome. The hemodynamic and metabolic backgrounds of the moyamoya syndrome associated with atherosclerosis have not yet been investigated. We aimed to elucidate the hemodynamic and metabolic characteristics associated with the development of basal moyamoya-like vessels in moyamoya syndrome with atherosclerosis. Methods: Twenty-one patients with chronic unilateral atherosclerotic steno-occlusive lesions of the internal carotid artery or middle cerebral artery (MCA) were enrolled in the study. Based on the angiographic findings, the patients were classified into 2 groups: the moyamoya syndrome group (n = 7) and the non-moyamoya-syndrome group (n = 14). We conducted angiographic evaluations of the extent of the development of basal moyamoya-like vessels in the moyamoya syndrome group. The cerebral blood flow, cerebral metabolic rate of oxygen, oxygen extraction fraction (OEF) and cerebral blood volume were measured using PET in the ipsilateral MCA area in the patients and in normal controls (n = 6). Results: The OEF in the ipsilateral MCA area, except in the basal ganglia, was significantly higher in the moyamoya syndrome group than in the non-moyamoya-syndrome group (p < 0.001). The extent of the development of basal moyamoya-like vessels was closely correlated with the elevation of the OEF (r > 0.999, p < 0.001). Conclusion: The basal moyamoya-like vessels are evidence of misery perfusion in patients with unilateral chronic atherosclerotic steno-occlusive lesions of major cerebral artery trunks. Copyright © 2008 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Moyamoya disease is a rare, progressive cerebrovascular disorder that is characterized by a stenosis or occlusion of the bilateral internal carotid arteries and the development of collateral vessels. Transient ischemic attacks or seizures are the usual presentation of moyamoya disease in children, whereas cerebral hemorrhage is the most common symptom in adults. We report an 18-year-old female patient with active lupus nephritis who presented with the sudden onset of left hemiparesis. Brain magnetic resonance imaging showed acute infarctions in the right basal ganglia and subcortical white matter of the right frontal lobe. Cerebral angiography showed the stenosis of the bilateral internal carotid arteries with rich basal collateral vessels (moyamoya vessels). There was no evidence of atherosclerosis or antiphospholipid syndrome. Glucocorticoid therapy was used to control the systemic lupus erythematosus. Prophylactic bypass surgery was performed to prevent recurrent ischemic attacks. This case report shows that an underlying cerebrovascular lesion of moyamoya vessels in a patient with systemic lupus erythematosus is susceptible to cerebrovascular accidents. [ABSTRACT FROM AUTHOR]

• Unilateral leg freezing is a rare movement disorder phenomenology. • Our patient has unilateral leg freezing in light of moyamoya syndrome. • This report expands movement disorder phenomenology in moyamoya vasculopathy. [ABSTRACT FROM AUTHOR]

Abstract: Moyamoya syndrome has been rarely associated with Down syndrome. In pediatric patients, the usual presentation is the ischemic stroke. We report a 8 year old girl with Down syndrome and Moyamoya syndrome, who presented with focal seizure and acute left onset hemiparesis. The aim of this study is to describe the clinical and radiological features of the patient, the managment and the possible causes that could explain these two syndrome''s associations have been reviewed. [Copyright &y& Elsevier]

Copyright of Der Ophthalmologe is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Purpose: The moyamoya syndrome is an uncommon late complication after radiotherapy (RT). Methods and Materials: A PubMed search of English-language articles, with radiation, radiotherapy, and moyamoya syndrome used as search key words, yielded 33 articles from 1967 to 2002. Results: The series included 54 patients with a median age at initial RT of 3.8 years (range, 0.4 to 47). Age at RT was less than 5 years in 56.3%, 5 to 10 years in 22.9%, 11 to 20 years in 8.3%, 21 to 30 years in 6.3%, 31 to 40 years in 2.1%, and 41 to 50 years in 4.2%. Fourteen of 54 patients (25.9%) were diagnosed with neurofibromatosis type 1 (NF-1). The most common tumor treated with RT was low-grade glioma in 37 tumors (68.5%) of which 29 were optic-pathway glioma. The average RT dose was 46.5 Gy (range, 22–120 Gy). For NF-1–positive patients, the average RT dose was 46.5 Gy, and for NF-1–negative patients, it was 58.1 Gy. The median latent period for development of moyamoya syndrome was 40 months after RT (range, 4–240). Radiation-induced moyamoya syndrome occurred in 27.7% of patients by 2 years, 53.2% of patients by 4 years, 74.5% of patients by 6 years, and 95.7% of patients by 12 years after RT. Conclusions: Patients who received RT to the parasellar region at a young age (<5 years) are the most susceptible to moyamoya syndrome. The incidence for moyamoya syndrome continues to increase with time, with half of cases occurring within 4 years of RT and 95% of cases occurring within 12 years. Patients with NF-1 have a lower radiation-dose threshold for development of moyamoya syndrome. [Copyright &y& Elsevier]

Background: Moyamoya disease (MMD), or spontaneous occlusion of blood vessels in the circle of Willis, is a noninflammatory, nonatheromatous vasculopathy that often presents with ischemia or hemorrhage and has a tendency to affect young women. We discuss a case of a woman 7 days postpartum with new onset strokes, suspected initially to have benign angiopathy of the central nervous system (BACNS)/postpartum angiopathy versus primary CNS vasculitis. Cerebral angiography was suspicious for MMD and the patient underwent surgical revascularization. Objectives: To review the epidemiology, presentation, diagnosis, differential diagnosis, treatment, prognosis, and postpartum maternal outcomes of MMD. Methods: The authors reviewed the English-language literature published between 1996 and 2004 using Medline databases. Additional articles were obtained from references described in literature obtained by the primary search. Results: MMD is characterized by severe bilateral stenosis of the distal internal carotid arteries and their first branches, with prominent collateralization. Autoantibodies relating to endothelial cell dysfunction have been studied as possible pathogenetic mechanisms. The gold standard for diagnosing MMD is digital subtraction contrast angiography (DSA). MMD-related findings on imaging studies may, at times, be mistaken for those of vasculitis. A surgical approach may need to be considered. Despite treatment, the overall prognosis of MMD is worse in adults compared with children. Conclusion: Awareness of the specific features of MMD is crucial for clinical decision-making to avoid unnecessary exposure to aggressive immunosuppressive therapy. It is important for rheumatologists to consider MMD in the differential diagnosis of suspected CNS vasculitis. [Copyright &y& Elsevier]

Presents the table of contents for the November 2005 issue of the online section of the journal "Pediatrics."

Abstract: We describe a 54-year-old woman exhibiting MMS who developed delayed dural sinus thrombosis associated with PCD. Angiographic findings of the patient were so unusual that bilateral internal carotid arteries were occluded between their origin and the carotid fork with extensive development of collateral circulation via the external carotid arteries and the posterior cerebral arteries instead of moyamoya vessels at the base of the brain. Seven years after bilateral cerebral revascularization surgery, intracerebral hemorrhage occurred caused by dural sinus thrombosis. In the treatment for the patient with MMS associated with PCD, risk of sinus thrombosis should be taken into account. [Copyright &y& Elsevier]

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]

A 9-year-old boy presented with an episode of syncope, and MR imaging revealed bilateral internal carotid artery stenosis with moyamoya vessel formation. He had had prophylactic cranial irradiation at a total dose of 24 Gy for the treatment of acute lymphocytic leukemia at the age of 4. Following this, he was in a complete state of remission for 6 years. During an observation period of a year after the onset of syncope, MR imaging showed development of multiple ischemic lesions in both hemispheres. He developed a transient ischemic attack of mild motor weakness in his arm and an indirect anastomosis was performed on the severely affected side at the age of 10. Radiation-induced vasculopathies are known to be associated with primary diseases of intracranial tumors, but the frequency is unclear. Ours is the third case in whom prophylactic cranial irradiation for a hematological disorder might have induced cerebral vasculopathies. [ABSTRACT FROM AUTHOR]

Moyamoya syndrome has occasionally been seen in association with Down syndrome. We report a child with moyamoya syndrome and Down syndrome who was admitted with repeated episodes of strokes; his magnetic resonance imaging and magnetic resonance angiography findings confirmed the presence of occlusive cerebrovascular disease with basal collateral vessels. His protein C levels were significantly decreased during the stroke. Complete clinical recovery was seen during follow-up. This raises the possibility of a link between protein C deficiency and Down syndrome with moyamoya syndrome. [Copyright &y& Elsevier]

We reported a patient with cardio-facio-cutaneous (CFC) syndrome associated with moyamoya syndrome. The patient was referred at 6 years 5 months with left hemiplegia and right-sided eye deviation. He had an apparently short stature, macrocephaly, left ptosis and atopic skin, and was odd looking. He exhibited an incomplete right bundle branch block on electrocardiogram and an atrial septal defect on ultrasound cardiography. He was diagnosed as having CFC syndrome. Head magnetic resonance imaging showed a flow void in the bilateral basal ganglia, but did not show any ischemic changes. Magnetic resonance angiography showed bilateral stenosis with an internal carotid artery at the Willis artery ring level and bilateral moyamoya. Contrast angiography demonstrated occlusion of both middle cerebral arteries. Cerebrovascular anomalies have not previously been reported in CFC syndrome. This is the first case of CFC syndrome associated with moyamoya syndrome. [Copyright &y& Elsevier]

Moyamoya disease is an uncommon clinical entity, characterized by bilateral occlusion of the internal carotid artery and the development of collateral arteries. An 18-year-old Saudi male with systemic lupus erythematosus (SLE) presented with mild right hemiparesis, followed by recurrent ischemic stroke. Cerebral angiography showed bilateral internal carotid artery stenosis associated with the development of collateral circulation (moyamoya vessels). There was no evidence of active SLE or other risk factors for cerebral occlusion, such as antiphospholipid antibody syndrome. Medical and surgical interventions did not influence the poor outcome of the recurrent ischemic insults. Lupus (2000) 9, 632–636. [ABSTRACT FROM AUTHOR]

Introduction: Moyamoya angiopathy (MMA) is a chronic, progressive intracranial vasculopathy with variation in prevalence and clinical manifestations across different populations. This study was aimed to estimate the frequency of MMA as an etiology of stroke and its epidemiological features in the largest cohort of MMA patients in India., Method: A single-centered cross-sectional observational study over a period of 5 years (2016-2021) was undertaken among consecutive stroke and transient ischemic attack (TIA) patients to look for the presence of MMA angiographically. Each patient with angiographically proven MMA was further evaluated for demographic, clinical, and radiological characteristics., Results: Among 10,250 consecutive stroke and TIA patients (ischemic = 78%, hemorrhagic = 22%), frequency of MMA was 1.56% ( n = 160); 15.3% among children. Female preponderance (Male:Female = 1:1.4) was noted among 160 MMA patients, with bimodal age distribution, first peak at 3-8 years, and a shorter second peak at 41-47 years. Childhood-onset MMA was seen in 75 (46.9%) with commonest initial neurological symptom of fixed-motor-weakness (44.0%), followed by TIA (26.7%); while 85 (53.1%) had adult-onset MMA with fixed-motor-weakness (50.6%) followed by headache (24.7%) as the predominant initial neurological symptom; seizure significantly higher in children ( p < 0.001) and headache in adults ( p = 0.012). Transient and fixed neurological manifestations constituted 87.5 and 69.4% respectively, of symptoms throughout the disease course. Cerebral infarction (45.0%) and TIA (21.9%) were the commonest types of MMA. On brain imaging, infarction was noted in 80.6%, hemorrhage in 11.3%, significantly higher among adults ( p < 0.001). Cortical infarct and Gyral pattern were commoner in children ( p = 0.004), subcortical infarcts in adults ( p = 0.018). Frequent Suzuki staging observed was stage 4 (31.3%), followed by stage 3 (30.0%). Involvement of posterior circulation was detected in 55.6%, brain atrophy at the time of diagnosis was seen in 65.0%., Conclusion: MMA is an important etiological consideration in patients with stroke, especially in children. It can present with a myriad of transient neurological symptoms, frequently overlooked, leading to delayed diagnosis, and contributing to socio-economic burden. Indian MMA showed aberrations in its gender predisposition, age distribution, frequency of familial cases, disease manifestation, and type of stroke, in comparison to its Japanese and Caucasian counterparts pointing to the inter- and intra-continent differences of MMA phenotype. Future development of the Indian MMA national registry is of essence., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Das, Dubey, Das, Hazra, Pandit, Ghosh and Ray.)

In moyamoya disease, the progressive occlusion of the distal portion of the internal carotid artery and its major branches is typically responsible for the formation of an extensive network of collateral vessels at the base of the brain. When moyamoya collateral network develops in association with various systemic or acquired diseases, the term moyamoya syndrome is used to denote this phenomenon. Sudden changes in the supraclinoid internal carotid artery and middle cerebral artery can be recognized with noninvasive neurovascular imaging techniques, which also allow a differential diagnosis with similar diseases such as degenerative steno-occlusive disease, cerebral vasculitis, and twig-like middle cerebral artery. Once the diagnosis is established, the definitive treatment for moyamoya disease is surgical revascularization, with the goal of increasing cerebral blood flow and preventing recurrent stroke. We provide a comprehensive review of the clinical and radiologic features in moyamoya vasculopathy along with its surgical management., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Moyamoya angiopathy (MMA) is a peculiar cerebrovascular condition characterized by progressive steno-occlusion of the terminal part of the internal carotid arteries (ICAs) and their proximal branches, associated with the development of a network of fragile collateral vessels at the base of the brain. The diagnosis is essentially made by radiological angiographic techniques. MMA is often idiopathic (moyamoya disease-MMD); conversely, it can be associated with acquired or hereditary conditions (moyamoya Syndrome-MMS); however, the pathophysiology underlying either MMD or MMS has not been fully elucidated to date, and this poor knowledge reflects uncertainties and heterogeneity in patient management. MMD and MMS also have similar clinical expressions, including, above all, ischemic and hemorrhagic strokes, then headaches, seizures, cognitive impairment, and movement disorders. The available treatment strategies are currently shared between idiopathic MMD and MMS, including pharmacological and surgical stroke prevention treatments and symptomatic drugs. No pharmacological treatment able to reverse the progressive disappearance of the ICAs has been found to date in both idiopathic and syndromic cases. Antithrombotic agents are usually prescribed in ischemic MMA, although the coexisting hemorrhagic risk should be considered. Surgical revascularization techniques, which are currently the best available treatment in symptomatic MMA, are associated with good long-term outcomes and reduced ischemic and hemorrhagic risks. Given the lack of dedicated randomized clinical trials, current treatment is mainly based on observational studies and physicians' and surgeons' expertise. [ABSTRACT FROM AUTHOR]

Moyamoya syndrome is a unique progressive occlusive cerebrovascular disease that predisposes affected patients to stroke. We describe the case of a 2-year-old girl presenting with early onset of moyamoya syndrome with concurrent Down syndrome. Genetic testing revealed a heterozygous missense variant of RNF213 . RNF213 was recently identified as the first susceptibility gene for moyamoya disease in patients with no known associated risk factors. The reported median age at the onset of idiopathic moyamoya disease with a heterozygous RNF213 risk variant is 7 years, while, the average age at onset of moyamoya syndrome in Down syndrome is 7–16 years. Down syndrome and RNF213 variant contribute to the development of moyamoya vasculopathy in different ways. Although the underlying mechanism is not fully understood, an additive effect was observed with the early-onset seen in this patient. Little is known about the potential association between RNF213 and moyamoya syndrome. Based on these observations, we hypothesize that the RNF213 risk variant has a modifier effect in steno-occlusive vasculopathy, even in medical conditions known to be associated with moyamoya syndrome. [ABSTRACT FROM AUTHOR]

Zhen Wang and Zhenqiang Fu contributed equally to this report.Moyamoya syndrome is a term applied to typical moyamoya vasculopathy with well-recognized associated conditions. Several systematic studies on the entities of moyamoya syndrome with autoimmune disease have been reported. We report a case of moyamoya syndrome with antiphospholipid antibodies and provide a review of relevant cases from the literature, describing the clinical characteristics and treatments. [ABSTRACT FROM AUTHOR]