Cardio-facio-cutaneous syndrome and moyamoya syndrome

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.     

Are the strokes in moyamoya syndrome associated with Down syndrome due to protein C deficiency?

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.     

Moyamoya disease in children A review of the clinical and radiological features and current treatment

Two cases of moyamoya disease observed in two children are reported. The two cases recall the frequency of ischemic strokes, transient ischemic attacks, and seizures revealing the disease. Diagnosis is made by cerebral arteriography showing carotid stenosis and the dense deep arterial collateral as seen in these two cases. Magnetic resonance imaging makes it possible to identify this vascular disease as it reveals vascular varicosities in the basal ganglia, as in case 1. Strokes can sometimes be prevented by constructing an anastomosis between the superficial temporal artery and the middle cerebral artery, as demonstrated in case 1. Thus, the diagnosis of moyamoya disease has been improved by magnetic resonance imaging and there is now a surgical treatment to prevent ischemic stroke.     

甲状腺功能亢进症合并烟雾综合征

目的 分析和探讨经颅多普勒超声（TCD）筛查的甲状腺功能亢进症（甲亢）合并烟雾综合征的临床和 血管病变特征。 方法 总结北京协和医院和解放军307医院2000～2007年经TCD筛查诊断烟雾综合征患者13例，8例经 磁共振血管成像（MRA）、5例经数字减影血管造影（DSA）明确诊断；所有患者经协和医院内分泌科确 诊为甲亢，且甲状腺球蛋白抗体（TGAb）和髓过氧化物酶抗体（TPOAb）高，除外血管狭窄的其他常见 原因。 结果 13例患者中，男1例，女12例；11例表现为缺血性卒中（2例合并不自主运动），1例仅表现为不自 主运动，1例以头晕为临床主诉，后2例经TCD筛查发现血管狭窄。血管病变分布：11例为典型的颈内动脉 终末端（TICA）、大脑中动脉（MCA）、大脑前动脉（ACA）狭窄或闭塞，1例为颈内动脉虹吸段狭窄，1例 为双侧颈内动脉起始严重狭窄或闭塞。2例患者同时合并大脑后动脉（PCA）狭窄。随访发现，1例患者因 甲亢控制不佳复查TCD血管病变加重；而1例甲状腺功能稳定，缺血临床症状明显改善。4例患者行颞浅 动脉－大脑中动脉（MCA）血管融通术，术后缺血发作减少。 结论 TCD的临床应用使越来越多的甲亢合并烟雾综合征得以诊断；烟雾综合征患者常规行甲状腺 功能筛查十分必要；血管成形术可能是预防缺血性卒中的有效方法之一。     

Pediatric moyamoya disease presenting with intracerebral hemorrhage--report of three cases and review of the literature

Intracerebral hemorrhage in patients with moyamoya disease is rare in children. We report three unique cases of pediatric moyamoya disease with hemorrhagic onset. Two 7-year-old girls and a 9-year-old girl were admitted to our hospital because of intracerebral hemorrhage associated with angiographically verified moyamoya disease. Two of them did not demonstrate either an ischemic episode or cerebral infarct on the magnetic resonance images. A decreased regional cerebral blood flow was revealed on single photon emission computed tomography in two patients, who developed cerebral infarction in the acute stage following hemorrhage. They underwent superficial temporal artery-middle cerebral artery anastomoses combined with encephalo-myo-synangiosis, and have not experienced any further ischemic episodes thereafter. Hemodynamic insufficiency associated with moyamoya disease could cause intracerebral hemorrhage even in children. Adequate management in the acute stage of hemorrhage and revascularization surgery are recommended to prevent cerebral infarction, which may easily occur in pediatric patients with moyamoya disease.     

Moyamoya Syndrome: A Window of Moyamoya Disease

Moyamoya-like vasculopathy develops in association with various systemic diseases and conditions, which is termed moyamoya syndrome. Relatively common diseases and conditions are related to moyamoya syndrome, including neurofibromatosis type 1, Down syndrome, thyroid disease, and cranial irradiation. Moyamoya syndrome shares phenotypical characteristics with idiopathic moyamoya disease. However, they differ in other details, including clinical presentations, natural history, and treatment considerations. The study of moyamoya syndrome can provide clinicians and researchers with valuable knowledge and insight. Although it is infrequently encountered in clinical practice, moyamoya-like vasculopathy can severely complicate outcomes for patients with various underlying diseases when the clinician fails to expect or diagnose moyamoya syndrome development. Furthermore, moyamoya syndrome could be used as a doorway to more enigmatic moyamoya disease in research. More comprehensive survey and investigation are required to uncover the secrets of all the moyamoya-like phenomena.     

Cerebral occlusive artery disease in Noonan syndrome

Noonan syndrome is an autosomal-dominant inherited syndrome with variable expression of multiple malformations including cardiovascular and craniofacial anomalies. While cerebrovascular insults due to cardiogenic emboli, coagulation abnormalities or cerebrovascular malformations have been documented before, intracerebral occlusive artery disease is not well recognized as a cause of stroke in this syndrome. A 6-year-old girl with Noonan syndrome presented with repetitive transient ischemic attacks consisting of dysphasia and right-sided central facial and arm weakness. Neuroimaging showed acute ischemic lesions in the left putamen and caudate nucleus. Multiple intracranial stenoses were found during transcranial Doppler examination and MR angiography. Although hypertrophic cardiomyopathy was documented by transesophageal echocardiography, a cardioembolic origin of the ischemic attacks was unlikely in this case. The symptoms resolved and did not recur after antiplatelet and anticoagulant therapy was initiated. Stenoses of intracranial cerebral arteries should be considered among the causes of stroke in young patients with Noonan syndrome.     

Usefulness of carotid duplex ultrasonography in a patient with moyamoya disease]

The patient is a 35-year-old man who had a medical history of epilepsy in childhood. He came to our hospital because of transient disturbance of consciousness and left hemiplegia just after evacuation. At first, we thought that he had epilepsy with Todd's palsy. But we had to do a differential diagnosis for a transient ischemic attack such as paradoxical embolism, because his symptoms occurred just after evacuation. An electroencephalogram and brain computerized tomography were immediately performed, but no abnormality was detected. Hematologic studies were normal, and no deep vein thrombosis was detected in the veins of the lower extremities by duplex ultrasonography Doppler. But carotid duplex ultrasonography showed an increase in end-diastolic flow velocity and a decrease in vascular resistance in both external carotid arteries. These findings indicated that there was arteriovenous malformation such as moyamoya disease. Brain magnetic resonance imaging showed spotty high signal lesions in the subcortical areas on a fluid-attenuated inversion-recovery(FLAIR) image, and the middle cerebral artery was not visualized on magnetic resonance angiography (MRA). Cerebral angiography demonstrated moyamoya vessels in the brain and collateral circulation from the external carotid artery. Therefore, we diagnosed him as having moyamoya disease. Duplex ultrasonography of the common and, internal carotid, and vertebral arteries is a widely-used technique. Recently, cerebral angiography, MRA and transcranial Doppler have been applied to detect intracranial vascular malformation. But these results suggested that moyamoya disease could be detected by means of carotid duplex ultrasonography. Finally, we considered that carotid duplex ultrasonography was not only a noninvasive screening method but also a useful for the diagnosis of moyamoya disease.     

Moyamoya syndrome with spherocytosis: effect of splenectomy on strokes

A 3-year-old male patient with hereditary spherocytosis who developed moyamoya syndrome, presenting hemiplegia, and slurred speech is reported. Transient ischemic attacks occurred repeatedly with hemolytic crises. Magnetic resonance imaging and angiography revealed bilateral occlusion of the internal carotid and middle cerebral arteries with the formation of moyamoya vessels and multiple infarctions in the basal ganglia. Although splenectomy can increase the risk of stroke, no stroke occurred after splenectomy. On aspirin and dipyridamole therapy the patient has been free of neurologic deficits and progression of the vasculopathy for 5 years. This rare observation suggests that anemic hypoxia more greatly contributes to the progression of moyamoya syndrome than postsplenectomy thrombocytosis or reduced deformability of spherocytes.     

Intraventricular Hemorrhage Long after Successful Encephaloduroarterio Synangiosis in Moyamoya Patient

Intraventricular hemorrhage long after successful encephaloduroarterio synangiosis (EDAS) is very rare. The effect of revascularization surgery for preventing hemorrhagic event of moyamoya disease remains controversial. We report a 17-year-old female with intracerebral hemorrhage and intraventricular hemorrahge 10 years after successful EDAS. Even though cerebral vessels angiography showed good collateral circulations without specific weak points, a cerebral hemorrhage could occur in patient with ischemic type of moyamoya disease long after successful indirect bypass operations. Good collateralization of cerebral angiography or magnetic resonance perfusion image after indirect bypass surgery would ensure against ischemic symptoms, not a hemorrhage. And, thus a life-time follow-up strategy might be necessary even if a good collateral circulation has been established.     

甲状腺功能亢进与moyamoya综合征的研究进展

与moyamoya病相比,moyamoya综合征尚未形成典型的异常血管网,moyamoya综合征中颅内 动脉狭窄可能是moyamoya病的一个亚型或早期表现,且与moyamoya病存在相同的病理生理学机制。甲 状腺功能亢进相关的moyamoya综合征的病理生理学机制包括自身免疫性破坏、血流动力学异常、动脉 粥样硬化及交感神经兴奋性增加等,诊断和治疗上,应密切关注甲状腺素水平的变化。本文对甲状腺 功能亢进相关的moyamoya综合征的病理生理学机制及临床诊断治疗中应注意的问题做一综述。     

Rational approach to treatment of moyamoya disease in childhood

Early diagnosis and treatment of moyamoya disease in children is essential to minimize residual mental and physiologic deficits. Current treatment of childhood moyamoya disease in Japan, preoperative evaluation of perfusion reserve as a surgical indication, and the role of noninvasive follow-up by magnetic resonance angiography are reported. Approximately 20% of children with definite moyamoya disease were observed or treated medically. Among surgical procedures, single indirect bypass surgery was used in approximately 30% of all patients; combinations of direct and indirect bypass surgery, 20%; and multiple-indirect bypass surgery, 18%. Both adequate understanding of the primary condition and determination of optimal treatment, including specific operative procedures, required evaluation of cerebral circulation and metabolism. Surgical indications included reduced perfusion reserve in affected brain by positron emission tomography or single photon emission tomography with administration of acetazolamide or a CO2 load. Postoperative improvements of cerebral perfusion reserve show better correlation with disappearance of ischemic attacks than does angiographically demonstrated collateral formation. Follow-up evaluation with magnetic resonance angiography has advantages over conventional angiography because it is noninvasive and avoids general anesthesia.     

Magnetic resonance imaging of moyamoya disease in a child with Down's syndrome

ABSTRACT. A case of Down's syndrome and associated moyamoya disease is described in a 2-year-old child. The condition was demonstrated by the non-invasive technique of magnetic resonance imaging.     

Neurofibromatosis Type 1 Associated With Moyamoya Syndrome in Children

BackgroundVascular abnormalities in neurofibromatosis type 1 may arise anywhere in the cardiovascular system, and cerebrovascular involvement is the predominant feature of moyamoya syndrome. Because neurofibromatosis type 1 is a neurocutaneous disorder and routine follow-up with cranial MRI is not standard practice in asymptomatic children, accurate epidemiologic data are lacking. On follow-up, clinical and radiologic progression is often found in patients with moyamoya syndrome.MethodsWe performed a retrospective analysis on children with neurofibromatosis type 1 who had been diagnosed with moyamoya syndrome on cranial MRI.ResultsOf the 197 children diagnosed with neurofibromatosis type 1, 168 had undergone a cranial MRI, and four (2.3%) of them had moyamoya syndrome. At diagnosis, one child had headache and vomiting related to a right frontal hematoma and the other three children were asymptomatic, including one child with a previous history of renal arteriopathy. In two children moyamoya syndrome was unilateral.ConclusionsThe association between moyamoya syndrome and neurofibromatosis type 1 is rare, but it poses a potential risk of clinicoradiologic progression. Targeted monitoring of children with neurofibromatosis type 1 ensures an early diagnosis of moyamoya syndrome.     

Anterior ischemic optic neuropathy in moyamoya disease: a first case report

Neuro-ophthalmological manifestations in moyamoya disease are usually the result of cerebrovascular involvement of the visual pathways. We report a case of ischemic optic neuropathy due to ocular hypoperfusion as a result of moyamoya disease, despite a prior internal to external carotid artery bypass with normal hemisphere perfusion. The blood supply of the optic nerve, a proposed pathogenesis of an anterior ischemic optic neuropathy and complications of the ocular ischemic syndrome are discussed.     

成人烟雾病17例临床表现和影像学特点分析

目的探讨成人烟雾病的临床和影像学改变特点。方法回顾性分析17例经常规数字减影血管造影(DSA)、磁共振血管造影(MRA)和/或MRI检查确诊的成人烟雾病患者的临床和影像学资料。结果 17例患者中表现为缺血性脑卒中12例(70.6%),主要表现为偏瘫、失语、头痛及智能减退,还可表现为短暂性脑缺血发作;出血性脑卒中5例(29.4%),主要表现为头痛、意识障碍、偏瘫及抽搐。MRI检查发现缺血性脑卒中累及额叶8例,底节区3例,深部脑白质3例,枕叶3例,颞叶1例;累及单侧半球4例,双侧半球8例;脑萎缩6例。环池内烟雾血管影1例,双侧大脑中动脉累及10例。出血性脑卒中患者中单纯脑室出血2例,蛛网膜下腔出血1例,脑室出血并脑干出血1例,脑室出血并丘脑出血1例。MRA均发现双侧颈内动脉或其分支狭窄或闭塞。全脑DSA检查7例,其中双侧颈内动脉狭窄、闭塞5例,双侧大脑前动脉狭窄或闭塞4例,双侧大脑中动脉狭窄或闭塞3例。结论成人烟雾病临床表现多样,临床特点与责任病灶及支配血管相关;MRI和/或MRA有助于烟雾病的早期诊断,确诊需行全脑DSA检查。     

Moyamoya syndrome in a patient with congenital human immunodeficiency virus infection.

A 10-year-old boy with congenital human immunodeficiency virus (HIV) infection developed recurrent episodes of left hemiparesis at age 7 years. The progression of his disease was followed by computed tomography, magnetic resonance imaging, magnetic resonance angiography, and cerebral angiography. The series of images showed progressive stenosis of both carotid arteries at the suprasellar origin with involvement of his anterior and middle cerebral arteries, while prominent collateral vessels developed from his external carotid supply through ophthalmic and middle meningeal arteries. The pattern of cerebrovascular disease is consistent with moyamoya syndrome. We suggest that further studies on the pathophysiology of cerebrovascular disease in patients with HIV could be helpful in understanding the cause of moyamoya disease as well. Also, with the various advances in treatment of HIV, neurovascular complications could be seen more frequently as the long-term survival in these patients improves.     

A Case of Posterior Circulation Embolism Due to a Subtype of Bow Hunter's Syndrome Diagnosed by Non-Invasive Examination

Bow hunter's syndrome is the mechanical compression of the vertebral artery due to cervical rotation, resulting in ischemic symptoms in the vertebrobasilar artery territory. However, some cases present without typical symptoms and exhibit compression of the non-dominant side of the vertebral artery. We encountered a case of posterior circulation embolism due to a subtype of bow hunter's syndrome in a 74-year-old man. Although the right vertebral artery was not visualized on time-of-flight magnetic resonance angiography in the neutral position, duplex ultrasonography and time-of-flight magnetic resonance angiography in the left cervical rotation position showed blood flow in the right vertebral artery. In this case, blood flow in the contralateral vertebral artery was normal, and typical bow hunter's syndrome symptoms did not occur. In a case of posterior circulation embolism with undetermined etiology, wherein the routine duplex ultrasonography and time-of-flight magnetic resonance angiography results were inconclusive, additional testing with head positioning led to the diagnosis of a subtype of bow hunter's syndrome.     

Caucasian Familial Moyamoya Syndrome With Rare Multisystemic Malformations

Moyamoya disease is an idiopathic progressive steno-occlusive disorder of the intracranial arteries located at the base of the brain. It is associated with the development of compensatory extensive network of fine collaterals. Moyamoya disease is considered syndromic when certain genetic or acquired disorders such as polycystic kidney disease, neurofibromatosis, or meningitis are also present. Although the genetic contribution in moyamoya is indisputable, its cause and pathogenesis remain under discussion. Herein, we report a rare occurrence of moyamoya syndrome in two European Caucasian siblings in association with unusual multisystemic malformations (polycystic kidney disease in one, and intestinal duplication cyst in the other). The karyotype was normal. No mutation in the RFN213 gene was found, and none of the HLA types linked to moyamoya disease or described in similar familial cases were identified. By describing these multisystemic associations, polycystic kidney disease for the second time, and intestinal malformation for the first time in the literature, our report expands the phenotypic variability of moyamoya syndrome. The coexistence of disparate malformations among close relatives suggests an underlying common genetic background predisposing to structural or physiological abnormalities in different tissues and organs.     

Management of glioblastoma in an NF1 patient with moyamoya syndrome: a case report

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.