Moya-moya

The use of optical coherence tomography to diagnose conditions that predominantly affect the photoreceptor layer is postulated as a technique that allows to evaluate the relationship between retinal changes and loss of visual acuity. Two clinical cases are presented on patients with a bilateral decrease of their visual acuity and alteration in chromatic perception. Optical coherence tomography revealed subfoveal focal hypo-reflective defects on the hyper-reflective band (known as the ellipsoid zone).

OBJECTIVE: Moyamoya disease (MMD) is characterized by a progressive spontaneous occlusion of distal internal carotid arteries and its main branches. It is necessary to promptly diagnose and treat this condition, especially in children, because of the high risk of stroke and consequent severe disability. In this study, we examine the role of multiple burr-hole surgery (MBHS) in the treatment of pediatric patients with MMD and quasi-MMD and the role of perfusion magnetic resonance imaging (MRI) in the surgical indication and during follow-up...

BACKGROUND: The aim of this study was to retrospectively assess short-term neurological outcomes in pediatric stroke with regard to patient characteristics. METHODS: Children aged 28 days-18 years with arterial ischemic stroke (AIS), cerebral sinovenous thrombosis (CSVT), and hemorrhagic stroke (HS) between 2007 and 2013 were evaluated. Neurological findings in the first 3 months were accepted as short-term prognosis, and modified Rankin scale was used. RESULTS: A total of 33 patients (62%) with AIS, 12 (23%) with HS, and eight (15%) with CSVT were included...

BACKGROUND: Intellectual disability (ID) and dementia reflect disturbed cortical function during and after developmental age, respectively. Due to the wide heterogeneity of ID population the decline in cognitive and adaptive skills may be different in distinct genetic subgroups. METHODS: Using the British Present Psychiatric State-learning Disabilities assessment (PPS-LD) questionnaire the dementia signs were screened in 62, 22 and 44 individuals (> 35 year of age) with Down (DS, OMIM number 190685), Williams (WS, OMIM number, 194050), and Fragile X syndrome (FXS, OMIM number 309550), respectively...

PURPOSE: To identify the spectrum of disease-causing CYP4V2 variants in Spanish patients with clinically diagnosed Bietti crystalline dystrophy (BCD) over an 8-year period and to analyse the phenotype-genotype correlation of the identified variants. METHODS: Four unrelated Spanish probands with a clinical diagnosis of BCD were recruited. Ophthalmological examination included visual acuity (VA), slit lamp examination, in vivo corneal confocal microscopy, funduscopy and fluoresceinic angiography...

INTRODUCTION: Moya-Moya angiopathy is a neurovascular disease that predisposes to ischemic or hemorrhagic strokes. It is generated by a steno-occlusion of the terminal portion of the internal carotid arteries, which induces the development of abnormal neovessels in the deep regions of the brain. Some pathologies such as sickle cell disease, Down syndrome or Graves' disease may be associated with Moya-Moya angiopathy. These syndromic forms harbor several differences compared with idiopathic Moya-Moya disease...

Stroke is a dramatic complication of sickle cell disease (SCD), which is associated with cerebral vasculopathies including moya moya, intravascular thrombi, cerebral hyperemia, and increased vessel tortuosity. The spontaneous occurrence of these pathologies in the sickle cell mouse model has not been described. Here, we studied Townes humanized sickle cell and age-matched control mice that were 13 months old. We used in vivo two-photon microscopy to assess blood flow dynamics, vascular topology, and evidence of cerebral vasculopathy...

BACKGROUND: This article illustrates, summarizes, and reviews the multifaceted application of four-dimensional (4D) computed tomography angiography (CTA) in the characterization and diagnosis of various cerebrovascular and tumor-associated vascular pathologies through the presentation of clinical cases, including acute and chronic stroke, arteriovenous malformations, aneurysm, moyamoya disease, and hypervascularity associated with a tumor and its relationship to preoperative embolization...

BACKGROUND: Moya-moya disease in children is a cerebrovascular disorder that may cause cerebral ischemic or hemorrhage. CASE DETAILS: We report an 8-year-old boy that was admitted with the chief complaint of repeated sudden half left body paralyze. MRA showed acute thrombotic infarction in the right hemisphere and internal carotid artery stenosis in the form of puffs of smokes. Indirect revascularization surgical procedure with combination of Encephalo-myo-pial-synangiosis (EMS) and Encephalo-arterio-pial-synangiosis (EAS) was performed...

DESIGN: Case report. SETTING: Operating room. PATIENT: 25YF, ASA IV E who underwent an emergent decompressive craniectomy for refractory intracranial hypertension secondary to acute intracranial hemorhage. INTERVENTIONS: A 25Y caucasian female presented with acute intracranial hemorrhage with intraventricular extension secondary to Moya Moya disease. Post admisison, she underwent an emergent decompressive craniectomy for medically refractory intracranial hypertension...

Moya Moya Disease (MMD) is characterised by idiopathic vasculopathy affecting the terminal internal carotid arteries resulting in the formation of extensive collaterals at the base of the brain, leptomeninges and parenchymal regions with resultant infarcts and bleeds. Four children presented with clinico-radiological features suggestive of Moyamoya disease/syndrome. This includes global developmental delay, recurrent seizures, transient ischaemic attacks and impaired vision. The first patient had vision of 6/15 in both eyes with bilateral optic disc pallor...

CLINICAL CASE: A 43-year-old woman in remission from T- cell acute lymphoblastic leukaemia was referred to our hospital with suspected leukaemic retinitis. The funduscopic examination of her left eye revealed multifocal yellow-white peripheral retinitis and retinal haemorrhage. The patient was treated for cytomegalovirus retinitis after an extended haematological investigation showed no abnormalities. Initial improvement was followed by papillitis in the left eye and motility restriction in the right eye...

Moya-moya is a rare cerebrovascular disease characterized by the progressive occlusion of cerebral vessels with partial switching off the circle of Willis and arteries that feed it. The article provides a review of literature, modern diagnostic criteria and a description of a single clinical case. The onset of the disease in this patient was characterized by headache and speech disorders.An analysis of speech disorders showed that they were systemic. They were registered at all language levels (phonetic, lexical,morphological, syntactic)...

OBJECTIVE: The objective of this case report is to describe the anesthetic management in a child with moya-moya disease and sickle cell anemia provided in a tertiary hospital. CASE: A 6 year-old patient, diagnosed with moya-moya disease and sickle cell anemia, both conditions associated with a greater incidence of intracranial ischemic events, with a history of two strokes of the ischemic subtype, was submitted to general anesthesia for the execution of multiple cranial burr holes in order to produce the neovascularization in poorly perfused regions...

BACKGROUND: To highlight the management nuances in addressing mirror aneurysms (MirAns) in a subset of multiple aneurysms. METHODS: A retrospective study was carried out and all multiple intracranial aneurysms (n = 70) over 9 years were identified. Exclusion criteria were associated arteriovenous malformations, moyamoya disease, and either traumatic or mycotic aneurysms or those managed by endovascular approach alone. Patients were grouped as MirAn and nonmirror aneurysms (nMirAns)...

Moyamoya disease in children is a rarely diagnosed entity. Frequent headache is the first symptom of the disease. Headache associated with moya-moya disease (HAMD) is a separated entity reported in the literature. Variants of onset, a spectrum of primary diagnoses and diagnosis verification rate of moyamoya disease in 7 children are presented. A clinical case of moya-moya disease in a 9-year boy, who was primarily diagnosed with migraine with aura, is reported. The results presented by the authors as well as literature data indicate the necessity of using magnetic-resonance angiography in children with headache attacks and focal neurologic symptoms to identify this progressive vascular pathology and timely recommend a surgical treatment...

OBJECTIVES: Time-of-flight (TOF) magnetic-resonance-angiography (MRA) identifies vessel pathology in cerebrovascular disease. At 7.0 T, the clinical performance of TOF-MRA is constrained owing to radio frequency power deposition. We studied the diagnostic value of whole-brain MPRAGE-based MRA as an alternative imaging technique in comparison to the clinical standard 3.0 T TOF-MRA. METHODS: Patients with stroke and/or moya-moya disease were included. TOF-MRA was performed at 3...

BACKGROUND: Moya Moya disease (MMD) is one of the most common cerebro-vascular diseases in children resulting in stroke. Surgical revascularization aims at improving the perfusion to the 'at-risk' ischemic brain. Several factors including peri-operative anesthetic related ones, affect the outcome in these children. This study was performed with the aim to explore the role of anesthetic techniques, pharmacological agents and perioperative management strategies on the neurological outcome following an indirect revascularization procedure for the treatment of MMD...

OBJECTIVES: The material of Necrolemur (Microchoerinae, Omomyidae, Primates) from the Middle Eocene (Robiacian) locality of Sant Jaume de Frontanyà (Eastern Pyrenees) is described. This is the first confirmable record of this genus from Spain. METHODS: A mandible fragment bearing P4 -M3 and 15 isolated teeth have been carefully described and compared with all the known species of Necrolemur (namely Necrolemur antiquus, Necrolemur zitteli and Necrolemur cf. zitteli from Egerkingen α) and with Nannopithex filholi...

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