Clinical analysis of 15 pregnant women complicated with moyamoya disease / 中华妇产科杂志

Objective: To explore the effects of pregnancy complicated with moyamoya disease on maternal and fetal outcomes. Methods: The general clinical data and maternal and fetal outcomes of 20 pregnancies of 15 patients with moyamoya disease admitted to the First Affiliated Hospital of Zhengzhou University from January 2012 to October 2022 were retrospectively analyzed. Results: (1) General information: among the 20 pregnancies of 15 clearly diagnosed pregnant women complicated with moyamoya disease, 12 were diagnosed before pregnancy (60%, 12/20), 3 were diagnosed during pregnancy (15%, 3/20), and 5 were diagnosed during puerperal period (25%, 5/20). There were 7 cases of primipara (35%, 7/20) and 13 cases of multipara (65%, 13/20). (2) Pregnancy complications and maternal and infant outcomes: among the 20 pregnancies of 15 pregnant women with moyamoya disease, there were 9 pregnancy complications (45%, 9/20), including 5 gestational hypertension (25%, 5/20), 2 severe pre-eclampsia (10%, 2/20), 1 hyperlipidemia and 1 gestational diabetes mellitus (5%, 1/20). There were 2 case of drug abortion in the first trimester, 3 cases of labor induction in the second trimester, and 15 cases of delivery during the third trimester. All the 15 deliveries were cesarean section, of which 11 (11/15) were cesarean sections with medical indications, and 4 (4/15) were cesarean sections caused by personal factors. General anesthesia was used in 5 cases (5/15), epidural block anesthesia in 7 cases (7/15), and combined spinal and epidural anesthesia in 3 cases (3/15). The median gestational age of 15 neonates was 37.2 weeks (34.0 to 40.8 weeks), with 10 cases (10/15) were full-term infants, and 5 (5/15) were preterm infants (3 of which were associated with hypertensive disorder complicating pregnancy). The birth weight of 15 neonates was (2 853±454) g. Four neonates were admitted to neonatal intensive care unit (NICU), of which 3 cases were admitted to NICU due to premature delivery and 1 case was admitted to NICU due to neonatal jaundice. There was no neonatal asphyxia or death. All neonates were followed up from 4 months to 6 years after birth, and all grew well. (3) Neurological symptoms during pregnancy: 8 cases (40%, 8/20) had neurological symptoms during pregnancy, and 6 cases (30%, 6/20) had hemorrhagic symptoms, of which 3 cases occurred during the puerperal period (3/6). There were 2 cases of ischemic symptoms (10%, 2/20), all of which occurred during the puerperal period (2/2). (4) Analysis of factors related to the occurrence of cerebral hemorrhage: the incidence of cerebral hemorrhage in patients with moyamoya disease diagnosed before pregnancy was significantly lower than that in those without a clear diagnosis, and the incidence of cerebral hemorrhage in women with moyamoya disease was lower than that in primipara (all P<0.01). The incidence of cerebral hemorrhage in moyamoya patients without hypertensive disorder complicating pregrancy was lower than that in patients with hypertensive disorder complicating pregrancy, but the difference was not statistically significant (P>0.05). Conclusions: Pregnancy combined with moyamoya disease has adverse effects on maternal and infant outcomes, and the incidence of pregnancy complications increases. Cerebral hemorrhage occurres in prenatal and puperium, while cerebral ischemia occurres mainly in puperium.

Unusual presentation of moyamoya disease with popliteal involvement: case report and review of the literature / Apresentação incomum de doença de moyamoya com envolvimento poplíteo: relato de caso e revisão da literatura

Abstract Moyamoya disease is a rare disorder that involves the cerebrovascular system. Usually, it leads to occlusion of the arteries of the cerebral system and causes cerebral circulatory complaints. A 48-year-old female patient was admitted to our clinic with intermittent claudication in both legs. Biphasic and monophasic waveform patterns were detected bilaterally in distal (trifurcation arteries) lower extremities with Doppler sonography. The patient therefore underwent systemic vascular examination. Computed tomography angiography revealed bilateral carotid occlusion at the level of supraclinoid segments, and opacifications were detected at the distal segments of the bilateral anterior cerebellar and middle cerebellar arteries. The patient was diagnosed with moyamoya disease, and anticoagulant treatment was started. In conclusion, most previous reports have presented the cerebrovascular involvement of moyamoya disease. However, this disease can involve different peripheral vascular systems and careful and systemic vascular examination is necessary for an exact diagnosis.

Resumo A doença de moyamoya é um distúrbio raro que envolve o sistema cerebrovascular. Normalmente, leva à oclusão das artérias do sistema cerebral e causa problemas circulatórios no cérebro. Uma mulher de 48 anos foi admitida em nossa clínica com claudicação intermitente em ambas as pernas. Na ultrassonografia com Doppler, foram detectados padrões de formato de onda bifásico e monofásico nas extremidades inferiores distais (artérias da trifurcação) de forma bilateral. Portanto, realizou-se o exame vascular sistêmico na paciente. A angiografia por tomografia computadorizada revelou oclusão carotídea bilateral no nível dos segmentos supraclinoides, e opacificações foram detectadas nos segmentos distais das artérias cerebelares anteriores e médias de forma bilateral. A paciente foi diagnosticada com doença de moyamoya, e o tratamento anticoagulante foi iniciado. Em conclusão, a maioria dos relatos anteriores apresentou o envolvimento cerebrovascular da doença de moyamoya. No entanto, essa doença pode envolver diferentes sistemas vasculares periféricos, e um exame vascular sistêmico minucioso é necessário para um diagnóstico exato.

Bypass temporosilviano: enfermedad Moyamoya / Temporosilvian Bypass: Moyamoya disease

Introducción: En 1957, Takeuchi y Shimizu describen una vasculopatía oclusiva que involucra la arteria carótida interna bilateral, con la formación de vasos colaterales. En 1969, Suzuki y Takaku denominan a la conexión vascular colateral en las imágenes de angiografía "moyamoya" que significa nube de humo.2,3 Objetivos: El propósito del siguiente video es la descripción detallada de una cirugía de revascularización directa a través de un bypass temporosilviano en paciente con enfermedad Moyamoya. Materiales y Métodos: Se describe el caso de un paciente masculino de 27 años de edad que presentó de accidente vascular cerebral hemorrágico derecho. En la angiografía se diagnosticó estenosis del 70% de la arteria carótida interna supraclinoidea derecha, acompañado de estenosis de la arteria cerebral media y cerebral anterior homolateral. Se realizó cirugía de revascularización cerebral directa con bypass temporosilviano derecho.4,5 Resultados: Luego de realizado el bypass se confirmó adecuada permeabilidad del mismo y en la angiografía postoperatoria se observó el desarrollo de circulación colateral a través de la anastomosis. El paciente no presentó déficit en el periodo postoperatorio. Conclusión: Aunque la incidencia de enfermedad de Moyamoya no es elevada, es una causa probable de stroke isquémico o hemorrágico en niños y adultos. El manejo adecuado es fundamental para mejorar el pronostico a largo plazo de los pacientes con esta rara patología.

Introduction: In 1957, Takeuchi and Shimizu describes an occlusive vasculopathy involving the bilateral internal carotid arteries, with the formation of collateral vessels. In 1969, Suzuki and Takaku designate the collateral vascular connections in the angiographical images "moyamoya" which means puff of smoke.2,3 Objectives: The purpose of the following video is the detailed description of a direct revascularization surgery through a temporosilvian bypass in a patient with Moyamoya disease. Materials and methods: We present a case of a 27-year-old male patient with a history of right hemorrhagic cerebral vascular accident. In the angiography, 70% stenosis of the right supraclinoid internal carotid artery was diagnosed, accompanied by stenosis of the middle and anterior homolateral cerebral artery. Direct cerebral revascularization surgery was performed with right temporosilvian bypass.4,5 Results: After performing the bypass, adequate permeability is confirmed and in the postoperative angiography the development of collateral circulation through the anastomosis was observed. The patient did not present a deficit in the postoperative period. Conclusion: Although the incidence of Moyamoya disease is not high, it is a probable cause of ischemic or hemorrhagic stroke in children and adults. Proper management is essential to improve the long-term prognosis of patients with this rare pathology.

Moyamoya disease / Enfermedad de Moyamoya

Moyamoya disease is a chronic neurovascular disease characterized by progressive bilateral stenosis of the internal carotid arteries with abnormal formation of new abnormal blood vessels whose blockage of blood flow causes a variety of clinical manifestations and complications associated with acute cerebrovascular events (ischemic or hemorrhagic), which may even be fatal. This article seeks to describe this entity, its incidence, prevalence, forms of presentation, therapeutic measures and prognosis through a clinical case report. (Acta Med Colomb 2020; 45. DOI:http://doi.org/10.36104/amc.2020.1424).

La enfermedad de Moyamoya es una enfermedad neurovascular crónica caracterizada por una estenosis progresiva bilateral de las arterias carótidas internas, con la formación anormal de nuevos vasos sanguíneos, cuyo bloqueo en flujo sanguíneo ocasiona variadas manifestaciones clínicas y complicaciones asociadas a eventos cerebrovasculares (isquémicos o hemorrágicos) agudos que pueden llegar a ser incluso mortales. El presente artículo pretende realizar una aproximación acerca de esta entidad, su incidencia, prevalencia, formas de presentación y medidas terapéuticas y pronostico mediante el reporte de un caso clínico.(Acta Med Colomb 2020; 45. DOI:https://doi.org/10.36104/amc.2020.1424).

Endothelial progenitor cells in the peripheral blood of patients with moyamoya disease labeled with superparamagnetic iron oxide in vitro for MRI detection

Moyamoya disease (MMD) is currently thought to involve endothelial progenitor cells (EPCs). We investigated whether superparamagnetic iron oxide (SPIO) can be used to label EPCs. Mononuclear cells from 10 moyamoya disease patients were isolated, and cluster of differentiation 133 (CD133) positive cells sorted by magnetic-activated cell sorting were cultured in vitro. The positive rates of CD133, vascular endothelial growth factor receptor (VEGFR)-2, and cluster of differentiation 34 (CD34) were detected by flow cytometry. The cells were co-cultured with fluorescence labeled Dil-acetylated-low-density lipoprotein (Dil-ac-LDL) and Ulex europaeus agglutinin-1 (UEA-1) to observe the endocytosis of Dil-ac-LDL and binding to UEA-1. Prussian blue staining and transmission electron microscopy were used to observe the endocytosis of different SPIO concentrations in EPCs, and CCK-8 was used to detect proliferation of cells transfected with different concentrations of SPIO. T2 weighted imaging (T2WI) signals from magnetic resonance imaging after SPIO endocytosis were compared. Positive rates of CD133, VEGFR-2, and CD34 on sorted mononuclear cells were 68.2±3.8, 57.5±4.2, and 36.8±6.5%, respectively. The double-positive expression rate of CD34 and VEGFR-2 was 19.6±4.7%, and 83.1±10.4% of cells, which showed the uptake of Dil-ac-LDL and binding with UEA-1. The labeling efficiencies of SPIO at concentrations of 25 and 50 μg/mL were higher than for 12.5 μg/mL. The proliferation of cells was not influenced by SPIO concentrations of 12.5 and 25 μg/mL. After labeling, the T2WI of EPCs was reduced. The concentration of 25 μg/mL SPIO had high labeling efficiency detected by magnetic resonance imaging (MRI) without decreased EPCs viability.

Reversible Cerebral Vasoconstriction Syndrome Misdiagnosed as Moyamoya Disease with Transient Ischemic Attack as Initial Manifestation

Reversible cerebral vasoconstriction syndrome (RCVS) is a disease characterized by reversible and multiple stenoses of cerebral blood vessels that improve within 3 months, accompanied by thunderclap headache. Here, we report an interesting case of RCVS initially misdiagnosed as Moyamoya disease with transient ischemic attack. A 45-year-old woman visited the Neurology Department of Eulji University Hospital. The patient was initially diagnosed with Moyamoya disease with transient ischemic attack. However, follow-up magnetic resonance angiography performed 12 months after the patient was appropriately diagnosed as having RCVS.

Diagnosis and treatment of adult Moyamoya disease

Moyamoya disease (MMD) refers to a chronic progressive steno-occlusive disease at the distal portion of the internal carotid artery with abnormal collateral vessel formation of unknown etiology. The definite diagnosis of MMD requires cerebral angiography or magnetic resonance angiography and/or magnetic resonance imaging after excluding other underlying diseases, particularly in adult patients. The treatment aims to improve regional cerebral blood flow to prevent cerebral ischemic events and alleviate hemodynamic instability that can provoke cerebral hemorrhage. Although various surgical revascularization methods have been introduced, combined revascularization surgery including direct revascularization is preferred over indirect revascularization only in adult MMD patients. Several recent studies have shown that surgical treatment has better outcomes and prognosis for symptomatic hemodynamically unstable MMD patients with both ischemic and hemorrhagic presentations. For asymptomatic patients, follow up with appropriate imaging is recommended. Surgery should be considered when new symptoms emerge with hemodynamic aggravation.

Hemorrhagic Moyamoya Disease : A Recent Update

Moyamoya disease (MMD) is a progressive cerebrovascular disease with unknown etiology, characterized by bilateral stenoocclusive changes at the terminal portion of the internal carotid artery and an abnormal vascular network formation at the base of the brain. MMD has an intrinsic nature to convert the vascular supply for the brain from internal carotid (IC) system to the external carotid (EC) system, as indicated by Suzuki’s angiographic staging. Insufficiency of this ‘IC-EC conversion system’ could result not only in cerebral ischemia, but also in intracranial hemorrhage from inadequate collateral anastomosis, both of which represent the clinical manifestation of MMD. Surgical revascularization prevents cerebral ischemic attack by improving cerebral blood flow, and recent evidence further suggests that extracranial-intracranial bypass could powerfully reduce the risk of re-bleeding in MMD patients with posterior hemorrhage, who were known to have extremely high re-bleeding risk. Although the exact mechanism underlying the hemorrhagic presentation in MMD is undetermined, most recent angiographic analysis revealed the characteristic angio-architecture related to high re-bleeding risk, such as the extension and dilatation of choroidal collaterals and posterior cerebral artery involvement. We sought to update the current management strategy for hemorrhagic MMD, including the outcome of surgical revascularization for hemorrhagic MMD in our institute. Further investigations will clarify the optimal surgical strategy to prevent hemorrhagic manifestation in patients with MMD.

A Case of Familial Spondyloenchondrodysplasia with Immune Dysregulation Masquerading as Moyamoya Syndrome

No abstract available.

Factors Associated with Daily Completion Rates in a Smartphone-Based Ecological Momentary Assessment Study / 대한의료정보학회지

OBJECTIVES: Ecological momentary assessment (EMA) methods are known to have validity for capturing momentary changes in variables over time. However, data quality relies on the completion rates, which are influenced by both participants' characteristics and study designs. This study applied an EMA method using a mobile application to assess momentary moods and stress levels in patients with Moyamoya disease to examine variables associated with EMA completion rates. METHODS: Adults with Moyamoya disease were recruited from a tertiary hospital in Seoul. Patients with cognitive impairment were excluded. The EMA survey was loaded as a mobile application onto the participants' personal smartphones. Notifications were sent at semi-random intervals four times a day for seven consecutive days. Daily completion rates were calculated as the percentage of completed responses per day; overall completion rates were calculated as the proportion of completed responses per total of the 28 scheduled measures in the study and assessed through a descriptive analysis, t-test, ANOVA, and regression analysis, with mixed modeling to identify the point at which the daily completion rate significantly decreased. RESULTS: A total of 98 participants responded (mean age, 41.00 ± 10.30 years; 69.4% female; 75.5% married). The overall completion rate was 70.66%, with no gender or age differences found. The daily completion rate decreased significantly after day 5 (p = 0.029). CONCLUSIONS: Obtaining a good completion rate is essential for quality data in EMA methods. Strategic approaches to a study design should be established to encourage participants throughout a study to improve completion rates.

Arterial Spin Labeling MRI for Quantitative Assessment of Cerebral Perfusion Before and After Cerebral Revascularization in Children with Moyamoya Disease

OBJECTIVE: To determine the correlation between cerebral blood flow (CBF) on arterial spin labeling (ASL) MRI and the degree of postoperative revascularization assessed on digital subtraction angiography in children with moyamoya disease (MMD). MATERIALS AND METHODS: Twenty-one children (9 boys and 12 girls; mean age, 8.4 ± 3.6 years; age range, 3–16 years) with MMD who underwent both pseudocontinuous ASL MRI at 1.5T and catheter angiography before and after superficial temporal artery encephaloduroarteriosynangiosis were included in this retrospective study. The degree of revascularization in the middle cerebral artery (MCA) territory was evaluated on external carotid angiography and was graded on a 3-point scale. On ASL CBF maps, regions of interest were manually drawn over the MCA territory of the operated side at the level of the centrum semi-ovale and over the cerebellum. The normalized CBF (nCBF) was calculated by dividing the CBF of the MCA territory by the CBF of the cerebellum. Changes in nCBFs were calculated by subtracting the preoperative nCBF values from the postoperative nCBF values. The correlation between nCBF changes measured with ASL and the revascularization grade from direct angiography was evaluated. RESULTS: The nCBF value on the operated side increased after the operation (p = 0.001). The higher the degree of revascularization, the greater the nCBF change was: poor revascularization (grade 1), −0.043 ± 0.212; fair revascularization (grade 2), 0.345 ± 0.176; good revascularization (grade 3), 0.453 ± 0.182 (p = 0.005, Jockheere-Terpstra test). The interobserver agreement was excellent for the measured CBF values of the three readers (0.91–0.97). CONCLUSION: The nCBF values of the MCA territory obtained from ASL MRI increased after the revascularization procedure in children with MMD, and the degree of nCBF change showed a significant correlation with the degree of collateral formation evaluated via catheter angiography.

Hemorrhagic Moyamoya Disease : A Recent Update

Moyamoya disease (MMD) is a progressive cerebrovascular disease with unknown etiology, characterized by bilateral stenoocclusive changes at the terminal portion of the internal carotid artery and an abnormal vascular network formation at the base of the brain. MMD has an intrinsic nature to convert the vascular supply for the brain from internal carotid (IC) system to the external carotid (EC) system, as indicated by Suzuki’s angiographic staging. Insufficiency of this ‘IC-EC conversion system’ could result not only in cerebral ischemia, but also in intracranial hemorrhage from inadequate collateral anastomosis, both of which represent the clinical manifestation of MMD. Surgical revascularization prevents cerebral ischemic attack by improving cerebral blood flow, and recent evidence further suggests that extracranial-intracranial bypass could powerfully reduce the risk of re-bleeding in MMD patients with posterior hemorrhage, who were known to have extremely high re-bleeding risk. Although the exact mechanism underlying the hemorrhagic presentation in MMD is undetermined, most recent angiographic analysis revealed the characteristic angio-architecture related to high re-bleeding risk, such as the extension and dilatation of choroidal collaterals and posterior cerebral artery involvement. We sought to update the current management strategy for hemorrhagic MMD, including the outcome of surgical revascularization for hemorrhagic MMD in our institute. Further investigations will clarify the optimal surgical strategy to prevent hemorrhagic manifestation in patients with MMD.

Off-pump coronary artery bypass grafting in moyamoya disease: a case report

Abstract Moyamoya disease is a rare, idiopathic, progressive, occlusive disease of the internal carotid artery characterized by the development of collateral vasculature in the brain base. In patients with accompanying coronary artery disease, cardiopulmonary bypass posses a potential risk for perioperative cerebral ischemic complication. Herein, we report a 53-year-old male case of Moyamoya disease and coronary artery disease who was treated with off-pump coronary artery bypass grafting.

Síndrome de Moyamoya: una respuesta defensiva al daño crónico de un gran vaso cerebral Reporte de una serie de casos y revisión de la literatura / Moyamoya syndrome: a defensive response to the chronic damage of a large cerebral vessel. Cases report and review of the literature

RESUMEN OBJETIVOS: Presentar algunos casos de pacientes con síndrome de Moyamoya secundario a etiologías diversas y con base en ellos revisar aspectos generales del cuadro; de acuerdo con dos de los casos se propone una nueva hipótesis. MATERIALES Y MÉTODOS: Se describen cuatro casos clínicos de síndrome de Moyamoya, identificados en la ciudad de Medellín, Colombia, con sus respectivas imágenes y la evolución de su cuadro. Con base en dos de los casos, en los cuales el síndrome se desencadenó posteriormente a la implantación de un stent diversor de flujo, se propone una nueva etiología. RESULTADOS: En dos casos se identificó la implantación de un stent diversor de flujo como el desencadenante del cuadro de Moyamoya. En uno de los casos la enfermedad primaria fue una neurofibromatosis tipo 1; en el cuarto caso no fue posible identificar la causa del síndrome. Ninguno de los pacientes presentó compromiso neurológico a pesar del grave daño arterial. CONCLUSIONES: El síndrome de Moyamoya (SMM), más que una entidad independiente, debería ser entendido como un mecanismo compensatorio y defensivo secundario a la deprivación del flujo sanguíneo en la circulación cerebral anterior, el cual protege a los pacientes de eventos cerebrovasculares isquémicos con consecuencias devastadoras. La implantación de stents diversores de flujo como método de tratamiento de algunos aneurismas cerebrales, se proyecta en el tiempo como una de las causas más importantes del síndrome.

SUMMARY OBJECTIVES: To present some cases of patients with Moyamoya syndrome secondary to diverse etiologies, and, based on them, to review general aspects of the clinical picture. Supported on two cases, the hypothesis of a new mechanism is proposed. MATERIALS AND METHODS: Four clinical cases of Moyamoya syndrome are described, identified in the city of Medellín, Colombia, with their respective images and the evolution of their condition. Based on two of the cases, in which the syndrome was triggered after the implantation of a flow-diverter stent, a new etiology is proposed. RESULTS: In two cases, the implantation of a flow-diverter stent was identified as the trigger of the Moyamoya picture. In one case the primary disease was type 1 neurofibromatosis; in the fourth case it was not possible to identify the cause of the syndrome. None of the patients presented neurological compromise despite severe arterial damage. CONCLUSIONS: Moyamoya syndrome (MMS), rather than an independent entity, should be understood as a compensatory and defensive mechanism in response to the deprivation of blood flow in the anterior cerebral circulation, which protects patients from ischemic cerebrovascular events. Implantation of flow-diverter stents, as a method of treatment of some cerebral aneurysms, is projected in time as an important cause of this syndrome.

Cognitive Functions in Children and Adults with Moyamoya Vasculopathy: A Systematic Review and Meta-Analysis / 대한뇌졸중학회지

BACKGROUND AND PURPOSE: Patients with moyamoya vasculopathy (MMV) may experience cognitive impairment, but its reported frequency, severity, and nature vary. In a systematic review and metaanalysis, we aimed to assess the presence, severity, and nature of cognitive impairments in children and adults with MMV. METHODS: We followed the MOOSE guidelines for meta-analysis and systematic reviews of observational studies. We searched Ovid Medline and Embase for studies published between January 1, 1969 and October 4, 2016. Independent reviewers extracted data for mean intelligence quotient (IQ) and standardized z-scores for cognitive tests, and determined percentages of children and adults with cognitive deficits, before and after conservative or surgical treatment. We explored associations between summary measures of study characteristics and cognitive impairments by linear regression analysis. RESULTS: We included 17 studies (11 studies reporting on 281 children, six on 153 adults). In children, the median percentage with impaired cognition was 30% (range, 13% to 67%); median IQ was 98 (range, 71 to 107). Median z-score was –0.39 for memory, and –0.43 for processing speed. In adults, the median percentage with impaired cognition was 31% (range, 0% to 69%); median IQ was 95 (range, 94 to 99). Median z-scores of cognitive domains were between –0.9 and –0.4, with multiple domains being affected. We could not identify determinants of cognitive impairment. CONCLUSIONS: A large proportion of children and adults with MMV have cognitive impairment, with modest to large deficits across various cognitive domains. Further studies should investigate determinants of cognitive deficits and deterioration, and the influence of revascularization treatment on cognitive functioning.

Aberrant Promoter Hypomethylation of Sortilin 1: A Moyamoya Disease Biomarker / 대한뇌졸중학회지

BACKGROUND AND PURPOSE: The pathogenesis of moyamoya disease (MMD) remains poorly understood, and no reliable molecular biomarkers for MMD have been identified to date. The present study aimed to identify epigenetic biomarkers for use in the diagnosis of MMD. METHODS: We performed integrated analyses of gene expression profiles and DNA methylation profiles in endothelial colony forming cells (ECFCs) from three patients with MMD and two healthy individuals. Candidate gene mRNA expression and DNA methylation status were further validated using reverse transcription-quantitative polymerase chain reaction (RT-qPCR) and pyrosequencing analysis of an expanded ECFC sample set from nine patients with MMD and ten controls. We evaluated the diagnostic accuracy of the potential biomarkers identified here using receiver operating characteristic curve analyses and further measured major angiogenic factor expression levels using a tube formation assay and RT-qPCR. RESULTS: Five candidate genes were selected via integrated analysis; all five were upregulated by hypomethylation of specific promoter CpG sites. After further validation in an expanded sample set, we identified a candidate biomarker gene, sortilin 1 (SORT1). DNA methylation status at a specific SORT1 promoter CpG site in ECFCs readily distinguished patients with MMD from the normal controls with high accuracy (area under the curve 0.98, sensitivity 83.33%, specificity 100%). Furthermore, SORT1 overexpression suppressed endothelial cell tube formation and modulated major angiogenic factor and matrix metalloproteinase-9 expression, implying SORT1 involvement in MMD pathogenesis. CONCLUSIONS: Our findings suggest that DNA methylation status at the SORT1 promoter CpG site may be a potential biomarker for MMD.

Rupture of a Middle Meningeal Artery Pseudoaneurysm in Moyamoya Syndrome Related with Tuberculous Meningitis

We report a rare case of a patient with Moyamoya syndrome who presented with intracerebral hemorrhage resulting from rupture of a middle meningeal artery pseudoaneurysm. This 38-year-old woman was unconscious and hemiplegic when she was admitted to our hospital. The patient had mental retardation as a result of tuberculous meningitis infection at the age of one year. On radiologic examination, she had intracerebral hemorrhage in the right temporo-parietal lobe and an aneurysm in the middle meningeal artery with right internal carotid artery occlusion. The patient underwent surgical treatment for the hemorrhage and aneurysm. The radiologic data, intraoperative findings, and pathology were consistent with a diagnosis of pseudoaneurysm. In the current report, we describe a rare case of a patient with a history of tuberculous meningitis who developed Moyamoya syndrome and pseudoaneurysm, which resulted in a ruptured middle meningeal artery pseudoaneurysm and brain hemorrhage.