Cerebrovascular Anomalies Research Articles

An Algorithm for the Microsurgical Resection of Cerebellar Cavernomas.

Cavernous malformations (CMs) account for 8% to 15% of all cerebrovascular anomalies and pose clinical significance due to their potential to cause symptomatic hemorrhage, seizures, and focal neurological deficits. While the majority of CMs are located supratentorial, the less common posterior fossa, particularly cerebellar CMs (cCMs), pose a unique treatment challenge. This study aims to contribute to the understanding and management of cerebellar CMs, thereby assisting in the decision-making process for clinical interventions in this patient population. We conducted a retrospective analysis of all patients who were treated for CMs from 2010 to 2023 at our tertiary healthcare facility. Patients with cCMs were further analyzed concerning their treatment strategy and functional outcome based on the modified Rankin Scale. Nine hundred fourteen patients with CMs were treated between 2013 and 2023 at our center. Among these subjects, 6.5% (n = 59) presented with cerebellar lesions. The median age was 54 [37-64] years, and 15 (25.4%) patients showed associated developmental venous anomalies. Nearly half of these patients (49.0%) were surgically treated. Surgical approaches were tailored and individualized to the specific CM location based on a treatment algorithm and encompassed supracerebellar-infratentorial, telovelar, suboccipital transcortical, retrosigmoid transcortical, and retrosigmoidal transhorizontal fissure approaches. Univariate analysis revealed no risk factors concerning postoperative morbidity. The surgically treated patients showed a significant improvement between preoperative and follow-up functional outcomes. cCMs are rare but frequently necessitate surgical intervention. This study enhances the current understanding of cCMs, underscoring the intricate challenges associated with their management. Differentiated algorithms with tailored approaches ensure the optimization of outcomes in the treatment of these challenging lesions.

Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up

RASopathies are a group of genetic syndromes caused by germline mutations in genes involved in the RAS/Mitogen-Activated Protein Kinase signaling pathway, which regulates cellular proliferation, differentiation, and angiogenesis. Despite their involvement at different levels of this pathway, RASopathies share overlapping clinical phenotypes. Noonan syndrome is the most prevalent RASopathy, with an estimated incidence of 1 in 2500 live births, and it is typically inherited in an autosomal dominant manner, with 50% of cases involving gain-of-function mutations in the PTPN11 gene. De novo mutations are common, accounting for 60% of cases. The phenotype of Noonan syndrome includes characteristic facial and physical features, congenital cardiac defects, lymphatic and cerebrovascular anomalies, renal malformations, hematological abnormalities, developmental issues, and an increased risk of cancer. Severe congenital cardiac defects and lymphatic abnormalities significantly impact prognosis, contributing to increased morbidity and mortality. Recent therapeutic advancements have introduced trametinib, an MEK1/2 inhibitor, for treating Noonan syndrome patients with severe cardiac and lymphatic complications. To assess its efficacy, here, we present a case of a newborn with Noonan syndrome who exhibited refractory chylothorax, ventricular hypertrophy, and pulmonary stenosis who was treated with trametinib. The patient demonstrated significant improvement in chylothorax and left ventricular hypertrophy, though pulmonary stenosis persisted. This case further confirms trametinib’s potential as a therapeutic option for severe Noonan syndrome complications, emphasizing the need for further clinical trials to optimize treatment protocols and evaluate long-term outcomes.

Vein of galen malformations: for patients and caregivers.

Vein of Galen malformations (VOGMs), also known as Vein of Galen Aneurysmal Malformations (VGAMs), are rare and complex cerebrovascular anomalies that pose significant diagnostic and therapeutic challenges. These malformations result from abnormal arteriovenous shunts during embryonic development, leading to a range of severe clinical manifestations, including high-output cardiac failure and hydrocephalus. Advances in prenatal imaging, particularly fetal MRI, have improved early detection, allowing for timely intervention. Endovascular techniques, especially transarterial embolization, have become the primary treatment modality, often preferred over surgical approaches due to their effectiveness and lower risk. However, challenges remain, particularly in managing these malformations in neonates and infants, where the risk of complications is high. Gamma Knife radiosurgery offers a non-invasive alternative for select cases, though its effects are gradual and may carry delayed risks. Despite advancements, the management of VOGMs continues to require a multidisciplinary approach, with ongoing research focused on improving outcomes through a better understanding of the genetic and molecular underpinnings of the disease. Future directions include the integration of genetic studies into clinical practice and the refinement of treatment strategies to optimize outcomes for this complex condition.

A study of acute stroke syndromes in patients of type 2 diabetes mellitus in a tertiary care hospital in south Rajasthan - A cross sectional observational study

Introduction Stroke is one of the leading causes of death and long term disability in India. Stroke is an important cause of premature death and disability in low- income and middle-income countries like India, largely driven by demographic changes and enhanced by the increasing prevalence of the key modifiable risk factors. Among all the neurological diseases of adult life, cerebrovascular accidents clearly ranks first in frequency of importance. Almost fifty percent of neurological diseases in general hospital are due to stroke. Cerebrovascular accident includes ischemic stroke, hemorrhagic stroke, and cerebrovascular anomalies such as intracranial aneurysm, AV malformation and cortical venous thrombosis. Stroke after heart disease, is the second most common cause of death among noncommunicablediseases.[1] With the introduction of effective treatment for hypertension, there has been a marked reduction in the frequency of stroke.

Comparison Efficacy of Phenobarbital versus Levetiracetam in Acute Neonatal Seizures: A Randomized Control Trial

AbstractSeizures in infancy are one of the main manifestations of disorders in the central nervous system that can have important etiologies. The development of anticonvulsant drugs and the importance of drug selection in infants, due to more complex underlying etiologies, compared with older ages, explicate the essentiality of executing clinical investigations to appraise the optimal therapeutic approach. The objective of the current investigation is to juxtapose two therapeutic approaches involving intravenous levetiracetam and intravenous phenobarbital in the management of neonatal seizures. This is a randomized controlled clinical trial study on 100 infants who were referred to the Hazrat Masoumeh (S) Hospital in Qom owing to convulsions. Infants with seizure who fulfilled the inclusion criteria were arbitrarily allocated to one of the two intervention cohorts: intravenous levetiracetam or intravenous phenobarbital, and therapeutic responses were compared. There was a substantial relationship between seizure time, seizure etiology, anticonvulsant therapy type, and treatment responsiveness. As a result, the risks of not responding to therapy and increasing the dose were approximately 6 and 5 times higher, respectively, in the group that experienced seizures in the fourth week than in the other groups. Infants with cerebrovascular anomalies were more prone to not responding to treatment. Furthermore, children administered phenobarbital had a 2.5-fold higher chance of not responding to treatment than those given levetiracetam (p = 0.043).

Imaging Assessment of Fetal Cerebrovascular Anomalies.

Four distinct vascular anomalies can be seen to affect the brain on fetal imaging: vein of Galen malformations, non-galenic arteriovenous pial fistulas, dural sinus malformations, and intracranial venous malformations. These congenital disorders affect the arteries and veins of the developing brain and are rarely seen beyond the neonatal stage. The four fetal cerebrovascular anomalies are associated with quite disparate natural histories and prognoses. MRI plays a pivotal role in the evaluation of fetuses with these conditions due to its ability to definitively establish the diagnosis, to detect subtle parenchymal injuries, to delineate the course of abnormal vessels in detail and to some extent the nature of vascular flow, and to identify ischemic, thrombotic, and hemorrhagic complications. Recently, an investigational transurterine embolization procedure targeted at treating fetuses with vein of Galen malformations who are at high risk for neonatal decompensation has emerged as a promising alternative to expectant management and post-natal embolization, with imaging being used to identify suitable patients for the intervention and in pre-procedural planning. This manuscript reviews the essential imaging and clinical features of these four fetal neurovascular anomalies and underscores the practical aspects related to counseling, prognosis, and the multidisciplinary management of these entities.ABBREVIATIONS: ACVRL1= activin A receptor like type 1; b-SSFP=Balanced Steady State Free precession; DSM= Dural Sinus Malformation; Ephrin B4= Ephrin type-B receptor 4; icVM= Intracranial Venous Malformation; ITGB1= Integrin Subunit Beta 1; NOTCH1= Neurogenic locus notch homolog protein 1; PTPN11= Protein Tyrosine Phosphatase Non-Receptor Type 11; RASA1= RAS P21 Protein Activator 1; SSFSE= Single-shot fast spin echo; VOGM=Vein of Galen Malformation.

Pathologic features of brain hemorrhage after radiation treatment: case series with somatic mutation analysis

BackgroundRadiation treatment for diseases of the brain can result in hemorrhagic adverse radiation effects. The underlying pathologic substrate of brain bleeding after irradiation has not been elucidated, nor potential associations with induced somatic mutations. MethodsWe retrospectively reviewed our department's pathology database over 5 years and identified 5 biopsy specimens (4 patients) for hemorrhagic lesions after brain irradiation. Tissues with active malignancy were excluded. Samples were characterized using H&E, Perl's Prussian Blue, and Masson's Trichrome; immunostaining for B-cells (anti-CD20), T-cells (anti-CD3), endothelium (anti-CD31), macrophages (anti-CD163), α-smooth muscle actin, and TUNEL. DNA analysis was done by two panels of next-generation sequencing for somatic mutations associated with known cerebrovascular anomalies. ResultsOne lesion involved hemorrhagic expansion among multifocal microbleeds that had developed after craniospinal irradiation for distant medulloblastoma treatment. Three bleeds arose in the bed of focally irradiated arteriovenous malformations (AVM) after confirmed obliteration. A fifth specimen involved the radiation field distinct from an irradiated AVM bed. From these, 2 patterns of hemorrhagic vascular pathology were identified: encapsulated hematomas and cavernous-like malformations. All lesions included telangiectasias with dysmorphic endothelium, consistent with primordial cavernous malformations with an associated inflammatory response. DNA analysis demonstrated genetic variants in PIK3CA and/or PTEN genes but excluded mutations in CCM genes. ConclusionsDespite pathologic heterogeneity, brain bleeding after irradiation is uniformly associated with primordial cavernous-like telangiectasias and disruption of genes implicated in dysangiogenesis but not genes implicated as causative of cerebral cavernous malformations. This may implicate a novel signaling axis as an area for future study.

A Rare Neurological Presentation of Noonan Syndrome and Its Management—A Case Report

AbstractAlthough Noonan syndrome is a relatively common congenital disorder with autosomal dominant inheritance, its association with cerebrovascular anomalies is rare. We report a case of a 20-year-old with Noonan syndrome with cerebrovascular aneurysm, who underwent successful endovascular coiling. Only four cases of cerebrovascular aneurysms in Noonan syndrome have been reported in the literature so far. To the best of our knowledge, this is only the fifth reported case and the first one that has been treated successfully with endovascular coiling. We hereby discuss the management of this case, which had several comorbidities like congenital heart disease and craniovertebral junction anomaly.

Persistent trigeminal artery in a patient with moyamoya disease:a case report and literature review

BackgroundsPersistent trigeminal artery (PTA) is a rare anastomosis between internal carotid artery (ICA) and basilar artery. In rare conditions, the PTA could be combined with others cerebrovascular anomalies, moyamoya disease (MMD) is one of them.Case presentationHere, we reported one rare case of MMD associated with PTA, the patient admitted to our department for severe dizziness and headache, imaging examination suggested MMD combined with right PTA, which arising from the ipsilateral cavernous portion of ICA. The patient received phased bilaterral revascularization with no any complication. In the subsequent follow-up, the patient’s symptoms and intracranial vascular condition gradually improved. Moreover, we conducted a literature review of coexistence of PTA and MMD, the results of a web of science regarding such condition, and a deep discussion providing brief insight into the status of co-occurrence of PTA and MMD, including its manifestation, treatment and outcome.ConclusionsThe coexistence of PTA and MMD was rarely reported, the pathogenesis of such condition remains unknown. We found that the features of the coexistence of PTA and MMD were diverse, revascularization might be a feasible for such patient.

Cerebral Vasomotor Reactivity Testing in the Middle Cerebral Artery Using Transcranial Doppler to Assess Brain Dysregulation in Long-haul COVID Patients

Introduction: COVID-19 has wide-ranging physiological effects, with many patients complaining of persistent asthenia following recovery from the acute phase of the infection. The frequent term for this is “Long-Haul COVID.” While we have tools to measure effects on general physiology in human subjects, a metric for cerebral dysregulation is lacking. Cerebral blood flow is closely regulated in a healthy young person. Cerebral vasomotor reactivity (CVR) was used as a tool to assess this dysregulation. Methods: A transcranial Doppler (TCD) study for CVR was performed under the influence of Carbogen gas. A questionnaire collected prior to the procedure provided additional details on subjects’ demographics and COVID history. Cases and controls were recruited using the self-reported questionnaire. Statistics involved assessing the reproducibility of the test, as well as discovering differences between cases and control groups. Results: Cerebral vasomotor reactivity was assessed in 26 subjects (10 cases and 16 controls). Mean flow velocity in the left middle cerebral artery was analyzed at baseline, at peak Carbogen gas exposure, and in the hypercapnic phase. The reproducibility of the test was established within the longitudinal repeated measures data. The case and control groups were insignificant in difference at the base level but significant when controlled for confounders. Cerebral vasomotor reactivity was found to increase by 3.8 units in cases compared to controls. Confounders like body mass index, gender, and age were found significantly different between cases and controls. The number of COVID episodes and symptom severity was significant for CVR. Conclusion: This simple TCD bedside test was found to be effective in assessing CVR among all the subjects and was homogenous in its effect irrespective of baseline subject differences. As a preliminary test, the test showed differences among cases and control groups. The sample for the test lacked sufficient power and observations. A bigger sample size and a subsequent longitudinal follow-up may help better understand the use of CVR to screen high-risk populations for cerebrovascular anomalies.

SAT580 Incidental Diagnosis Of Genetic Variant PTPN11 Noonan Syndrome With Multiple Lentigines, Sensorineural Hearing Loss And Rheumatoid Arthritis In Adult Female With Hashimoto’s Thyroiditis. Case Report

Abstract Disclosure: M.M. Eid: None. T. Zahra: None. J. Vargas-Jerez: None. Introduction: Hashimoto’s thyroiditis (HT, chronic lymphocytic thyroiditis, autoimmune thyroiditis) and Rheumatoid arthritis (RA) are autoimmune disorders, affect mainly females (1). Noonan syndrome with Multiple Lentigines (NSML, Leopard Syndrome) is a rare multigenetic autosomal dominant disorder. It includes cerebrovascular and cardiac anomalies, facial phenotype, hearing abnormality and developmental delay (2). Case: 41 yo, Female with history of HT since 2002 (high TSH, thyroid peroxidase antibody more than 1000 u/ml, low FT4 and FT3) on levothyroxine 150mcg/day. Recently moved to the USA from EL Salvador. Presented for initial evaluation. Denied smoking, alcohol, allergy. Maternal aunt with thyroid disease. Had menstrual irregularities, no previous attempt to conceive. Review of system: 5 months of pain, swelling and morning stiffness for 1 hour in hand joints, hearing difficulty for 2 years, painless brown skin spots for years, childhood learning difficulty and constipation. Physical examination body weight 139Ib, height 162cm, Stable vitals, diffuse lentigines. Head: board forehead, hypertelorism, high arched eye brows, micrognathia, low set ears. Heart: normal heart sounds, no murmur. No thyromegaly, nystagmus or vertigo. Hand: swelling of metacarpophalangeal and proximal interphalangeal joints. Laboratory work up TSH 8 normal 0.27 to 4.2 uIU/ml, FT4 0.8 normal 0.9-1.8 ng/dl, A1C 5.7, positive rheumatoid factor 199IU/ml, anti-CCP antibody > 250U, ANA 1/320, ESR 61ml/hr, negative anti-tissue transglutaminase antibody, normal liver and kidney function tests and complete blood count. Hand X-ray: decrease joint space and bone erosion. Thyroid US: normal size, vascularity, no nodule. Normal Echocardiogram, EKG and chest X ray. Internal auditory canal MRI: no masses or abnormal enhancement. DEXA Scan: osteopenia of femur and lumbar spine. She was diagnosed with seropositive RA, B/L sensorineural hearing loss (SNHL) more on right side. Genetic test revealed heterozygous pathogenic variant of PTPN11 gene consistent with NSML and negative for Neurofibromatosis type 1. Kept on prednisone and methotrexate, levothyroxine was increased 162mcg/day. Conclusion: Autoimmune disorders have a common pathogenesis including humoral and cell mediated immunity, autoimmune oxidative stress, UV radiation exposure, genetic linkage and biochemical changes. Diagnosis of one autoimmune disorder increases the possibility of other autoimmune disorders (1). NSML has a variable presentation. PTPN11-NSML is usually associated with SNHL and cardiac anomalies as pulmonary stenosis. It is infrequent to diagnose NSML with HT and structurally normal heart like our case(2).

PHACE syndrome in a Nigerian newborn: case report and literature review

Background: PHACE syndrome is a rare neurocutaneous disorder characterised by large cervicofacial haemangiomas and associated anomalies of the brain, cerebro-vasculature, aorta, heart, and eyes. This case report describes the clinical presentation, management, and literature review of the disorder. Case Report: An hour-old term baby girl presented with a large midline facial haemangioma, microcephaly with absent anterior fontanelle, right microphthalmia, and absent left eye. She also had multiple seizures. There were telangiectatic areas all over the extensor surfaces of both the upper and lower limbs. There was a wide disparity between the heart rate and pulse rate with a radio-radial delay. The respiratory and digestive systems were essentially stable. Transtemporal and trans-posterior fontanelles USS showed hydrocephalus in the lateral ventricles. A brain CT scan showed intracranial defects in the posterior fossa. Based on the haemangioma, posterior fossa brain malformation, cardiovascular, ocular, and signs of cerebrovascular anomalies, the diagnosis of PHACE syndrome was made. A multi-disciplinary treatment approach was thimplemented. However, the patient died on the 29 day of life. Conclusion: PHACE syndrome is a rare condition that has only been described three hundred times in medical literature. The Multidisciplinary approach to management can be challenging in low-resource settings. However, knowledge of the features is crucial for the diagnosis and proper management of PHACE syndrome patients

Comprehensive neurological evaluation of a cohort of patients with neurofibromatosis type 1 from a single institution

Neurofibromatosis type 1 (NF1) is a phenotypically heterogenous multisystem cancer predisposition syndrome manifesting in childhood and adolescents. Central nervous system (CNS) manifestations include structural, neurodevelopmental, and neoplastic disease. We aimed to (1) characterize the spectrum of CNS manifestations of NF1 in a paediatric population, (2) explore radiological features in the CNS by image analyses, and (3) correlate genotype with phenotypic expression for those with a genetic diagnosis. We performed a database search in the hospital information system covering the period between January 2017 and December 2020. We evaluated the phenotype by retrospective chart review and imaging analysis. 59 patients were diagnosed with NF1 [median age 10.6 years (range, 1.1-22.6); 31 female] at last follow-up, pathogenic NF1 variants were identified in 26/29. 49/59 patients presented with neurological manifestations including 28 with structural and neurodevelopmental findings, 16 with neurodevelopmental, and 5 with structural findings only. Focal areas of signal intensity (FASI) were identified in 29/39, cerebrovascular anomalies in 4/39. Neurodevelopmental delay was reported in 27/59 patients, learning difficulties in 19/59. Optic pathway gliomas (OPG) were diagnosed in 18/59 patients, 13/59 had low-grade gliomas outside the visual pathways. 12 patients received chemotherapy. Beside the established NF1 microdeletion, neither genotype nor FASI were associated with the neurological phenotype. NF1 was associated with a spectrum of CNS manifestations in at least 83.0% of patients. Regular neuropsychological assessment complementing frequent clinical and ophthalmologic testing for OPG is necessary in the care of each child with NF1.

Germline genetic mutations in pediatric cerebrovascular anomalies: a multidisciplinary approach to screening, testing, and management.

Genetic alterations are increasingly recognized as etiologic factors linked to the pathogenesis and development of cerebrovascular anomalies. Their identification allows for advanced screening and targeted therapeutic approaches. The authors aimed to describe the role of a collaborative approach to care and genetic testing in pediatric patients with neurovascular anomalies, with the objectives of identifying what genetic testing recommendations were made, the yield of genetic testing, and the implications for familial screening and management at present and in the future. The authors performed a descriptive retrospective cohort study examining pediatric patients genetically screened through the Pediatric Neurovascular Program of a single treatment center. Patients 18 years of age and younger with neurovascular anomalies, diagnosed radiographically or histopathologically, were evaluated for germline genetic testing. Patient demographic data and germline genetic testing and recommendation, clinical, treatment, and outcome data were collected and analyzed. Sixty patients were included; 29 (47.5%) were female. The mean age at consultation was 11.0 ± 4.9 years. Diagnoses included cerebral arteriovenous malformations (AVMs) (n = 23), cerebral cavernous malformations (n = 19), non-neurofibromatosis/non-sickle cell moyamoya (n = 8), diffuse cerebral proliferative angiopathy, and megalencephaly-capillary malformation. Of the 56 patients recommended to have genetic testing, 40 completed it. Genetic alterations were found in 13 (23%) patients. Four patients with AVMs had RASA1, GDF2, and ACVRL1 mutations. Four patients with cavernous malformations had Krit1 mutations. One with moyamoya disease had an RNF213 mutation. Three patients with megalencephaly-capillary malformation had PIK3CA mutations, and 1 patient with a cavernous sinus lesion had an MED12 mutation. The majority of AVM patients were treated surgically. Patients with diffuse cerebral proliferative angiopathy were treated medically with sirolimus. At-risk relatives of 3 patients positive for genetic anomalies had also been tested. This study demonstrates a role for exploring genetic alterations in the identification and treatment of pediatric neurovascular disease pathogenesis. Germline genetic mutations were found in almost one-quarter of the patients screened in this study, results that helped to identify medically targeted treatment modalities for some pediatric neurovascular patients. Insight into the genetic etiology of vascular anomalies may provide broader clinical implications for risk assessment, family screening, follow-up surveillance, and medical management.

Increasing precision in the management of pediatric neurosurgical cerebrovascular diseases with molecular genetics.

Recent next-generation DNA and RNA sequencing studies of congenital and pediatric cerebrovascular anomalies such as moyamoya disease, arteriovenous malformations, vein of Galen malformations, and cavernous malformations have shed new insight into the genetic regulation of human cerebrovascular development by implicating multiple novel disease genes and signaling pathways in the pathogenesis of these disorders. These diseases are now beginning to be categorized by molecular disruptions in canonical signaling pathways that impact the differentiation and proliferation of specific venous, capillary, or arterial cells during the hierarchical development of the cerebrovascular system. Here, the authors discuss how the continued study of these and other congenital cerebrovascular conditions has the potential to replace the current antiquated, anatomically based disease classification systems with a molecular taxonomy that has the potential to increase precision in genetic counseling, prognostication, and neurosurgical and endovascular treatment stratification. Importantly, the authors also discuss how molecular genetic data are already informing clinical trials and catalyzing the development of targeted therapies for these conditions historically considered as exclusively neurosurgical lesions.

Comparison of Diffusion Tensor Imaging Metrics in Normal-Appearing White Matter to Cerebrovascular Lesions and Correlation with Cerebrovascular Disease Risk Factors and Severity.

Alterations in tissue microstructure in normal-appearing white matter (NAWM), specifically measured by diffusion tensor imaging (DTI) fractional anisotropy (FA), have been associated with cognitive outcomes following stroke. The purpose of this study was to comprehensively compare conventional DTI measures of tissue microstructure in NAWM to diverse vascular brain lesions in people with cerebrovascular disease (CVD) and to examine associations between FA in NAWM and cerebrovascular risk factors. DTI metrics including fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD) were measured in cerebral tissues and cerebrovascular anomalies from 152 people with CVD participating in the Ontario Neurodegenerative Disease Research Initiative (ONDRI). Ten cerebral tissue types were segmented including NAWM, and vascular lesions including stroke, periventricular and deep white matter hyperintensities, periventricular and deep lacunar infarcts, and perivascular spaces (PVS) using T1-weighted, proton density-weighted, T2-weighted, and fluid attenuated inversion recovery MRI scans. Mean DTI metrics were measured in each tissue region using a previously developed DTI processing pipeline and compared between tissues using multivariate analysis of covariance. Associations between FA in NAWM and several CVD risk factors were also examined. DTI metrics in vascular lesions differed significantly from healthy tissue. Specifically, all tissue types had significantly different MD values, while FA was also found to be different in most tissue types. FA in NAWM was inversely related to hypertension and modified Rankin scale (mRS). This study demonstrated the differences between conventional DTI metrics, FA, MD, AD, and RD, in cerebral vascular lesions and healthy tissue types. Therefore, incorporating DTI to characterize the integrity of the tissue microstructure could help to define the extent and severity of various brain vascular anomalies. The association between FA within NAWM and clinical evaluation of hypertension and disability provides further evidence that white matter microstructural integrity is impacted by cerebrovascular function.

Intracerebral hemorrhage as a rare manifestation in a patient with neurofibromatosis-1 and quasi-Moyamoya disease

Neurofibromatosis-1 (NF-1) is an autosomal dominant neurocutaneous syndrome with incomplete penetrance and variable phenotypic expressivity. Although it may affect any system of the body, the disease remains generally innocuous. NF-1 has been commonly linked to neurological symptoms, including headaches, seizures, cognitive deficits, and learning disabilities, and others. While optic glioma is the most common CNS complication, vasculopathy and cerebrovascular anomalies have also been rarely reported. Specifically, intracerebral hemorrhage with vascular stenosis in NF-1 is an extremely rare manifestation. Herein, we report a patient with NF-1 presenting with stroke secondary to intracranial hemorrhage and underlying quasi-Moyamoya disease. Since the cutaneous features of NF-1 appear early in life and are striking, dermatologists might be the first contact for such patients with the medical system, and consequently play an important role in the diagnosis, evaluation, and prevention of complications.

Cerebral Arterial Stenosis Detection Based on a Retained Two‐Stage Detection Algorithm

Stroke is one of the fatal diseases worldwide, and its primary mechanism is produced by cerebrovascular stenosis, blockages, or embolisms. Computer‐aided diagnosis can assist clinical practitioners in identifying cerebrovascular anomalies, elucidating the precise lesions’ location in the patients, and providing guidance for clinical therapy. Due to different portions of the cerebrovascular possessing diverse morphological properties and the limited narrow area, the detection effect is unsatisfactory. A retrained two‐stage algorithm for detecting cerebral arterial stenosis in CTA images is proposed to solve these problems by further fusing image features and improving the quality of regions of interest. In Faster R‐CNN and Libra R‐CNN, the backbone network was Resnet50, with deformable convolutional and nonlocal neural networks introduced in the third, fourth, and fifth stages of the backbone network. Deformable convolutional networks learned offsets to extract morphological features of blood vessels in different tomographic planes. Nonlocal neural networks fused global information and extracted global features from location information of feature maps. A cascade detector refined object classification and bounding box regression before prediction. The experimental results show that the retained algorithm increases mAP by 7.3% and 7.5%, respectively, compared with Faster R‐CNN and Libra R‐CNN. Deformable convolutional networks, nonlocal neural networks, and cascade detectors are incorporated into further feature fusion; thus, semantic information about the cerebrovascular structure is learned, demonstrating more accurate stenotic region detection and demonstrating generalizability across different two‐stage algorithms.

Neuroradiological findings in Alagille syndrome.

Alagille syndrome (ALGS) is a multisystemic disease caused by mutations in genes of Notch pathway, which regulates embryonic cell differentiation and angiogenesis. Clinically, ALGS is characterized by cholestasis, cardiac defects, characteristic facial features, skeletal and ophthalmologic abnormalities. The aim of this review is to illustrate neuroradiological findings in ALGS, which are less well-known and prevalent, including cerebrovascular anomalies (such as aneurysms, dolichoectasia, Moyamoya syndrome and venous peculiarities), Chiari 1 malformation, craniosynostosis, intracranial hypertension, and vertebral anomalies (namely butterfly vertebra, hemivertebra, and craniocervical junction anomalies). Rarer cerebral midline malformations and temporal bone anomalies have also been described.

Cerebrovascular Anomalies: Perspectives From Immunology and Cerebrospinal Fluid Flow.

Appropriate vascular function is essential for the maintenance of central nervous system homeostasis and is achieved through virtue of the blood-brain barrier; a specialized structure consisting of endothelial, mural, and astrocytic interactions. While appropriate blood-brain barrier function is typically achieved, the central nervous system vasculature is not infallible and cerebrovascular anomalies, a collective terminology for diverse vascular lesions, are present in meningeal and cerebral vasculature supplying and draining the brain. These conditions, including aneurysmal formation and rupture, arteriovenous malformations, dural arteriovenous fistulas, and cerebral cavernous malformations, and their associated neurological sequelae, are typically managed with neurosurgical or pharmacological approaches. However, increasing evidence implicates interacting roles for inflammatory responses and disrupted central nervous system fluid flow with respect to vascular perturbations. Here, we discuss cerebrovascular anomalies from an immunologic angle and fluid flow perspective. We describe immune contributions, both common and distinct, to the formation and progression of diverse cerebrovascular anomalies. Next, we summarize how cerebrovascular anomalies precipitate diverse neurological sequelae, including seizures, hydrocephalus, and cognitive effects and possible contributions through the recently identified lymphatic and glymphatic systems. Finally, we speculate on and provide testable hypotheses for novel nonsurgical therapeutic approaches for alleviating neurological impairments arising from cerebrovascular anomalies, with a particular emphasis on the normalization of fluid flow and alleviation of inflammation through manipulations of the lymphatic and glymphatic central nervous system clearance pathways.