The Experts below are selected from a list of 1104 Experts worldwide ranked by ideXlab platform
Anne M Comi - One of the best experts on this subject based on the ideXlab platform.
-
atypical intracerebral developmental venous anomalies in Sturge Weber Syndrome a case series and review of literature
Pediatric Neurology, 2020Co-Authors: Aimen S Kasasbeh, Anne M Comi, Amit Kalaria, Doris D M LinAbstract:Abstract Background Intracranial vascular abnormalities in Sturge-Weber Syndrome, including leptomeningeal angiomatosis, anomalous cortical venous structures, and transmedullary developmental venous anomalies, are well recognized. Prominent vascular flow voids on T2-weighted magnetic resonance imaging (MRI) are occasionally identified in patients with Sturge-Weber Syndrome, raising concern of arteriovenous malformations, a congenital high-flow vascular malformation with a risk of bleeding. Methods We report four patients with prominent flow voids on conventional MRI that suggested high-flow lesions. Results Diagnostic evaluation was performed with cerebral angiography in one patient and with a combination of magnetic resonance angiography and magnetic resonance venography in three patients. In all four patients, the conventional MRI-identified lesions represented prominent developmental venous anomalies and not arteriovenous malformations. Conclusions This series highlights that developmental venous anomalies may appear in individuals with Sturge-Weber Syndrome as unusually large and seemingly high-flow lesions on MRI. Noninvasive imaging with magnetic resonance angiography and magnetic resonance venography can be used in the management of such patients for further characterization of these vascular structures.
-
quality of life in children with Sturge Weber Syndrome
Pediatric Neurology, 2019Co-Authors: Kelly A Harmon, Anne M Comi, Karen L. Ball, Alyssa M. Day, Adrienne M Hammill, Anna Pinto, Charles E Mcculloch, Brian J FisherAbstract:Abstract Aim We assessed the utilization of the National Institutes of Health Quality of Life in Neurological Disorders (Neuro-QoL) in pediatric patients with Sturge-Weber Syndrome, a rare neurovascular disorder which frequently results in seizures, brain atrophy, calcification, and a range of neurological impairments. Methods Subjects were seen clinically and consented for research. All 22 patients filled out the Pediatric Neuro-QoL. The Neuro-QoL subscores were converted to T-scores to compare with the referenced control population. Twenty-one participants also filled out the Brain Vascular Malformation Consortium Database Questionnaire containing data pertaining to Sturge-Weber Syndrome–related medical history, medications, comorbidities, and family history. All data were analyzed with a significance threshold of P Results Cognitive function quality of life was significantly lower (P Conclusions The results suggest targeting cognitive function Neuro-QoL in treatment trials and reiterate the prognostic value of early seizure onset. In addition, sex-related differences were noted, which should be further studied.
-
cannabidiol treatment for refractory seizures in Sturge Weber Syndrome
Pediatric Neurology, 2017Co-Authors: Emma H. Kaplan, Anne M Comi, Jacqueline W. Sievers, Elizabeth A OffermannAbstract:Abstract Background Sturge-Weber Syndrome results in leptomeningeal vascular malformations, medically refractory epilepsy, stroke(s), and cognitive impairments. Cannabidiol, a cannabinoid without psychoactive properties, has been demonstrated in preclinical models to possibly have anticonvulsant, antioxidant, and neuroprotective actions. Methods Five subjects with Sturge-Weber Syndrome brain involvement and treatment-resistant epilepsy were enrolled. Motor seizure frequency, quality of life, and adverse events were recorded from the eighth week of the pretreatment period, eight weeks after starting maintenance dose (week 14), and the most recent visit. Results Four subjects had data through week 14, one of whom initially withdrew for lack of efficacy but because of other benefits re-enrolled with a lower dose. Two subjects at week 14 and three subjects with bilateral brain involvement had at the last visit a greater than 50% seizure reduction, reported an improved quality of life, and remained on cannabidiol 63-80 weeks after starting the drug. Three subjects reported mild side effects considered related to cannabidiol. Conclusion This study suggests that cannabidiol may be well tolerated as adjunctive medication for seizure management and provides initial data supporting further study of cannabidiol in individuals with Sturge-Weber Syndrome.
-
epilepsy mechanisms in neurocutaneous disorders tuberous sclerosis complex neurofibromatosis type 1 and Sturge Weber Syndrome
Frontiers in Neurology, 2017Co-Authors: Carl E Stafstrom, Verena Staedtke, Anne M ComiAbstract:Neurocutaneous disorders are multisystem diseases affecting skin, brain, and other organs. Epilepsy is very common in the neurocutaneous disorders, affecting up to 90% of patients with tuberous sclerosis complex and Sturge-Weber Syndrome, for example. The mechanisms underlying the increased predisposition to brain hyperexcitability differ between disorders, yet some molecular pathways overlap. For instance, the mechanistic target of rapamycin (mTOR) signaling cascade plays a central role in seizures and epileptogenesis in numerous acquired and genetic disorders, including several neurocutaneous disorders. Potential routes for target-specific treatments are emerging as the genetic and molecular pathways involved in neurocutaneous disorders become increasingly understood. This review explores the clinical features and mechanisms of epilepsy in three common neurocutaneous disorders – tuberous sclerosis complex, neurofibromatosis type 1, and Sturge-Weber Syndrome.
-
Original Article Sturge-Weber Syndrome: Altered Blood Vessel Fibronectin Expression and Morphology
2016Co-Authors: Anne M Comi, Md Catherine J. C. Weisz, Bs Bridget, H. Highet, Richard L. Skolasky, Carlos A. Pardo, Md Ellen, J. HessAbstract:Sturge-Weber Syndrome is a rare, sporadic disorder marked by an occipital leptomeningeal angioma that generally presents with facial port-wine stain, glaucoma, and neurologic symptoms, includ-ing seizures, hemiparesis, and mental retardation. During embry-ologic development, there is a close proximity of the occipital brain region with the developing eye and ectoderm associated with port-wine stain.1,2 It has been hypothesized that Sturge-Weber Syndrome pathology is due to a somatic mutation affecting local-ized vascular development in the embryo3; however, the putative gene(s) affected is (are) unknown. Functional brain imaging in Sturge-Weber Syndrome demonstrated decreased glucose metab-olism and hypoperfusion of affected cortex.4,5 Recent perfusio
Harry T. Chugani - One of the best experts on this subject based on the ideXlab platform.
-
Neurological Complications of Sturge-Weber Syndrome: Current Status and Unmet Needs.
Pediatric neurology, 2019Co-Authors: Aimee F. Luat, Harry T. Chugani, Csaba Juhász, Jeffrey A. Loeb, Stephen J. Falchek, Badal G. Jain, Carol Greene-roethke, Catherine Amlie-lefond, Karen L. Ball, Amy DavisAbstract:Abstract Objective We aimed to identify the current status and major unmet needs in the management of neurological complications in Sturge-Weber Syndrome. Methods An expert panel consisting of neurologists convened during the Sturge-Weber Foundation Clinical Care Network conference in September 2018. Literature regarding current treatment strategies for neurological complications was reviewed. Results Although strong evidence-based standards are lacking, the implementation of consensus-based standards of care and outcome measures to be shared across all Sturge-Weber Foundation Clinical Care Network Centers are needed. Each patient with Sturge-Weber Syndrome should have an individualized seizure action plan. There is a need to determine the appropriate abortive and preventive treatment of migraine headaches in Sturge-Weber Syndrome. Likewise, a better understanding and better diagnostic modalities and treatments are needed for stroke-like episodes. As behavioral problems are common, the appropriate screening tools for mental illnesses and the timing for screening should be established. Brain magnetic resonance imaging (MRI) preferably done after age one year is the primary imaging modality of choice to establish the diagnosis, although advances in MRI techniques can improve presymptomatic diagnosis to identify patients eligible for preventive drug trials. Conclusion We identified the unmet needs in the management of neurological complications in Sturge-Weber Syndrome. We define a minimum standard brain MRI protocol to be used by Sturge-Weber Syndrome centers. Future multicenter clinical trials on specific treatments of Sturge-Weber Syndrome-associated neurological complications are needed. An improved national clinical database is critically needed to understand its natural course, and for retrospective and prospective measures of treatment efficacy.
-
Original Article Quantitative Assessment of Brain Networks in Children With Sturge-Weber Syndrome Using Resting State Functional Magnetic Resonance Imaging (MRI)
2016Co-Authors: Jeong-won Jeong, Harry T. Chugani, Michael E. Behen, William GuyAbstract:In this study, we examined whether topologic network analysis, using resting state functional magnetic resonance imaging (MRI), can detect abnormalities of functional brain connectivity in children with unilateral brain injury due to Sturge-Weber Syndrome. Three children with Sturge-Weber Syndrome (ages 1, 3, and 10 years) underwent structural and resting state functional MRI, glucose metabolism positron emission tomography (PET), and neurocognitive evaluation. Eight different resting state networks were compared between the affected and unaffected hemispheres by quantitatively accessing communication efficiency measures. Significantly reduced efficiency values were found in all 3 patients. Visual network deficiency was present in both children with a visual field defect; frontal network abnormalities were associated with fine motor impairment. Location of network abnormalities corresponded to and, in some cases, extended beyond structural MRI and glucose PET abnormalities. The presented approach can detect early functional abnormalities of specific brain networks in children with Sturge-Weber Syndrome
-
predictors of cognitive functions in children with Sturge Weber Syndrome a longitudinal study
Pediatric Neurology, 2016Co-Authors: Edit Bosnyak, Harry T. Chugani, Michael E. Behen, William Guy, Eishi Asano, Csaba JuhászAbstract:Abstract Background Sturge–Weber Syndrome is often accompanied by seizures and neurocognitive deterioration, although previous studies have suggested that early functional brain reorganization may diminish the cognitive sequelae in some children with unilateral Sturge–Weber Syndrome. The "rules" governing these plasticity mechanisms are poorly understood. In this study, we evaluated longitudinal changes of cognitive functioning (intelligence quotient [IQ]) and assessed the performance of clinical, electroencephalography (EEG), and magnetic resonance imaging (MRI) variables for predicting IQ in children with Sturge–Weber Syndrome. Methods Thirty-three young children (mean age: 3.3 years at baseline) with unilateral Sturge–Weber Syndrome underwent MRI, scalp EEG, and neuropsychology evaluation twice, with a median follow-up of 2 years. None of the children had epilepsy surgery. Longitudinal IQ changes were calculated. Seizure variables, interictal EEG abnormalities, and extent and location of MRI brain involvement were correlated with IQ assessed at follow-up. Results Global IQ showed a highly variable course with both increases and decreases over time. Lower IQ at baseline was associated with interval IQ increase. In univariate analyses, lower outcome IQ was associated with baseline EEG abnormalities ( P P = 0.001), high seizure frequency ( P = 0.02), and early frontal-lobe involvement on MRI ( P = 0.01). In multivariate analysis, EEG abnormalities at baseline remained a robust, independent predictor of outcome IQ. Conclusions The early trajectory of cognitive changes in children with unilateral Sturge–Weber Syndrome is highly variable; children with improving IQ likely undergo effective unimpeded functional reorganization. Early onset, frequent seizures, and interictal epileptiform abnormalities on EEG likely interfere with this process resulting in poor cognitive functions. Future studies assessing interventions should target this high-risk subgroup to optimize cognitive outcome in Sturge–Weber Syndrome.
-
transition into adulthood tuberous sclerosis complex Sturge Weber Syndrome and rasmussen encephalitis
Epilepsia, 2014Co-Authors: Elizabeth A. Thiele, Tiziana Granata, Sara Matricardi, Harry T. ChuganiAbstract:Summary Children with tuberous sclerosis complex, Sturge-Weber Syndrome, and Rasmussen encephalitis all have complex but differing needs in the process of transition/transfer to adult care. All three may be associated with long-term normal intelligence or a varying degree of intellectual disability. In tuberous sclerosis complex, the emphasis of care in adulthood shifts from seizure control and developmental issues to renal and psychiatric disease and other issues. In Sturge-Weber Syndrome, the emphasis shifts from seizure control and rehabilitation to management of disability and migraine. In Rasmussen encephalitis, transition may be particularly complex for those with adolescent onset. Those successfully operated on for childhood onset have a static problem and the potential to do well in life.
-
patterns of structural reorganization of the corticospinal tract in children with Sturge Weber Syndrome
Pediatric Neurology, 2014Co-Authors: Harry T. Chugani, Michael E. Behen, Csaba Juhász, David Kamson, Joseph Shin, William C GuyAbstract:Abstract Background Reorganization of the corticospinal tract after early damage can limit motor deficit. In this study, we explored patterns of structural corticospinal tract reorganization in children with Sturge-Weber Syndrome. Methods Five children (age 1.5-7 years) with motor deficit resulting from unilateral Sturge-Weber Syndrome were studied prospectively and longitudinally (1-2 years follow-up). Corticospinal tract segments belonging to hand and leg movements were separated and their volume was measured by diffusion tensor imaging tractography using a recently validated method. Corticospinal tract segmental volumes were normalized and compared between the Sturge-Weber Syndrome children and age-matched healthy controls. Volume changes during follow-up were also compared with clinical motor symptoms. Results In the Sturge-Weber Syndrome children, hand-related (but not leg-related) corticospinal tract volumes were consistently decreased in the affected cerebral hemisphere at baseline. At follow-up, two distinct patterns of hand corticospinal tract volume changes emerged. (1) Two children with extensive frontal lobe damage showed a corticospinal tract volume decrease in the lesional hemisphere and a concomitant increase in the nonlesional (contralateral) hemisphere. These children developed good hand grasp but no fine motor skills. (2) The three other children, with relative sparing of the frontal lobe, showed an interval increase of the normalized hand corticospinal tract volume in the affected hemisphere; these children showed no gross motor deficit at follow-up. Conclusions Diffusion tensor imaging tractography can detect differential abnormalities in the hand corticospinal tract segment both ipsi- and contralateral to the lesion. Interval increase in the corticospinal tract hand segment suggests structural reorganization, whose pattern may determine clinical motor outcome and could guide strategies for early motor intervention.
M Bodosi - One of the best experts on this subject based on the ideXlab platform.
-
cerebral venous drainage via the ophthalmic veins in the Sturge Weber Syndrome
Neuroradiology, 1994Co-Authors: B Barath, E Voros, M BodosiAbstract:We describe a 23-year-old girl with an extremely uncommon form of cerebral venous drainage and cerebellar leptomeningeal angiomatosis as a possible variant of the Sturge-Weber Syndrome. Extensive congenital portwine stains all over the body, hypoplastic left renal and subclavian and iliac veins, cardiomegaly and ptosis and hypoplasia of the left kidney had been recognised in early childhood. She rapidly developed signs of intracranial hypertension. CT and MRI showed a right medial temporal lesion. Angiography revealed cerebellar pial angiomatosis with enlarged medullary veins and no functioning sigmoid sinuses or jugular veins. Cerebral venous drainage was via enlarged ophthalmic veins. Although the intracranial venous abnormalities were characteristic of the Sturge-Weber Syndrome anomalies beyond the encephalofacial territory suggested a more complex developmental abnormality.
Amit Agrawal - One of the best experts on this subject based on the ideXlab platform.
-
Periodontal management of gingival enlargement associated with Sturge-Weber Syndrome.
Journal of periodontology, 2008Co-Authors: Rahul Suresh Bhansali, Ramreddy K. Yeltiwar, Amit AgrawalAbstract:Background: Sturge-Weber Syndrome (encephalotrigeminal angiomatosis) is a rather uncommon congenital condition that is characterized by a combination of venous angioma of leptomeninges over the cerebral cortex and ipsilateral angiomatous lesions of the face and sometimes of the skull, jaws, and oral soft tissues. It is commonly referred to as Sturge-Weber Syndrome after Sturge and Weber who first described this affliction in 1879. This article presents a case of Sturge-Weber Syndrome associated with severe gingival enlargement, its management, and follow-up results.Methods: A 15-year-old male patient was referred to the Department of Periodontics, Government Dental College and Hospital, for severe gingival enlargement. A detailed dental and medical history, clinical examination, and investigations confirmed the diagnosis of Sturge-Weber Syndrome. This report reveals a classic presentation of the Syndrome with emphasis on its oral manifestations. Periodontal management included thorough scaling and root pl...
Timothy G. Murray - One of the best experts on this subject based on the ideXlab platform.
-
bilateral diffuse choroidal hemangiomas with unilateral facial nevus flammeus in Sturge Weber Syndrome
American Journal of Ophthalmology, 2000Co-Authors: Arezo Amirikia, Ingrid U. Scott, Timothy G. MurrayAbstract:PURPOSE: To report bilateral choroidal hemangiomas associated with unilateral facial nevus flammeus in Sturge-Weber Syndrome. METHODS: Case report. RESULTS: A 6-year-old male with a left facial nevus flammeus and a history of a left cerebral angioma had been followed 2 years for increasing esotropia. Examination demonstrated bilateral diffuse choroidal hemangiomas with overlying exudative retinal detachments. After bilateral external beam radiotherapy, the retinal detachments resolved and vision improved. CONCLUSION: Patients with Sturge-Weber Syndrome and unilateral facial nevus flammeus may harbor bilateral choroidal hemangiomas. Clinical manifestations of the Sturge-Weber Syndrome are characteristically unilateral and ipsilateral to the facial nevus flammeus. Bilateral choroidal hemangiomas associated with bilateral facial nevus flammeus are rare. 1,2 We report bilateral diffuse choroidal hemangiomas associated with unilateral facial nevus flammeus in Sturge-Weber Syndrome.
