1,725 results match your criteria Sturge-Weber Syndrome


[Glaucoma due to elevated episcleral venous pressure].

Ophthalmologe 2018 Nov 30. Epub 2018 Nov 30.

Klinik und Poliklinik für Augenheilkunde, Klinikum der Universität Regensburg, Franz-Josef-Strauß-Allee 11, 93053, Regensburg, Deutschland.

Background: Glaucoma due to elevated episcleral venous pressure is a rare and difficult to treat form of secondary open angle glaucoma.

Objective: The pathophysiology, clinical findings, differential diagnosis and treatment options are discussed. Radius-Maumenee syndrome, Sturge-Weber syndrome and carotid-cavernous sinus fistulas are covered in particular. Read More

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November 2018

The Rare Neurocutaneous Disorders: Update on Clinical, Molecular, and Neuroimaging Features.

Top Magn Reson Imaging 2018 Dec;27(6):433-462

Division of Pediatric Radiology and Pediatric Neuroradiology, Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD.

Phakomatoses, also known as neurocutaneous disorders, comprise a vast number of entities that predominantly affect structures originated from the ectoderm such as the central nervous system and the skin, but also the mesoderm, particularly the vascular system. Extensive literature exists about the most common phakomatoses, namely neurofibromatosis, tuberous sclerosis, von Hippel-Lindau and Sturge-Weber syndrome. However, recent developments in the understanding of the molecular underpinnings of less common phakomatoses have sparked interest in these disorders. Read More

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December 2018
5 Reads

Endoscope-assisted (with robotic guidance and using a hybrid technique) interhemispheric transcallosal hemispherotomy: a comparative study with open hemispherotomy to evaluate efficacy, complications, and outcome.

Authors:

J Neurosurg Pediatr 2018 Nov 1:1-11. Epub 2018 Nov 1.

OBJECTIVEEndoscope-assisted hemispherotomy (EH) has emerged as a good alternative option for hemispheric pathologies with drug-resistant epilepsy.METHODSThis was a prospective observational study. Parameters measured included primary outcome measures (frequency, severity of seizures) and secondary outcomes (cognition, behavior, and quality of life). Read More

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November 2018
4 Reads

Hypothesis: Presymptomatic treatment of Sturge-Weber Syndrome With Aspirin and Antiepileptic Drugs May Delay Seizure Onset.

Pediatr Neurol 2018 Nov 24. Epub 2018 Nov 24.

Department of Neurology, Hugo Moser Kennedy Krieger Research Institute, Baltimore, Maryland; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland; Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland. Electronic address:

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November 2018

Bilateral Phacomatosis Pigmentovascularis in a Young Male with Developmental Glaucoma and Varicose Veins.

J Curr Glaucoma Pract 2018 May-Aug;12(2):94-98. Epub 2018 Aug 1.

Senior Resident, Guru Nanak Eye Centre, Maulana Azad Medical College, New Delhi, India.

Aim: To report a case of bilateral phacomatosis pigmentovascularis (PPV), in a young male,presenting with developmental glaucoma and high myopia along with systemic features of klippel trenanauy weber (KTW) syndrome.

Background: The co-existence of oculodermal melanocytosis (ODM)and port-wine stain was termed PPV by Ota. Port-wine stain presents as part of Sturge-Weber syndrome (SWS). Read More

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August 2018
3 Reads

Systemic Associations of Childhood Glaucoma: A Review.

J Pediatr Ophthalmol Strabismus 2018 Nov;55(6):397-402

Purpose: To review systemic associations of childhood glaucoma.

Methods: Patients younger than 15 years and diagnosed as having glaucoma were divided into four groups: isolated primary congenital glaucoma, glaucoma with other congenital ocular anomalies, congenital glaucoma with known systemic diseases, and secondary glaucoma. Prevalence and type of systemic associations in each group were studied. Read More

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November 2018
2 Reads

Genetic Evaluation of Common Neurocutaneous Syndromes.

Pediatr Neurol 2018 Dec 10;89:3-10. Epub 2018 Aug 10.

Department of Pediatric Genetics, Dokuz Eylül University Medical School, Izmir, Turkey.

The neurocutaneous syndromes are a group of multisystem disorders that affect the skin and central nervous system. Neurofibromatosis 1, neurofibromatosis 2, tuberous sclerosis complex, and Sturge-Weber syndrome are the four major neurocutaneous disorders that mainly present in childhood. In this review, we discuss the clinical findings and genetic diagnosis, related genes/pathways and genotype-phenotype correlations of these four neurocutaneous syndromes. Read More

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December 2018
4 Reads

Association of Somatic GNAQ Mutation With Capillary Malformations in a Case of Choroidal Hemangioma.

JAMA Ophthalmol 2018 Oct 25. Epub 2018 Oct 25.

Vascular Biology Program, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.

Importance: Choroidal hemangiomas are defined by a thickened choroid owing to vessel overgrowth, which may increase the intraocular pressure and lead to glaucoma. Choroidal hemangioma and glaucoma often co-occur in patients with Sturge-Weber syndrome, a rare neurocutaneous disorder characterized by capillary malformations.

Objective: To determine whether the mutation found in most capillary malformations, GNAQ R183Q (c. Read More

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October 2018
4 Reads

Invasive monitoring after resection of epileptogenic neocortical lesions in multistaged epilepsy surgery in children.

Epilepsy Res 2018 Dec 19;148:48-54. Epub 2018 Sep 19.

Division of Pediatric Neurosurgery, Department of Surgery, Texas Children's Hospital and Department of Neurosurgery, Baylor College of Medicine, Houston, TX, USA.

Objective: Incomplete resection of neocortical epileptogenic foci correlates with failed epilepsy surgery in children. We often treat patients with neocortical epilepsy with a staged approach using invasive monitoring to localize the focus, resect the seizure onset zone, and, in select cases, post-resection invasive monitoring (PRM). We report the technique and the outcomes of children treated with staged surgery including PRM. Read More

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December 2018
3 Reads

Pediatric Congenital Cerebrovascular Anomalies.

J Neuroimaging 2018 Oct 31. Epub 2018 Oct 31.

Department of Interventional Radiology, Sanford Aberdeen Clinic, Aberdeen, SD.

Congenital cerebrovascular anomalies in the pediatric age group are myriad with diverse etiologies. The purpose of this paper is to provide an imaging overview of congenital vascular malformations and vascular tumors, as these conditions are varied and the characteristic vascular abnormality may even suggest the underlying systemic condition in helping to guide further management. For example, the identification of an arterial anomaly such as agenesis/hypoplasia/duplication may warrant further evaluation for an associated syndrome. Read More

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October 2018
9 Reads

Yield of Emergent Neuroimaging in Patients With Sturge-Weber Syndrome Presenting With Acute Neurologic Symptoms.

J Child Neurol 2018 Oct 31:883073818801635. Epub 2018 Oct 31.

2 Department of Radiology, Boston Children's Hospital, Boston, MA, USA.

Background/aims:: Seizures, strokelike episodes, and headaches are common complications in patients with Sturge-Weber syndrome. Based on our experience, we hypothesized that patients with Sturge-Weber syndrome have frequent urgent neuroimaging studies when presenting acutely to the emergency department. In this study, we aimed to determine the incidence of acute imaging studies in this patient population and to evaluate the prevalence of findings such as acute intracranial hemorrhagic or ischemic strokes. Read More

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October 2018
7 Reads

Sturge-Weber syndrome.

QJM 2018 Oct 24. Epub 2018 Oct 24.

Department of Neurology, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan, R.O.C.

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October 2018

Ahmed valve implantation in childhood glaucoma associated with Sturge-Weber syndrome: our experience.

Eye (Lond) 2018 Oct 18. Epub 2018 Oct 18.

Department of Ophthalmology, Army Hospital (Research and Referral), Delhi Cantt, New Delhi, 110010, India.

Purpose: To evaluate the efficacy and safety of Ahmed valve implantation in childhood glaucoma associated with Sturge-Weber syndrome (SWS).

Methods: A retrospective chart review of patients who underwent primary Ahmed valve implantation in childhood glaucoma associated with SWS. The outcome measures were success rate (Intraocular pressure (IOP) >5 and <21 mm Hg without additional surgical maneuver), and operative complications. Read More

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October 2018
1 Read
1.900 Impact Factor

An unusual case of acoria in Sturge-Weber syndrome.

Eur J Ophthalmol 2018 Oct 7:1120672118804795. Epub 2018 Oct 7.

2 Clínica Oftalmológica Rahhal, Valencia, Spain.

We present an unusual case of Sturge-Weber syndrome whose main clinical manifestations were nevus flammeus, seizures, glaucoma, and acoria. To our knowledge, the combination of Sturge-Weber syndrome and acoria has not been previously reported. Read More

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October 2018
6 Reads

Less known aspects of central hypothyroidism: Part 2 - Congenital etiologies.

J Clin Transl Endocrinol 2018 Dec 27;14:5-11. Epub 2018 Sep 27.

Department of Medical Endocrinology and Metabolism, Rigshospitalet, National University Hospital, Copenhagen University, Copenhagen, Denmark.

Central hypothyroidism (CH) occurs approximately in 1:50,000, and therefore is expected to be one thousand times rarer compared with primary hypothyroidism. Despite its rarity in the general population, it is much more common in certain disorders, in which it is frequently associated with other pituitary hormone deficiencies. The aim of this paper is to provide an updated review on the frequency of congenital CH, which is <1:50,000, and on its etiology, disregarding CH caused by other genetic defects, such as mutations of transcription factors involved in pituitary organogenesis or mutations of the genes encoding TRH or TRH receptor. Read More

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December 2018
12 Reads

Detailed Clinical and Electrophysiological Illustration of a Patient with Sturge-Weber Syndrome Presenting with Prolonged Transient Neurological Symptoms.

Authors:
Halil Onder

J Neurosci Rural Pract 2018 Oct-Dec;9(4):608-612

Neurology Clinic, Yozgat City Hospital, Yozgat, Turkey.

Although transient neurological deficits in Sturge-Weber syndrome (SWS) have been acknowledged for many years, the underlying pathogenesis still constitutes a major topic of discussion. Here, we present the case of a 10-year-old boy with SWS presenting with a progressive clinically mimicking right middle cerebral artery syndrome. Cranial magnetic resonance imaging showed unremarkable findings except extensive right hemisphere leptomeningeal angiomas. Read More

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October 2018

Combined cilioretinal artery and hemi-retinal vein occlusion in Sturge Weber syndrome: Expanding the clinical spectrum.

Saudi J Ophthalmol 2018 Jul-Sep;32(3):234-237. Epub 2017 Aug 5.

Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

A 9-year-old boy with the diagnosis of Sturge-Weber Syndrome, and port-wine stain involving the right side of the face, presented with acute visual loss of the right eye. Examination revealed a high intraocular pressure and a combined cilioretinal artery and inferior hemi-retinal vein occlusion in the right eye. Systemic work-up was negative. Read More

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August 2017
1 Read

Autism spectrum disorder, social communication difficulties, and developmental comorbidities in Sturge-Weber syndrome.

Epilepsy Behav 2018 Nov 6;88:1-4. Epub 2018 Sep 6.

Neurosciences Department, Great Ormond Street Hospital NHS Foundation Trust, London, UK; Developmental Neurosciences Programme of the UCL Institute of Child Health, London, UK. Electronic address:

Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by the combination of a facial naevus flammeus and pial angioma, often associated with learning difficulties and/or epilepsy. Here, we report on the neuropsychological characteristics of a cohort of 92 children with SWS seen at a national referral center between 2002 and 2015. Almost a quarter (24%) had a diagnosis of autism spectrum disorder (ASD), with 45% overall having evidence of social communication difficulties (SCD). Read More

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November 2018
6 Reads

Targeting nucleotide exchange to inhibit constitutively active G protein α subunits in cancer cells.

Sci Signal 2018 Sep 4;11(546). Epub 2018 Sep 4.

Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO 63110, USA.

Constitutively active G protein α subunits cause cancer, cholera, Sturge-Weber syndrome, and other disorders. Therapeutic intervention by targeted inhibition of constitutively active Gα subunits in these disorders has yet to be achieved. We found that constitutively active Gα in uveal melanoma (UM) cells was inhibited by the cyclic depsipeptide FR900359 (FR). Read More

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September 2018
1 Read

Preoperative evaluation and surgical management of infants and toddlers with drug-resistant epilepsy.

Neurosurg Focus 2018 Sep;45(3):E3

Division of Child Neurology, Department of Pediatrics, Nationwide Children's Hospital and The Ohio State University College of Medicine, Columbus, Ohio.

OBJECTIVE Despite perioperative risks, epilepsy surgery represents a legitimate curative or palliative treatment approach for children with drug-resistant epilepsy (DRE). Several factors characterizing infants and toddlers with DRE create unique challenges regarding optimal evaluation and management. Epilepsy surgery within children < 3 years of age has received moderate attention in the literature, including mainly case series and retrospective studies. Read More

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September 2018
6 Reads

Anesthesia Management of Vitrectomy in a Patient with Sturge-Weber Syndrome.

Tanaffos 2018 Jan;17(1):57-61

Department of Anesthesiology, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Sturge-Weber syndrome (SWS) is a neurocutaneous disorder, characterized by leptomeningeal angiomas involving the oral cavity, trachea, larynx, and face. Herein, we present a case of vitrectomy in a seven-year-old boy with SWS. The patient showed hemangioma on the left side of his face, as well as mental retardation and epilepsy. Read More

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January 2018
8 Reads

Gαq and hyper-phosphorylated ERK expression in Sturge-Weber syndrome leptomeningeal blood vessel endothelial cells.

Vasc Med 2018 Aug 16:1358863X18786068. Epub 2018 Aug 16.

1 Department of Neurology & Developmental Medicine, Hugo W Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA.

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Clinico-radiological approach to cerebral hemiatrophy.

Childs Nerv Syst 2018 Dec 6;34(12):2377-2390. Epub 2018 Aug 6.

Department of Neuroradiology, Great Ormond Street Hospital NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, United Kingdom.

Introduction: Cerebral hemiatrophy is an uncommon neuroimaging finding of diverse etiologies, conventionally classified into two broad categories: congenital and acquired. The authors propose an alternative pragmatic clinical approach to cerebral hemiatrophy, classifying its diverse etiologies into a single event insult such as an in utero stroke, or a progressive disorder from an inflammatory or neoplastic process, the latter of which needs urgent intervention and will be the focus of our review paper. Illustrative cases will also be presented to facilitate the understanding of the discussed disorders. Read More

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December 2018
3 Reads

Courtesy Stigma and Social Support: An Exploration of Fathers' Buffering Strategies and Blocking Rationalizations.

Health Commun 2018 Aug 1:1-12. Epub 2018 Aug 1.

b Department of Communication , Rollins College.

This study extends scholarship on stigma management communication and social support by exploring the experiences of fathers of children living with a rare health condition, Sturge-Weber Syndrome. Findings from this interview-based interpretive study reveal that fathers assuaged the negative effects of stigma on their children-and courtesy stigma on themselves-by employing buffering strategies, including reactive and preemptive information sharing, preparatory conversations, and support blocking. Further, fathers offered three rationalizations for their blocking behaviors-reasoning that to accept support would violate social norms, as well as privacy expectations and that accepting support was not worth the effort (social exchange). Read More

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August 2018
1 Read

The Bone Does Not Predict the Brain in Sturge-Weber Syndrome.

AJNR Am J Neuroradiol 2018 Aug 19;39(8):1543-1549. Epub 2018 Jul 19.

From the Department of Paediatric Neuroradiology (R.R.W., O.M.C., D.B., W.K.C., K.M.), Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK

Background And Purpose: It has been hypothesized that skull marrow signal alteration may represent an early disease manifestation of Sturge-Weber syndrome before development of its intracranial manifestations. We alternatively hypothesized that intraosseous changes are associated with the overlying port-wine stain rather than the intracranial stigmata of Sturge-Weber syndrome and hence are not a predictor of brain involvement.

Materials And Methods: MR imaging of children presenting with port-wine stain and/or Sturge-Weber syndrome between 1998 and 2017 was evaluated by 2 pediatric neuroradiologists for marrow signal abnormality and pial angioma and other Sturge-Weber syndrome features: ocular hemangioma, atrophy, and white matter changes (advanced myelination). Read More

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August 2018
11 Reads

Retrospective review of screening for Sturge-Weber syndrome with brain magnetic resonance imaging and electroencephalography in infants with high-risk port-wine stains.

Pediatr Dermatol 2018 Sep 18;35(5):575-581. Epub 2018 Jul 18.

Department of Dermatology, Eastern Health, Monash University, Melbourne, Vic., Australia.

Background: There is a lack of consensus regarding how best to screen children with facial port-wine stains for Sturge-Weber syndrome. Many favor brain magnetic resonance imaging, and adjunctive electroencephalography is increasingly used. However, the sensitivity, specificity, and negative and positive predictive value of magnetic resonance imaging and electroencephalography and whether screening improves seizure recognition is unclear. Read More

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September 2018
6 Reads

Clinical Outcome of Nonfistulous Cerebral Varices: the Analysis of 39 Lesions.

J Korean Neurosurg Soc 2018 Jul 1;61(4):485-493. Epub 2018 Jul 1.

Department of Neurosurgery, Seoul National University Hospital, Seoul, Korea.

Objective: Cerebral varices (CVs) without an arteriovenous shunt, so called nonfistulous CVs, are very rare, and their etiology and natural course are not well understood. The aim of this study is to evaluate the clinical outcomes of nonfistulous CVs by the analysis of 39 cases.

Methods: From 2000 to 2015, 22 patients with 39 nonfistulous CVs (≥5 mm) were found by searching the medical and radiologic records of our institute. Read More

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July 2018
4 Reads

[CNS manifestations of neurocutaneous syndromes].

Authors:
Umut Yilmaz

Radiologe 2018 Jul;58(7):664-667

Klinik für Diagnostische und Interventionelle Neuroradiologie, Universitätsklinikum des Saarlandes, Kirrberger Straße, 66424, Homburg-Saar, Deutschland.

Clinical/methodical Issue: Phakomatoses refer to a heterogeneous and inconsistently defined group of neurocutaneous disorders. Tuberous sclerosis, neurofibromatosis types 1 and 2, Sturge-Weber syndrome and von Hippel-Lindau disease are entities with typical findings in neuroimaging studies STANDARD RADIOLOGICAL METHODS: These findings are usually easily depicted on magnetic resonance imaging (MRI) studies, thus, making diagnosis easier. Read More

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July 2018
2 Reads

Saving PHACE.

Pediatr Neurol 2018 Aug 3;85:82-83. Epub 2018 May 3.

Department of Pediatrics, Baylor College of Medicine, The Children's Hospital of San Antonio, San Antonio, Texas. Electronic address:

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A Multidisciplinary Consensus for Clinical Care and Research Needs for Sturge-Weber Syndrome.

Pediatr Neurol 2018 Jul 18;84:11-20. Epub 2018 Apr 18.

Department of Neurology and Rehabilitation, University of Illinois, Chicago, Illinois. Electronic address:

Background: Sturge-Weber syndrome is a neurocutaneous disorder associated with port-wine birthmark, leptomeningeal capillary malformations, and glaucoma. It is associated with an unpredictable clinical course. Because of its rarity and complexity, many physicians are unaware of the disease and its complications. Read More

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July 2018
14 Reads
1.500 Impact Factor

Three-dimensional Photogrammetric Analysis of Facial Soft-to-Hard Tissue Ratios After Bimaxillary Surgery in Facial Asymmetry Patients With and Without Sturge-Weber Syndrome.

Ann Plast Surg 2018 Aug;81(2):178-185

Eastman Dental Clinic, Seoul, Korea.

Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome characterized by facial port-wine stains. Most patients with facial asymmetry due to SWS have soft and/or hard tissue hypertrophy and require both soft tissue correction and bone surgery. In our experience, because SWS patients are more likely than non-SWS patients to be dissatisfied after bone surgery because of limited soft tissue change, we compared soft tissue changes after bimaxillary surgery between facial asymmetry patients with and without SWS. Read More

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August 2018
6 Reads

Sturge-Weber syndrome-associated glaucoma and intraocular osseous metaplasia: a unique complicated case.

BMJ Case Rep 2018 May 16;2018. Epub 2018 May 16.

Department of Ophthalmology, Bogomolets National Medical University, Kyiv, Ukraine.

A 30-year-old European man was admitted to our centre complaining about severe pain of the right eye (OD) and right part of the face, redness and no vision of the OD. He had an 18-year history of secondary to Sturge-Weber syndrome glaucoma, 6-month history of red eye and 1-week history of pain in OD. The best-corrected visual acuity was no light perception OD and 20/20 OS. Read More

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May 2018
3 Reads

Quantitative Apparent Diffusion Coefficient Mapping May Predict Seizure Onset in Children With Sturge-Weber Syndrome.

Pediatr Neurol 2018 Jul 12;84:32-38. Epub 2018 Apr 12.

Departments of Medicine and Radiology, Boston Children's Hospital, Boston, Massachusetts.

Background: Sturge-Weber syndrome (SWS) is often accompanied by seizures, stroke-like episodes, hemiparesis, and visual field deficits. This study aimed to identify early pathophysiologic changes that exist before the development of clinical symptoms and to evaluate if the apparent diffusion coefficient (ADC) map is a candidate early biomarker of seizure risk in patients with SWS.

Methods: This is a prospective cross-sectional study using quantitative ADC analysis to predict onset of epilepsy. Read More

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July 2018
3 Reads

Somatic mutation in the of Sturge-Weber syndrome.

Neurol Genet 2018 Jun 1;4(3):e236. Epub 2018 May 1.

Department of Medicine (Austin Hospital) (M.S.H., J.A.D., Z.Y., L.M., I.E.S., S.F.B.), University of Melbourne, Heidelberg, Victoria, Australia; Murdoch Childrens Research Institute (M.S.H., A.S.H., G.G., K.P., P.J.L., R.J.L.), Parkville, Victoria, Australia; Department of Paediatrics (Royal Children's Hospital) (A.S.H., G.G., K.P., P.J.L., R.J.L., I.E.S.), Department of Pathology (H.D., R.K., A.D), and Department of Medicine (Royal Melbourne Hospital) (E.O., N.C.J.), University of Melbourne, Parkville, Victoria, Australia; Department of Neurology (A.S.H., R.J.L., I.E.S.) and Department of Neurosurgery (W.M.), Royal Children's Hospital, Parkville, Victoria, Australia; Department of Neurosciences (S.M., B.N.) and Neurosurgical Department (M.W.), Lady Cilento Children's Hospital, Brisbane, Queensland, Australia; Translational Genomics and Epigenomics Laboratory (H.D., A.D.), Olivia Newton-John Cancer Research Institute, Heidelberg, Victoria, Australia; School of Cancer Medicine (H.D., A.D.), La Trobe University, Bundoora, Victoria, Australia; Anatomical Pathology (R.K.), Austin Health, Heidelberg, Victoria, Australia; Department of Neuroscience (N.C.J.), Central Clinical School, Monash University, Victoria, Australia; and Department of Neurology (N.C.J.), The Alfred Hospital, Melbourne, Victoria, Australia.

Objective: To determine whether the R183Q mutation is present in the cases of Sturge-Weber syndrome (SWS) to establish a definitive molecular diagnosis.

Methods: We used sensitive droplet digital PCR (ddPCR) to detect and quantify the mutation in tissues from epilepsy surgery in 4 patients with leptomeningeal angiomatosis; none had ocular or cutaneous manifestations.

Results: Low levels of the mutation were detected in the brain tissue of all 4 cases-ranging from 0. Read More

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June 2018
6 Reads

Deep cerebral vein expansion with metabolic and neurocognitive recovery in Sturge-Weber syndrome.

Ann Clin Transl Neurol 2018 Apr 12;5(4):502-506. Epub 2018 Mar 12.

Departments of Pediatrics and Neurology Wayne State University School of Medicine Children's Hospital of Michigan Detroit Medical Center Detroit Michigan.

We present longitudinal imaging data of a child with Sturge-Weber syndrome (SWS). At age 8 months, 3 weeks after initial seizures and prolonged motor deficit, MRI showed extensive right hemispheric SWS involvement with severe glucose hypometabolism on PET. She was treated with levetiracetam and aspirin. Read More

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April 2018
2 Reads

Spikes might precede seizures and predict epilepsy in children with Sturge-Weber syndrome: A pilot study.

Epilepsy Res 2018 07 28;143:75-78. Epub 2018 Mar 28.

Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Hôpital Necker-Enfants Malades, APHP, Paris, France; INSERM U1129, Paris, France; Paris Descartes University, Sorbonne Paris Cité, CEA, Gif sur Yvette, France. Electronic address:

Purpose: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by a facial port-wine stain, a glaucoma, and a leptomeningeal angioma. Epilepsy occurs in more than 75% of affected children, and seizures occurring in the first year of life are associated with a poor neurological prognosis. The aim of this study was to identify possible predictive markers of epilepsy on electroencephalogram (EEG) performed prior to seizure onset in children with SWS. Read More

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July 2018
5 Reads

Epilepsy surgery for patients with genetic refractory epilepsy: a systematic review.

Epileptic Disord 2018 Apr;20(2):99-115

Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht.

In recent years, many different DNA mutations underlying the development of refractory epilepsy have been discovered. However, genetic diagnostics are still not routinely performed during presurgical evaluation and reports on epilepsy surgery outcome for patients with genetic refractory epilepsy are limited. We aimed to create an overview of the literature on seizure outcome following epilepsy surgery in patients with different genetic causes of refractory epilepsy. Read More

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April 2018
4 Reads

Pathophysiology and management of glaucoma associated with phakomatoses.

J Neurosci Res 2019 Jan 1;97(1):57-69. Epub 2018 Apr 1.

Illinois Eye and Ear Infirmary, Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois.

The phakomatoses, encephalotrigeminal angiomatosis (ETA; Sturge-Weber Syndrome), neurofibromatosis type 1 (NF1 or von Recklinghausen disease), Von Hippel-Lindau (VHL) disease, tuberous sclerosis (TSC), oculodermal melanocytosis (ODM), and phakomatosis pigmentovascularis are a group of neurocutaneous disorders that have characteristic systemic and ocular manifestations. Through many different mechanisms, they may cause glaucomatous damage of the optic nerve and subsequent vision loss varying from mild to severe. Glaucoma commonly affects patients with ETA (43-72%), orbito-facial NF1 (23-50%), and ODM (10%). Read More

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January 2019
7 Reads

Acute primary angle-closure in Sturge-Weber syndrome.

Authors:
Wei-Wen Su

Am J Ophthalmol Case Rep 2018 Jun 8;10:101-104. Epub 2018 Feb 8.

Department of Ophthalmology, Chang Gung Memorial Hospital Linkou Branch, Taoyuan Taiwan, ROC.

Purpose: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by facial cutaneous venous dilatation (port-wine stain), leptomeningeal angioma, and ocular abnormalities. Here we report a case of SWS who experienced acute primary angle-closure in the same side of the nevus flammeus.

Observations: A 64-years-old female patient with SWS port wine stain on the left side of her face was referred to our ER for acute primary angle-closure (PAC). Read More

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June 2018
1 Read

A Rare Association of Sturge Weber Syndrome with Neurofibromatosis Type-1.

Indian J Pediatr 2018 08 14;85(8):703-704. Epub 2018 Mar 14.

Columbia Asia Radiology Group, Yeshwanthpur, Bangalore, Karnataka, India.

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August 2018
11 Reads
0.920 Impact Factor

[Research progress of Sturge-Weber syndrome induced glaucoma].

Authors:
Y Wu W Y Guo

Zhonghua Yan Ke Za Zhi 2018 Mar;54(3):229-233

Department of Ophthalmology, Ninth People's Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Shanghai 200011, China.

Sturge-Weber Syndrome is a sporadic rare disease. Its characteristic feature of Port-wine Stain in patient's face has been an important indicator for screening secondary glaucoma, which further provides patients with possibility of early diagnosis and treatment of Sturge-Weber Syndrome induced glaucoma. This paper focuses on the pathogenesis, risk factors and treatment of Sturge-Weber Syndrome secondary glaucoma. Read More

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March 2018
1 Read

Trabeculectomy with Ologen implant versus mitomycin C in congenital glaucoma secondary to Sturge Weber Syndrome.

Int J Ophthalmol 2018 18;11(2):251-255. Epub 2018 Feb 18.

Department of Ophthalmology, Ain Shams University, Cairo 11995, Egypt.

Aim: To compare the efficacy and safety of collagen matrix implant [Ologen (OLO) implant] versus mitomycin C (MMC) with subscleral trabeculectomy (SST) for the surgical treatment of congenital glaucoma (CG) in Sturge-Weber Syndrome (SWS).

Methods: A prospective comparative randomized study of 20 eyes of 16 patients with CG associated with SWS was divided into two groups. The first group (MMC Group) included 10 eyes that were subjected to SST with MMC. Read More

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February 2018
1 Read

Von Hippel-Lindau disease and Sturge-Weber syndrome.

Authors:
Susan Perlman

Handb Clin Neurol 2018 ;148:823-826

Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, United States. Electronic address:

The primary neurologic involvement in both von Hippel-Lindau (VHL) disease and Sturge-Weber syndrome (SWS) is vascular tumor/vascular malformation, but molecular pathogenesis, long-term symptom evolution, and treatment are quite different. VHL is caused by dominant inherited or de novo germline mutations, while SWS is caused by somatic mosaicism. A diagnosis of VHL carries substantial cancer risk, while the clinical issues in SWS are primarily related to the consequences of the intracranial vascular abnormalities. Read More

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August 2018
3 Reads

A child with Apert syndrome and Sturge-Weber syndrome: could fibronectin or the RAS/MAPK signaling pathway be the connection?

Childs Nerv Syst 2018 Jun 23;34(6):1247-1250. Epub 2018 Feb 23.

Great Ormond Street Hospital NHS Foundation Trust, Great Ormond St, London, WC1N 3JH, UK.

Background: Apert syndrome is one of the most common craniosynostosis syndrome caused by mutation in genes encoding fibroblast growth factor receptor 2 (FGFR2). Craniosynostosis, midfacial hypoplasia, and syndactyly/symphalangism are features of this syndrome. Sturge-Weber syndrome (SWS) on the other hand is a congenital neurocutaneous disorder characterized by facial port-wine stains (PWSs) and leptomeningeal vascular capillary malformations. Read More

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June 2018
7 Reads

Brush sign in Sturge-Weber syndrome.

Pediatr Radiol 2018 06 19;48(6):895-896. Epub 2018 Feb 19.

Department of Neurosciences and Mental Health (Neurology), Hospital Santa Maria, Lisbon, Portugal.

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June 2018
3 Reads
1.650 Impact Factor

Neurocutaneous Disorders.

Authors:
Tena Rosser

Continuum (Minneap Minn) 2018 02;24(1, Child Neurology):96-129

Purpose Of Review: This article presents an up-to-date summary of the genetic etiology, diagnostic criteria, clinical features, and current management recommendations for the most common neurocutaneous disorders encountered in clinical adult and pediatric neurology practices.

Recent Findings: The phakomatoses are a phenotypically and genetically diverse group of multisystem disorders that primarily affect the skin and central nervous system. A greater understanding of the genetic and biological underpinnings of numerous neurocutaneous disorders has led to better clinical characterization, more refined diagnostic criteria, and improved treatments in neurofibromatosis type 1, Legius syndrome, neurofibromatosis type 2, Noonan syndrome with multiple lentigines, tuberous sclerosis complex, Sturge-Weber syndrome, and incontinentia pigmenti. Read More

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February 2018
8 Reads

Cognitive and motor outcomes in children with unilateral Sturge-Weber syndrome: Effect of age at seizure onset and side of brain involvement.

Epilepsy Behav 2018 03 3;80:202-207. Epub 2018 Feb 3.

Departments of Pediatrics and Neurology, Wayne State University School of Medicine, Children's Hospital of Michigan, Detroit Medical Center, 3901 Beaubien St., Detroit, MI 48201, USA.

Purpose: Most children with Sturge-Weber syndrome (SWS) develop seizures that may contribute to neurocognitive status. In this study, we tested the hypothesis that very early seizure onset has a particularly detrimental effect on the cognitive and/or motor outcomes of children with unilateral SWS. We also tested whether side of SWS brain involvement modulates the effect of seizure variables on the pattern of cognitive abnormalities. Read More

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March 2018
25 Reads

Results of external beam radiotherapy for diffuse choroidal hemangiomas in Sturge-Weber syndrome.

Eye (Lond) 2018 06 6;32(6):1067-1073. Epub 2018 Feb 6.

Ocular Oncology, Institut Curie, Paris, France.

Purpose: The Sturge-Weber Syndrome (SWS) is a phacomatosis which include facial nevus flammeus, glaucoma, diffuse choroidal hemangioma, and leptomeningeal hemangiomatosis. External beam radiotherapy (EBRT) using photons was used to treat retinal detachment. We investigate the anatomical and functional results in a long-term basis. Read More

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June 2018
5 Reads

Angiodysplastic Sturge Weber syndrome.

BMJ Case Rep 2018 Jan 18;2018. Epub 2018 Jan 18.

Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

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January 2018
7 Reads

Use of antiviral medications in drug reaction with eosinophilia and systemic symptoms (DRESS): A case of infantile DRESS.

Pediatr Dermatol 2018 Mar 15;35(2):e114-e116. Epub 2018 Jan 15.

Department of Dermatology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

A 3-month-old girl with Sturge-Weber syndrome presented with a morbilliform rash, eosinophilia, and fulminant liver failure to our tertiary pediatric hospital. She was diagnosed with drug reaction with eosinophilia and systemic symptoms complicated by viremia and evidence of viral hepatitis on liver biopsy. We discuss the role of viral reactivation in drug reaction with eosinophilia and systemic symptoms and the relevance of antiviral therapy in management. Read More

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March 2018
8 Reads