1,591 results match your criteria Sturge-Weber Syndrome


A somatic missense mutation in GNAQ causes capillary malformation.

Curr Opin Hematol 2019 Mar 11. Epub 2019 Mar 11.

Department of Surgery, Vascular Biology Program, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Purpose Of Review: Capillary malformations, the most common type of vascular malformation, are caused by a somatic mosaic mutation in GNAQ, which encodes the Gαq subunit of heterotrimeric G-proteins. How the single amino acid change - predicted to activate Gαq - causes capillary malformations is not known but recent advances are helping to unravel the mechanisms.

Recent Findings: The GNAQ R183Q mutation is present not only in endothelial cells isolated from skin and brain capillary malformations but also in brain tissue underlying the capillary malformation, raising questions about the origin of capillary malformation-causing cells. Read More

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http://dx.doi.org/10.1097/MOH.0000000000000500DOI Listing

Oral healthcare management of a child with phakomatosis pigmentovascularis associated with bilateral Sturge-Weber syndrome.

Spec Care Dentist 2019 Mar 13. Epub 2019 Mar 13.

Department of Pediatric Dentistry and Orthodontics, School of Dentistry, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.

The aim of this report was to describe an approach for a child with phakomatosis pigmentovascularis Type IIb associated with bilateral Sturge-Weber syndrome and autistic spectrum disorder. A 6-year-old boy was referred to the Special Care Dental Clinic with the main complaints of "damaged teeth and pain." The physical examination revealed bilateral port-wine staining on the face, neck, and upper and lower limbs, congenital dermal melanocytosis on the back, and dilated blood vessels in the sclera. Read More

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http://dx.doi.org/10.1111/scd.12372DOI Listing

Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome.

Pediatr Neurol 2018 Dec 20. Epub 2018 Dec 20.

Department of Neurology, Kennedy Krieger Institute, Baltimore, Maryland; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland.

Background: Sturge-Weber syndrome (SWS) is caused by a somatic mutation in GNAQ leading to capillary venous malformations in the brain presenting with various neurological, ophthalmic, and cognitive symptoms of variable severity. This clinical variability makes accurate prognosis difficult. We hypothesized that the greater extent of physical factors (extent of skin, eye, and brain involvement), presence of possible genetic factors (gender and family history), and age of seizure onset may be associated with greater symptom severity and need for surgery in patients with SWS. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S08878994183069
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http://dx.doi.org/10.1016/j.pediatrneurol.2018.12.002DOI Listing
December 2018
1 Read

Proseal laryngeal mask airway with stylet in drain tube technique in a child with Sturge-Weber syndrome.

J Anaesthesiol Clin Pharmacol 2018 Oct-Dec;34(4):559-560

Department of Anaesthesia and Intensive Care, PGIMER, Chandigarh, India.

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http://dx.doi.org/10.4103/joacp.JOACP_351_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360887PMC
February 2019

Outcome after hemispherotomy in patients with intractable epilepsy: Comparison of techniques in the Italian experience.

Epilepsy Behav 2019 Feb 16;93:22-28. Epub 2019 Feb 16.

Department of Neuroscience and Neurorehabilitation, Bambino Gesù Children Hospital, Rome, Italy. Electronic address:

Objective: The objective of the study was to evaluate clinical characteristics and outcome of hemispherotomy in children and adolescents with hemispheric refractory epilepsy in an Italian cohort of patients.

Methods: We retrospectively evaluated the clinical course and outcome of 92 patients with refractory epilepsy who underwent hemispherotomy in three Italian epilepsy centers between 2006 and 2016. Three different approaches for hemispherotomy were used: parasagittal, modified parasagittal, and lateral. Read More

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http://dx.doi.org/10.1016/j.yebeh.2019.01.006DOI Listing
February 2019
1 Read

Molecular diagnosis of somatic overgrowth conditions: A single-center experience.

Mol Genet Genomic Med 2019 Mar 13;7(3):e536. Epub 2019 Feb 13.

Genetic Diagnostic Laboratory, Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania.

Background: Somatic overgrowth conditions, including Proteus syndrome, Sturge-Weber syndrome, and PIK3CA-related overgrowth spectrum, are caused by post-zygotic pathogenic variants, result in segmental mosaicism, and give rise to neural, cutaneous and/or lipomatous overgrowth. These variants occur in growth-promoting pathways leading to cellular proliferation and expansion of tissues that arise from the affected cellular lineage.

Methods: We report on 80 serial patients evaluated for somatic overgrowth conditions in a diagnostic laboratory setting, including three prenatal patients. Read More

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http://dx.doi.org/10.1002/mgg3.536DOI Listing
March 2019
1 Read

Asymmetric cavernous sinus enlargement: a novel finding in Sturge-Weber syndrome.

Neuroradiology 2019 Feb 12. Epub 2019 Feb 12.

Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16147, Genoa, Italy.

Purpose: Enlargement of deep cerebral veins and choroid plexus engorgement are frequently reported in Sturge-Weber syndrome. We aim to describe cavernous sinus involvement in patients with this syndrome and to identify possible clinical-neuroimaging correlations.

Methods: Sixty patients with Sturge-Weber syndrome (31 females, mean age 4. Read More

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http://link.springer.com/10.1007/s00234-019-02182-4
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http://dx.doi.org/10.1007/s00234-019-02182-4DOI Listing
February 2019
5 Reads

Episcleral hemangioma in Sturge Weber syndrome.

QJM 2019 Feb 2. Epub 2019 Feb 2.

Advanced Eye Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

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http://dx.doi.org/10.1093/qjmed/hcz035DOI Listing
February 2019
1 Read

Flunarizine for Headache Prophylaxis in Children With Sturge-Weber Syndrome.

Pediatr Neurol 2018 Nov 28. Epub 2018 Nov 28.

Neurosciences, Great Ormond Street Hospital NHS Foundation Trust, London, UK; Clinical Neurosciences, UCL- Institute of Child Health, London, UK.

Background: Children with Sturge-Weber syndrome can experience severe headache with or without transient hemiparesis. Flunarizine, a calcium antagonist, has been used for migraine. The experience with flunarizine for headache in a cohort of children at a national center for Sturge-Weber syndrome is reviewed, reporting its efficacy and adverse effect in this population. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.11.012DOI Listing
November 2018
2 Reads

Use of Targeted Next-Generation Sequencing to Identify Activating Hot Spot Mutations in Cherry Angiomas.

JAMA Dermatol 2019 Feb;155(2):211-215

Department of Dermatology, Massachusetts General Hospital, Boston.

Importance: Shared gene variants in benign-malignant process pairs, such as BRAF mutations common to benign nevi and melanoma, are associated with differing phenotypic manifestations. Study of gene mechanisms underlying cherry angioma may uncover previously unknown disease relationships.

Objective: To identify somatic mutations present in cherry angioma specimens by using targeted next-generation sequencing. Read More

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http://archderm.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamadermatol.2018.4231DOI Listing
February 2019
13 Reads

Sturge-Weber Syndrome Coexisting With Moyamoya Disease in the Fifth Decade: A Case Report and Literature Review.

Neurologist 2019 Jan;24(1):13-16

Department of Neurology, West China Hospital, Sichuan University, Guo Xue Xiang, Chengdu, China.

Sturge-Weber syndrome (SWS) is a sporadically occurring neurocutaneous syndrome characterized by port-wine stain over the face, ocular abnormalities (glaucoma and choroidal hemangioma), and leptomeningeal angiomas. It is usually diagnosed in infancy, but it may occasionally present in adulthood with seizures or stroke-like episodes. Here, we report a 46-year-old male patient, having SWS coexisting with moyamoya disease, attending our hospital due to sudden loss of consciousness. Read More

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http://dx.doi.org/10.1097/NRL.0000000000000207DOI Listing
January 2019
2 Reads

Partial thickness sclerectomy to treat exudative retinal detachment secondary a submacular choroidal hemangioma in a Sturge-Weber syndrome.

Int Ophthalmol 2019 Feb;39(2):491-495

S. Anna Clinical Institute, Via del Franzone, 31, 25127, Brescia, Italy.

Purpose: To demonstrate the safety and efficacy of partial thickness sclerectomies to treat exudative retinal detachment secondary to choroidal hemangioma, non-suitable with photodynamic therapy in a 5-year-old child with Sturge-Weber syndrome.

Methods: A 5 year-old child presented exudative retinal detachment secondary to choroidal subfoveal diffuse hemangioma. The child was non-compliant to undergo a photodynamic therapy. Read More

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http://link.springer.com/10.1007/s10792-018-1056-2
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http://dx.doi.org/10.1007/s10792-018-1056-2DOI Listing
February 2019
3 Reads

Glaucoma in children with facial port wine stain.

Eur J Ophthalmol 2018 Dec 19:1120672118819668. Epub 2018 Dec 19.

Ophthalmology Department, Faculty of Medicine, Alexandria University, Alexandria, Egypt.

Purpose:: To report on the clinical presentation and surgical treatment (procedure and outcome(s)) of glaucoma in children with facial port wine stain.

Materials And Methods:: This is a retrospective chart review of children with facial port wine stain referred to Alexandria University paediatric ophthalmology practice from 2005 to 2016. The charts of 22 children (44 eyes) with facial port wine stain were reviewed. Read More

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http://dx.doi.org/10.1177/1120672118819668DOI Listing
December 2018
5 Reads
1.058 Impact Factor

GNAQ Mutations in Diffuse and Solitary Choroidal Hemangiomas.

Ophthalmology 2018 Dec 8. Epub 2018 Dec 8.

Memorial Sloan-Kettering Cancer Center, New York, New York; Weill Cornell Medical Center, New York, New York.

Purpose: GNAQ mutations have been identified in port wine stains (both syndromic and nonsyndromic) and melanocytic ocular neoplasms. This study investigates the presence of GNAQ mutations in diffuse (those associated with Sturge-Weber syndrome [SWS]) and solitary choroidal hemangiomas.

Participants: Tissue from 11 patients with the following diagnoses: port wine stain (n = 3), diffuse choroidal hemangioma (n = 1), solitary choroidal hemangioma (n = 6), and choroidal nevus (n = 1). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01616420183258
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http://dx.doi.org/10.1016/j.ophtha.2018.12.011DOI Listing
December 2018
10 Reads

[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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http://dx.doi.org/10.1007/s00347-018-0828-4DOI Listing
November 2018
3 Reads

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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http://dx.doi.org/10.1097/RMR.0000000000000185DOI Listing
December 2018
8 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.

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

2Neurology.

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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http://dx.doi.org/10.3171/2018.8.PEDS18131DOI Listing
November 2018
7 Reads

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

Pediatr Neurol 2019 Jan 24;90:8-12. 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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http://dx.doi.org/10.1016/j.pediatrneurol.2018.04.009DOI Listing
January 2019
2 Reads

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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http://www.jaypeejournals.com/eJournals/ShowText.aspx?ID=147
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http://dx.doi.org/10.5005/jp-journals-10008-1251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236123PMC
August 2018
13 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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https://www.healio.com/doiresolver?doi=10.3928/01913913-2018
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http://dx.doi.org/10.3928/01913913-20180905-01DOI Listing
November 2018
9 Reads
0.731 Impact Factor

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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https://linkinghub.elsevier.com/retrieve/pii/S08878994183033
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http://dx.doi.org/10.1016/j.pediatrneurol.2018.08.006DOI Listing
December 2018
9 Reads

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

JAMA Ophthalmol 2019 Jan;137(1):91-95

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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https://jamanetwork.com/journals/jamaophthalmology/fullartic
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http://dx.doi.org/10.1001/jamaophthalmol.2018.5141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382586PMC
January 2019
8 Reads

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

Epilepsy Res 2018 12 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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https://linkinghub.elsevier.com/retrieve/pii/S09201211173063
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http://dx.doi.org/10.1016/j.eplepsyres.2018.09.001DOI Listing
December 2018
18 Reads

Pediatric Congenital Cerebrovascular Anomalies.

J Neuroimaging 2019 Mar 31;29(2):165-181. 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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http://doi.wiley.com/10.1111/jon.12575
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http://dx.doi.org/10.1111/jon.12575DOI Listing
March 2019
19 Reads

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

J Child Neurol 2019 Jan 31;34(1):17-21. Epub 2018 Oct 31.

2 Department of Neurology, Dell Medical School, Austin, TX.

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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http://journals.sagepub.com/doi/10.1177/0883073818801635
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http://dx.doi.org/10.1177/0883073818801635DOI Listing
January 2019
17 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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http://dx.doi.org/10.1093/qjmed/hcy246DOI Listing
October 2018
1 Read

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

Eye (Lond) 2019 Mar 18;33(3):464-468. 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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http://dx.doi.org/10.1038/s41433-018-0233-xDOI Listing
March 2019
2 Reads
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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http://journals.sagepub.com/doi/10.1177/1120672118804795
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http://dx.doi.org/10.1177/1120672118804795DOI Listing
October 2018
8 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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https://linkinghub.elsevier.com/retrieve/pii/S22146237183006
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http://dx.doi.org/10.1016/j.jcte.2018.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6171088PMC
December 2018
23 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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http://dx.doi.org/10.4103/jnrp.jnrp_11_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126282PMC
October 2018
1 Read

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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http://dx.doi.org/10.1016/j.sjopt.2017.07.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6137699PMC
August 2017
4 Reads

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

Epilepsy Behav 2018 11 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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https://linkinghub.elsevier.com/retrieve/pii/S15255050183038
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http://dx.doi.org/10.1016/j.yebeh.2018.08.006DOI Listing
November 2018
8 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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http://dx.doi.org/10.1126/scisignal.aao6852DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6279241PMC
September 2018
3 Reads

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

Neurosurg Focus 2018 Sep;45(3):E3

5Division 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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http://thejns.org/doi/10.3171/2018.7.FOCUS18220
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http://dx.doi.org/10.3171/2018.7.FOCUS18220DOI Listing
September 2018
10 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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6087527PMC
January 2018
14 Reads

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

Vasc Med 2019 Feb 16;24(1):72-75. 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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http://journals.sagepub.com/doi/10.1177/1358863X18786068
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http://dx.doi.org/10.1177/1358863X18786068DOI Listing
February 2019
5 Reads

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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http://dx.doi.org/10.1007/s00381-018-3934-3DOI Listing
December 2018
16 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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http://dx.doi.org/10.1080/10410236.2018.1504658DOI Listing
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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http://www.ajnr.org/lookup/doi/10.3174/ajnr.A5722
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http://dx.doi.org/10.3174/ajnr.A5722DOI Listing
August 2018
15 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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http://dx.doi.org/10.1111/pde.13598DOI Listing
September 2018
8 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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http://dx.doi.org/10.3340/jkns.2018.0089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6046564PMC
July 2018
5 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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http://dx.doi.org/10.1007/s00117-018-0413-5DOI Listing
July 2018
4 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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http://dx.doi.org/10.1016/j.pediatrneurol.2018.03.010DOI Listing

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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http://dx.doi.org/10.1016/j.pediatrneurol.2018.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6317878PMC
July 2018
27 Reads
1.504 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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http://Insights.ovid.com/crossref?an=00000637-900000000-9736
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http://dx.doi.org/10.1097/SAP.0000000000001484DOI Listing
August 2018
10 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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http://dx.doi.org/10.1136/bcr-2017-223983DOI Listing
May 2018
5 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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http://dx.doi.org/10.1016/j.pediatrneurol.2018.04.004DOI Listing
July 2018
5 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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http://dx.doi.org/10.1212/NXG.0000000000000236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931068PMC
June 2018
10 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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http://dx.doi.org/10.1002/acn3.546DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5899918PMC
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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http://dx.doi.org/10.1016/j.eplepsyres.2018.03.020DOI Listing
July 2018
6 Reads