1,671 results match your criteria Sturge-Weber Syndrome


Klippel-Trenaunay and Sturge-Weber Overlap Syndrome with KRAS and GNAQ mutations.

Ann Clin Transl Neurol 2020 Jul 2. Epub 2020 Jul 2.

Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, No.58 Zhongshan Road 2, Guangzhou, 510080, China.

Patients with combined phenotypes of Sturge-Weber syndrome and Klippel-Trenaunay syndrome have been reported, though the underlying genetic spectrum in these individuals remains to be elucidated. We reported the patient presenting with Klippel-Trenaunay and Sturge-Weber overlap syndrome in mainland China. Histopathologic study confirmed the hemangioma of vein and capillary. Read More

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http://dx.doi.org/10.1002/acn3.51106DOI Listing

Successful Reduction of Intraocular Pressure in a Patient with Glaucoma Secondary to Sturge-Weber Syndrome Using a Suprachoroidal Shunt.

J Curr Glaucoma Pract 2020 Jan-Apr;14(1):43-46

Vance Thompson Vision, Fargo, North Dakota, USA.

Aim: We present a case of successful reduction of intraocular pressure (IOP) in a patient with Sturge-Weber syndrome (SWS) and moderate open angle glaucoma using a suprachoroidal shunt.

Background: Patients with SWS glaucoma often have elevated episcleral venous pressure resulting in elevated IOP. This makes the conventional pathway for aqueous humor outflow a poor target for IOP reduction, yielding it difficult to treat. Read More

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http://dx.doi.org/10.5005/jp-journals-10078-1266DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7302605PMC

Isolated Diffuse Choroidal Hemangioma: A Variant of Sturge-Weber Syndrome?

J Pediatr Ophthalmol Strabismus 2020 Jun 23;57:e43-e47. Epub 2020 Jun 23.

The authors report a case of a diffuse choroidal hemangioma in the left eye of a 17-year-old girl. No evidence of leptomeningeal angiomatosis was found on magnetic resonance imaging and neither the medical history nor the clinical examination revealed a port wine birthmark on the left side of the face. Fine telangiectatic vessels were found on the bulbar conjunctiva of the ipsilateral eye. Read More

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http://dx.doi.org/10.3928/01913913-20200512-01DOI Listing

Sturge-Weber syndrome: an update on the relevant issues for neurosurgeons.

Childs Nerv Syst 2020 Jun 21. Epub 2020 Jun 21.

Neurochirurgia Infantile, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Purpose: Sturge-Weber syndrome (SWS) is a neurocutaneous facomatosis characterized by facial and leptomeningeal angioma, glaucoma, seizures, and neurological disability. Therefore, a challenging multidisciplinary interaction is required for its management. The goal of this paper is to review the main aspects of SWS and to present an illustrative pediatric series. Read More

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http://dx.doi.org/10.1007/s00381-020-04695-3DOI Listing

Headache in children with Sturge-Weber syndrome - Prevalence, associations and impact.

Eur J Paediatr Neurol 2020 May 28. Epub 2020 May 28.

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

Background: Sturge-Weber syndrome (SWS) is a congenital neurovascular disorder characterised by capillary-venous malformations involving the skin, brain and eye. Patients experience headache, however little is known about its characteristics or associations. We aimed to estimate prevalence, associations and the impact of headache in children with SWS. Read More

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http://dx.doi.org/10.1016/j.ejpn.2020.05.001DOI Listing
May 2020
1.934 Impact Factor

Combined Viscodilation of Schlemm's Canal and Collector Channels and 360° Ab-Interno Trabeculotomy for Congenital Glaucoma Associated with Sturge-Weber Syndrome.

Int Med Case Rep J 2020 21;13:217-220. Epub 2020 May 21.

Maggiore Hospital, Bologna 40133, Italy.

Purpose: This case report demonstrates the potential role of the OMNI surgical system in the surgical management of congenital glaucoma.

Patients And Methods: The case was a 4-month-old full-term, otherwise healthy female infant with cutaneous hemangiomas of both upper lids, corneal edema in the right eye (RE) and IOP > 30 mmHg. Sturge-Weber syndrome (SWS) was diagnosed. Read More

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http://dx.doi.org/10.2147/IMCRJ.S252725DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7247731PMC

Epilepsy surgery in children: what the radiologist needs to know.

Neuroradiology 2020 May 20. Epub 2020 May 20.

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

This review updates the radiologist on current epilepsy surgery practice in children, with a specific focus on the role of imaging in pre-surgical work-up, current and novel surgical techniques, expected post-surgical imaging appearances and important post-operative complications. A comprehensive review of the current and emerging international practices in paediatric epilepsy surgical planning and post-operative imaging is provided with details on case-based radiological findings. A detailed discussion of the pathophysiology and imaging features of different epileptogenic lesions will not be discussed as this is not the objective of this paper. Read More

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http://dx.doi.org/10.1007/s00234-020-02448-2DOI Listing

Posterior quadrant disconnection for sub-hemispheric drug refractory epilepsy.

Neurol India 2020 Mar-Apr;68(2):270-273

Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India.

The posterior quadratic epilepsy (PQE) is a form of a multilobar epilepsy, involving the temporal-parietal and occipital lobes. Basically, epilepsies with localized networks to the posterior temporal, posterior parietal, and occipital lobes can benefit from this type of surgery. Gliosis due to perinatal insult and cortical dysplasis and angiomas in Sturge Weber syndrome involving the PQ have often been cited in the literature as the etiology for PQE. Read More

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http://dx.doi.org/10.4103/0028-3886.284358DOI Listing

Forehead location and large segmental pattern of facial port-wine stains predict risk of Sturge-Weber Syndrome.

J Am Acad Dermatol 2020 May 12. Epub 2020 May 12.

Division of Neurology, University of Washington School of Medicine and Seattle Children's Hospital; Seattle, WA.

Background: Children with forehead port-wine stains (PWS) are at risk of Sturge-Weber Syndrome (SWS). However, most will not develop neurologic manifestations.

Objective: To identify children at greatest risk of SWS. Read More

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http://dx.doi.org/10.1016/j.jaad.2020.05.017DOI Listing

Utility of the transcranial doppler in the evaluation and follow-up of children with Sturge-Weber Syndrome.

Eur J Paediatr Neurol 2020 Apr 19. Epub 2020 Apr 19.

Department of Neuropediatrics, Hospital Infantil Universitario Niño Jesús, Madrid, Spain; Member of the Clinical Group Linked (GCV6) to the Networked Biomedical Research Centre for Rare Diseases (CIBERER), Carlos III Health Institute, Madrid, Spain.

Introduction: Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome with typical clinical features including seizures, chronic hemiplegia, hemianopsia and intellectual impairment. Progressive clinical decline may be attributable, at least in part, to progressive venous ischemia. Transcranial Doppler (TCD) ultrasonography could be useful to monitor the degree of hemodynamic involvement and its progression. Read More

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http://dx.doi.org/10.1016/j.ejpn.2020.04.006DOI Listing
April 2020
1.934 Impact Factor

OPTICAL COHERENCE TOMOGRAPHY AND OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY PARAMETERS IN PATIENTS WITH PHACOMATOSIS.

Retina 2020 Apr 29. Epub 2020 Apr 29.

Department of Ophthalmology, Centro Hospitalar e Universitário do Porto, Porto, Portugal.

Purpose: To compare the retinal vasculature characteristics between eyes of patients with and without phacomatosis.

Methods: Case-control observational study with retinal vasculature evaluation by optical coherence tomography and optical coherence tomography angiography of the macula and disk.

Results: The study included 80 eyes. Read More

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http://dx.doi.org/10.1097/IAE.0000000000002840DOI Listing
April 2020
3.243 Impact Factor

Optical Coherence Tomography Angiography of Perilimbal Vasculature in Port-Wine Stain and Sturge-Weber Syndrome Patients.

Invest Ophthalmol Vis Sci 2020 Apr;61(4):43

,.

Purpose: To evaluate episcleral vasculature in corneal limbus with optical coherence tomography angiography (OCTA) in normal controls, port-wine stain (PWS) patients, and Sturge-Weber syndrome (SWS) patients.

Methods: Unilateral eyes from 18 normal controls (25.41 ± 4. Read More

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http://dx.doi.org/10.1167/iovs.61.4.43DOI Listing
April 2020
3.404 Impact Factor

A case report of a pregnant woman with Sturge-Weber syndrome.

J Int Med Res 2020 Apr;48(4):300060520913708

Department of Neurology, Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan Province, China.

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http://dx.doi.org/10.1177/0300060520913708DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7175062PMC
April 2020
1.095 Impact Factor

Ruthenium-106 plaque brachytherapy for the treatment of diffuse choroidal hemangioma in Sturge-Weber syndrome.

Int J Ophthalmol 2020 18;13(3):513-517. Epub 2020 Mar 18.

Department of Ophthalmology & Clinical Center of Optometry, Peking University People's Hospital, Beijing 100044, China.

Aim: To evaluate the efficacy of ruthenium-106 plaque brachytherapy for the treatment of diffuse choroidal hemangioma (DCH) in Sturge-Weber syndrome (SWS).

Methods: A total of 8 patients with DCH in SWS managed with plaque brachytherapy were retrospectively included. Patients were treated with ruthenium-106 plaque therapy (median apex dose: 83 Gy) at the thickest tumor region. Read More

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http://dx.doi.org/10.18240/ijo.2020.03.22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7154199PMC

Risk factors and results of hemispherotomy reoperations in children.

Neurosurg Focus 2020 04;48(4):E5

1Division of Pediatric Neurosurgery, Ribeirao Preto Medical School; and.

Objective: The goal of this study was to perform an analysis of a single-center experience with hemispherotomy reoperations for refractory hemispheric pediatric epilepsy due to persistence of seizures after initial surgery. The authors also identify possible anatomical and neurophysiological reasons for hemispherotomy failure, as well as risk factors and surgical options for this subgroup of patients.

Methods: A review was performed of the medical records in 18 consecutive cases in which candidates for redo hemispherotomy were treated between 2003 and 2018 at the authors' epilepsy surgery center. Read More

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http://dx.doi.org/10.3171/2020.1.FOCUS19944DOI Listing

Incidence of Sturge-Weber syndrome and associated ocular involvement in Olmsted County, Minnesota, United States.

Ophthalmic Genet 2020 Apr 31;41(2):108-124. Epub 2020 Mar 31.

Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.

: Sturge-Weber syndrome (SWS) is a rare sporadic syndrome characterized by nevus flammeus (port-wine stain, PWS) in the trigeminal nerve distribution, diffuse choroidal hemangioma, and brain leptomeningeal hemangioma. We are unaware of previous reports of SWS incidence in the United States. This study investigated SWS incidence and associated ocular involvement in Olmsted County, Minnesota. Read More

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http://dx.doi.org/10.1080/13816810.2020.1731834DOI Listing

The role of adenosine A1 receptor agonist in adenosine augmentation therapy for patients with refractory epilepsy in Sturge-Weber syndrome: An in vitro electrophysiological study.

Epilepsy Behav 2020 May 21;106:107034. Epub 2020 Mar 21.

Department of Neurosurgery, Sanbo Brain Hospital Capital Medical University, Beijing, China; Brain Research Institute, Sanbo Brain Hospital Capital Medical University, Beijing, China; Beijing Key Laboratory of Epilepsy, Beijing, China. Electronic address:

Purposes: This study was to further explore the adenosine dysfunction in refractory epilepsy in Sturge-Weber Syndrome (SWS), to evaluate the neuronal-level effect of the A1 receptor (A1R) agonist on both excitatory pyramidal neurons and inhibitory interneurons, to discuss the possibility of adenosine augmentation therapy (AAT) using A1R agonist for treating refractory epilepsy in SWS.

Materials And Methods: The intrinsic excitatory properties of pyramidal cells (PCs) and fast-spiking (FS) interneurons from human brain tissues with SWS cases and malformations of cortical development (MCD) cases were compared using electrophysiology. With application of either A1R agonist or antagonist, the neuronal-level effect of A1R agonist was evaluated in vitro in PCs and FS interneurons from SWS cases and MCD cases. Read More

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http://dx.doi.org/10.1016/j.yebeh.2020.107034DOI Listing

Characteristic Cytokine Profiles of Aqueous Humor in Glaucoma Secondary to Sturge-Weber Syndrome.

Front Immunol 2020 28;11. Epub 2020 Jan 28.

Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Patients with Sturge-Weber syndrome (SWS) are susceptible to ocular complications, and among them, glaucoma is one of the most frequent forms. In current study, we utilized multiplex human cytokine antibody array to simultaneously measure the concentration of 40 cytokines in aqueous humor (AH) of patients with SWS-induced glaucoma (SG), or from patients with senile cataract as controls. Compared with the control group, levels of interleukin (IL)-12p40, macrophage inflammatory protein (MIP)-1d, tumor necrosis factor-alpha (TNF-a), IL-5, IL-7, interleukin-6 receptor (IL-6R), and B lymphocyte chemoattractant (BLC) in AH were significantly higher in SG group. Read More

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http://dx.doi.org/10.3389/fimmu.2020.00004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7008723PMC
January 2020

Toward a better understanding of stroke-like episodes in Sturge-Weber syndrome.

Authors:
Csaba Juhász

Eur J Paediatr Neurol 2020 Mar 14;25. Epub 2020 Feb 14.

Departments of Pediatrics, Neurology, Neurosurgery, Wayne State University School of Medicine, Translational Imaging Laboratory, Children's Hospital of Michigan, Detroit, MI, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2020.02.005DOI Listing

Congenital Triangular Alopecia Associated with Phakomatosis Pigmentovascularis Type II along with Klippel Trenaunay Syndrome.

Indian Dermatol Online J 2020 Jan-Feb;11(1):91-93. Epub 2019 Sep 26.

Department of Dermatology, PGIMER Dr Ram Manohar Lohia Hospital, New Delhi, India.

Phakomatosis pigmentovascularis (PPV) is characterized by the association of a vascular nevus with a pigmentary nevus and is divided into five subtypes. PPV type II or Happle's phakomatosis cesioflammea is the most common subtype comprising of nevus flammeus along with pigmentary nevus in the form of aberrant Mongolian spots, nevus of Ota or less frequently nevus of Ito. It is estimated that around 50% of patients with PPV have systemic involvement, most frequently involving the central nervous system and eye. Read More

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http://dx.doi.org/10.4103/idoj.IDOJ_112_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7001386PMC
September 2019

Multifocal circumscribed choroidal hemangioma: a rare occurrence.

BMJ Case Rep 2020 Feb 5;13(2). Epub 2020 Feb 5.

Ocular Oncology Service, Operation Eyesight Universal Institute for Eye Cancer, LV Prasad Eye Institute, Hyderabad, India.

A 32-year-old Asian-Indian woman presented with painless diminution of vision in her left eye (oculus sinister (OS)) and fundus examination OS revealed a large dome-shaped orangish-red subretinal lesion at the macula along with a smaller lesion on the superotemporal arcade. Indocyanine green angiography and optical coherence tomography features confirmed the diagnosis of multifocal circumscribed choroidal hemangioma (CCH). There was no evidence of Sturge-Weber syndrome. Read More

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http://dx.doi.org/10.1136/bcr-2019-233222DOI Listing
February 2020

[Diffuse choroidal hemangioma as a manifestation of Sturge-Weber syndrome (a clinical case study)].

Vestn Oftalmol 2019 ;135(6):108-116

Research Institute of Eye Diseases, 11A Rossolimo St., Moscow, Russian Federation, 119021.

Encephalotrigeminal angiomatosis (Sturge-Weber syndrome) is a congenital sporadic disease characterized by angiomatosis of meningeal vessels, facial and eye capillaries. The article presents a clinical case of comorbidity between monolateral skin angioma, ipsilateral conjunctival and choroidal angiomas without intraocular pressure elevation. The case is unusual due to asynchronous manifestation of the clinical signs of Sturge-Weber syndrome. Read More

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http://dx.doi.org/10.17116/oftalma2019135061108DOI Listing
February 2020

Episcleral hemangioma distribution patterns could be an indicator of trabeculotomy prognosis in young SWS patients.

Acta Ophthalmol 2020 Jan 30. Epub 2020 Jan 30.

Department of Ophthalmology, Ninth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Purpose: To explore the relationships between episcleral hemangioma distribution patterns and trabeculotomy prognosis in young Sturge-Weber syndrome (SWS) patients.

Methods: Sturge-Weber syndrome-induced glaucoma patients less than 4 years of age who underwent trabeculotomy in our Ophthalmology Department from February 2016 to June 2017 were included. Every patient could be divided into simple episcleral vascular abnormal network (SEVAN) or multiple episcleral vascular abnormal network (MEVAN) groups according to their episcleral hemangioma patterns. Read More

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http://dx.doi.org/10.1111/aos.14363DOI Listing
January 2020
2.844 Impact Factor

Intracranial variant of encephalotrigeminal angiomatosis - A case report.

Indian J Dent Res 2019 Nov-Dec;30(6):978-981

Department of Oral Medicine and Radiology, Vinayaka Missions Research Foundation, Vinayaka Missions Sankarachariyar Dental College (Deemed to be University), Salem, Tamil Nadu, India.

Encephalotrigeminal Angiomatosis is a rare developmental phakomatoses characterized by the occurrence of nevus flammeus (port-wine stain) along the distribution of branches of trigeminal nerve, vascular angiomas in the eye, and leptomeningeal angiomas affecting 1 in 1,00,000 South Asian population. Herewith, such a rare case of such encephalotrigeminal angiomatosis in a 24-year-old male is described. Read More

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http://dx.doi.org/10.4103/ijdr.IJDR_517_17DOI Listing
January 2020

Cerebrofacial venous metameric syndrome-spectrum of imaging findings.

Neuroradiology 2020 Apr 14;62(4):417-425. Epub 2020 Jan 14.

Division of Neuroradiology, Joint Department of Medical Imaging, Toronto Western Hospital, UHN, University of Toronto, Toronto, Ontario, Canada.

Cerebrofacial venous metameric syndrome (CVMS) is a complex craniofacial vascular malformation disorder in which patients have a constellation of venous vascular malformations affecting soft tissues, bone, dura, and neural structures including the eye and brain. It is hypothesized that a somatic mutation responsible for the venous abnormalities occurred prior to migration of the neural crest cells, and because of this, facial, osseous, and cerebral involvement typically follows a segmental or "metameric" distribution. The most commonly recognized form of CVMS is Sturge-Weber syndrome. Read More

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http://dx.doi.org/10.1007/s00234-020-02362-7DOI Listing

Atypical Intracerebral Developmental Venous Anomalies in Sturge-Weber Syndrome: A Case Series and Review of Literature.

Pediatr Neurol 2020 03 12;104:54-61. Epub 2019 Aug 12.

Division of Neuroradiology, Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, Maryland. Electronic address:

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. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.08.002DOI Listing

Effect of changing the analyzed image contrast on the accuracy of intracranial volume extraction using Brain Extraction Tool 2.

Radiol Phys Technol 2020 Mar 2;13(1):76-82. Epub 2020 Jan 2.

Department of Radiological Technology, Faculty of Health Science, Juntendo University, 2-1-1 hongo, bunkyo-ku, Tokyo, 113-8421, Japan.

The aim of this study was to evaluate the effect of changing the contrast of an analyzed image on the accuracy of intracranial volume (ICV) extraction using the Brain Extraction Tool (BET2) in healthy adults and patients with Sturge-Weber syndrome (SWS), including infants. Twelve SWS patients, including infants, and 12 healthy participants were imaged on a 3.0-T magnetic resonance imaging (MRI) machine. Read More

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http://dx.doi.org/10.1007/s12194-019-00551-5DOI Listing

Postpartum psychosis in Sturge-Weber syndrome: A case report.

Indian J Psychiatry 2019 Nov-Dec;61(6):649-650

Department of Psychiatry, Mahatma Gandhi Institute of Medical Sciences, Wardha, Maharashtra, India. E-mail:

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http://dx.doi.org/10.4103/psychiatry.IndianJPsychiatry_560_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6862998PMC
January 2020

Transient episodes of hemiparesis in Sturge Weber Syndrome - Causes, incidence and recovery.

Eur J Paediatr Neurol 2020 Mar 23;25:90-96. Epub 2019 Nov 23.

Great Ormond Street Hospital, Great Ormond Street, London, United Kingdom; UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

Introduction: Sturge Weber Syndrome (SWS) arises from a sporadic condition secondary to a post zygotic mutation in the GNAQ gene, manifested in the majority of cases by capillary malformation of the skin. Children present with seizures, acquired hemiparesis, transient hemiparesis and intellectual disabilities. This project aimed to establish incidence of transient episodes, their recovery time if full recovery was achieved, and events associated with the transient episode. Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.11.001DOI Listing

Transient water-electrolyte disturbance after hemispherotomy in young infants with epileptic encephalopathy.

Childs Nerv Syst 2020 May 16;36(5):1043-1048. Epub 2019 Dec 16.

Department of Neurosurgery, National Center of Neurology and Psychiatry, Tokyo, Japan.

Purpose: This study aimed to elucidate the clinical features of water-electrolyte disturbance (WED) as a sequela of hemispherotomy.

Methods: We performed a retrospective chart review to identify the clinical features of diabetes insipidus (DI) as a complication in < 12-month-old patients who underwent hemispherectomy or hemispherotomy for severe epilepsy between 2007 and 2018. Central DI was diagnosed if a patient developed polyuria (urine output > 5 mL/kg/h), abnormally high serum osmolality (> 300 mOsm/kg), high serum sodium level (> 150 mEq/L), either abnormally low urine specific gravity (< 1. Read More

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http://dx.doi.org/10.1007/s00381-019-04452-1DOI Listing

GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of G Mosaicism and the Associated Clinical Diagnoses.

J Invest Dermatol 2020 May 12;140(5):1110-1113. Epub 2019 Dec 12.

Great Ormond St Hospital for Children NHS Foundation Trust, and UCL GOS Institute of Child Health, London, United Kingdom; Mosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2019.10.019DOI Listing

Ethanol combined with coil embolisation for the treatment of arteriovenous malformations in a patient with Parkes Weber syndrome.

Ann R Coll Surg Engl 2020 Mar 22;102(3):e54-e56. Epub 2019 Nov 22.

Department of Dermatology and Venereology, West China Hospital, Sichuan University, Chengdu, PR China.

Parkes Weber syndrome is a rare congenital condition of the vascular system with severe symptoms and life-threatening complications. The challenge is to manage the arteriovenous malformations, and there is no consensus on optimal treatment. We report the case of an 18-year-old woman with Parkes Weber syndrome who was treated with ethanol combined with coil embolisation at an early stage. Read More

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http://dx.doi.org/10.1308/rcsann.2019.0146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7027421PMC

Choroidal detachment with exudative retinal detachment following Ahmed valve implantation in Sturge-Weber syndrome.

GMS Ophthalmol Cases 2019 25;9:Doc33. Epub 2019 Oct 25.

Cornea, Ispahani Islamia Eye Institute and Hospital, Dhaka, Bangladesh.

Ahmed glaucoma valve implant appears to be a relatively useful drainage device in eyes with glaucoma secondary to Sturge-Weber syndrome (SWS). However, early postoperative choroidal and exudative retinal detachment may occur from a rapid expansion of the choroidal hemangioma with effusion of fluid into the suprachoroidal and subretinal spaces. We report the case of a ten-year-old boy who had SWS with choroidal haemangioma and secondary glaucoma. Read More

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http://dx.doi.org/10.3205/oc000122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6839027PMC
October 2019

Sturge-Weber Syndrome Patient Registry: Delayed Diagnosis and Poor Seizure Control.

J Pediatr 2019 12 3;215:158-163.e6. Epub 2019 Oct 3.

Department of Neurology, Kennedy Krieger Institute, Baltimore, MD; Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, MD; The Sturge-Weber Foundation, Houston, TX. Electronic address:

Objective: To examine the symptomatology and treatment of Sturge-Weber syndrome (SWS) from a large patient registry to identify common symptoms, clinical outcomes, and areas of unmet clinical need.

Study Design: An online patient questionnaire was completed by 628 patients with clinically diagnosed SWS and/or a port-wine birthmark over a 19-year period. Statistical analysis focused on seizures as a primary outcome measure, as well as associated neurologic, ophthalmologic, and dermatologic attributes to understand some of the natural history of the disorder. Read More

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http://dx.doi.org/10.1016/j.jpeds.2019.08.025DOI Listing
December 2019
2 Reads

A rare case of phakomatosis pigmentovascularis type IIb associated with inverse Klippel-Trenaunay syndrome and Sturge-Weber syndrome.

Indian J Dermatol Venereol Leprol 2019 Nov-Dec;85(6):618-620

Department of Dermatovenereology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.

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http://dx.doi.org/10.4103/ijdvl.IJDVL_55_19DOI Listing

Maternal smoking during pregnancy and risk of phacomatoses: results from a Swedish register-based study.

Clin Epidemiol 2019 3;11:793-800. Epub 2019 Sep 3.

Institute of Environmental Medicine, Unit of Epidemiology, Karolinska Institutet, Stockholm, Sweden.

Background And Aim: Phacomatoses are genetic syndromes often associated with an increased risk of a variety of malignant and benign neoplasms, including nervous system tumors. Little is known about the causes of de novo occurrences of phacomatoses. Therefore, the aim of this study was to assess the association between maternal smoking during pregnancy and the occurrence of de novo phacomatoses. Read More

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http://dx.doi.org/10.2147/CLEP.S216634DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732901PMC
September 2019
2 Reads

Phenotypic association of presence of a somatic GNAQ mutation with port-wine stain distribution in capillary malformation.

Head Neck 2019 12 18;41(12):4143-4150. Epub 2019 Sep 18.

Department of Plastic Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

Background: A somatic mutation of GNAQ (c.548G>A, p.Arg183Gln) plays a key role in capillary malformation development. Read More

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http://dx.doi.org/10.1002/hed.25962DOI Listing
December 2019
2 Reads

Quality of Life in Children With Sturge-Weber Syndrome.

Pediatr Neurol 2019 12 24;101:26-32. Epub 2019 Apr 24.

Department of Neurology, Kennedy Krieger 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:

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. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288751PMC
December 2019
1 Read

Choroidal Vascular Pattern in Cases of Sturge-Weber Syndrome.

Ophthalmol Retina 2019 12 22;3(12):1091-1097. Epub 2019 Jul 22.

Vitreo-retina, Trauma and Uvea Services, Dr. Rajendra Prasad Center for Ophthalmic Sciences, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.

Purpose: To study the choroidal vascular pattern in patients with Sturge-Weber syndrome (SWS) using swept-source OCT (SS-OCT).

Design: Prospective comparative observational study.

Participants: All patients with SWS with no history of prior treatment for posterior segment pathology were included. Read More

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http://dx.doi.org/10.1016/j.oret.2019.07.009DOI Listing
December 2019
8 Reads

Gamma Knife Radiosurgery for Choroidal Hemangioma: A Single-Institute Series.

World Neurosurg 2020 Jan 30;133:e129-e134. Epub 2019 Aug 30.

Department of Neurosurgery, Brain Research Institute, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea. Electronic address:

Objective: Choroidal hemangioma (CH) is a benign vascular tumor that induces subretinal fluid collection or exudative retinal detachment and consequent visual symptoms. Current standard treatments for CH include cryotherapy, diathermy, photocoagulation, photodynamic therapy, transpupillary thermotherapy, and radiation therapy. Stereotactic radiosurgery has recently been applied to the treatment of CH because of its characteristic stiff dose-fall-off and accuracy. Read More

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http://dx.doi.org/10.1016/j.wneu.2019.08.138DOI Listing
January 2020
2 Reads
2.417 Impact Factor

Optical Coherence Tomography of Choroid in Common Neurological Diseases.

In Vivo 2019 Sep-Oct;33(5):1403-1409

Ophthalmology Unit, NESMOS Department, St. Andrea Hospital, Sapienza University of Rome, Rome, Italy.

The choroid is involved directly and indirectly in many pathological conditions such as age-related macular degeneration, myopia-related chorioretinal atrophy and central serous chorioretinopathy. Optical coherence tomography (OCT) has gradually become a fundamental part of modern resources in the hands of ophthalmologists. The enhanced depth imaging technique and swept-source OCT make a great contribution to conventional in vivo choroid assessment. Read More

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http://dx.doi.org/10.21873/invivo.11617DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6754995PMC
January 2020
3 Reads

An unusual spiculated presentation of follicular porokeratosis.

Dermatol Online J 2019 Jul 15;25(7). Epub 2019 Jul 15.

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

Follicular porokeratosis is a rare variant of porokeratosis in which the coronoid lamellae are confined to hair follicles. It classically presents with annular plaques with a surrounding keratotic ridge. However, the clinical presentation has shown significant variation in reported cases. Read More

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July 2019
7 Reads

[Sturge-Weber-Krabbe Syndrome: an uncommon disorder (about a case)].

Pan Afr Med J 2018 28;31:211. Epub 2018 Nov 28.

Service de Radiologie, CHU Hassan II-Fès, Rabat, Maroc.

We report a case of Sturge-Weber-Krabbe Syndrome diagnosed in the Department of Radiology at the Hassan II University Hospital in Fes. This study highlights the clinical diagnostic and therapeutic features as well as the evolutionary characteristics of this uncommon neuroradiologic disorder. Read More

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http://dx.doi.org/10.11604/pamj.2018.31.211.14606DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6691304PMC
September 2019
2 Reads

Unilateral Allergic Dermatitis to Timolol in Eye Drops for Treating Glaucoma in a Patient With Sturge-Weber Syndrome and a Choroidal Hemangioma.

Dermatitis 2019 Nov/Dec;30(6):373-374

From the Dermatology Department, Royal Free NHS Foundation Trust, London, United Kingdom.

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http://dx.doi.org/10.1097/DER.0000000000000494DOI Listing
May 2020
3 Reads

Bilateral diffuse choroidal hemangioma in Sturge Weber syndrome: A case report highlighting the role of multimodal imaging and a brief review of the literature.

J Curr Ophthalmol 2019 Jun 7;31(2):242-249. Epub 2018 Nov 7.

Ophthalmology Unit, NESMOS Department, Sapienza University of Rome, St. Andrea Hospital, Rome, Italy.

Purpose: To present a patient with bilateral choroidal hemangioma in Sturge-Weber syndrome (SWS) and highlight multimodal imaging techniques for early detection and management of ocular alterations.

Methods: A 37-year-old woman with diagnosis of SWS presented to our unit. The patient had been treated with pulsed dye laser for bilateral nevus flammeus and had right leptomeningeal angiomatosis. Read More

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http://dx.doi.org/10.1016/j.joco.2018.10.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612038PMC
June 2019
4 Reads

Ocular manifestations of Sturge-Weber syndrome.

Curr Opin Ophthalmol 2019 Sep;30(5):301-305

Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA.

Purpose Of Review: Sturge-Weber syndrome (SWS) is a rare, congenital disease which frequently involves the eye. It is important that ophthalmologists recognize this syndrome and are aware of its range of ocular manifestations. The aim of this article is to present our understanding of the pathogenesis and clinical manifestations of this syndrome and provide updated information on the treatment of SWS glaucoma and choroidal hemangioma. Read More

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http://dx.doi.org/10.1097/ICU.0000000000000597DOI Listing
September 2019
5 Reads

Aberrant myelination in patients with Sturge-Weber syndrome analyzed using synthetic quantitative magnetic resonance imaging.

Neuroradiology 2019 Sep 6;61(9):1055-1066. Epub 2019 Jul 6.

Department of Radiology, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan.

Purpose: Accelerated myelination in the affected hemisphere has been demonstrated previously in patients with Sturge-Weber syndrome (SWS). This prospective study investigated myelin-related changes in patients with unilateral SWS using synthetic quantitative magnetic resonance imaging (qMRI).

Methods: Fourteen children with unilateral SWS were categorized according to age, i. Read More

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http://dx.doi.org/10.1007/s00234-019-02250-9DOI Listing
September 2019
7 Reads

Neurological Complications of Sturge-Weber Syndrome: Current Status and Unmet Needs.

Pediatr Neurol 2019 09 6;98:31-38. Epub 2019 Jun 6.

Department of Neurology, Harvard Medical School, Children's Hospital Boston, Boston, Massachusetts. Electronic address:

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. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.05.013DOI Listing
September 2019
6 Reads