Another strong argument for the early, aggressive management of seizures to optimize neuro-cognitive outcome in Sturge-Weber syndrome
Eur J Paediatr Neurol. 2021 Sep 3:S1090-3798(21)00157-4. doi: 10.1016/j.ejpn.2021.09.001. Online ahead of print.NO ABSTRACTPMID:34531152 | DOI:10.1016/j.ejpn.2021.09.001 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - September 17, 2021 Category: Neurology Authors: Csaba Juh ász Source Type: research

Sturge Weber Syndrome with Pituitary Macroadenoma in an Adult: An Unusual Association
Tariq A Gojwari, Omair Ashraf Shah, Arshad Hussain, Ajaz Mohiuddin, G Hassan, Mohammad Masood, Imran HamidNeurology India 2021 69(4):1135-1136 (Source: Neurology India)
Source: Neurology India - September 2, 2021 Category: Neurology Authors: Tariq A Gojwari Omair Ashraf Shah Arshad Hussain Ajaz Mohiuddin G Hassan Mohammad Masood Imran Hamid Source Type: research

Sturge Weber Syndrome with Pituitary Macroadenoma in an Adult: An Unusual Association
Tariq A Gojwari, Omair Ashraf Shah, Arshad Hussain, Ajaz Mohiuddin, G Hassan, Mohammad Masood, Imran HamidNeurology India 2021 69(4):1138-1139 (Source: Neurology India)
Source: Neurology India - September 2, 2021 Category: Neurology Authors: Tariq A Gojwari Omair Ashraf Shah Arshad Hussain Ajaz Mohiuddin G Hassan Mohammad Masood Imran Hamid Source Type: research

Quantitative EEG improves prediction of Sturge-Weber syndrome in infants with port-wine birthmark
CONCLUSION: qEEG adds information to risk prediction in infants with facial PWB.SIGNIFICANCE: qEEG can be used to help determine whether to obtain an MRI in the first year of life. The data collected can assist in developing a predictive model risk calculator that incorporates both PWB extent and qEEG results, which can be validated and then employed in the community.PMID:34454271 | DOI:10.1016/j.clinph.2021.06.030 (Source: Clinical Neurophysiology)
Source: Clinical Neurophysiology - August 28, 2021 Category: Neurology Authors: Ryan E Gill Bohao Tang Lindsay Smegal Jack H Adamek Danielle McAuliffe Balaji M Lakshmanan Siddharth Srivastava Angela M Quain Alison J Sebold Doris D M Lin Eric H Kossoff Brian Caffo Anne M Comi Joshua B Ewen Source Type: research

Ocular Manifestations of the Sturge-Weber Syndrome
J Ophthalmic Vis Res. 2021 Jul 29;16(3):415-431. doi: 10.18502/jovr.v16i3.9438. eCollection 2021 Jul-Sep.ABSTRACTSturge-Weber syndrome (SWS) or encephalotrigeminal angiomatosis is a non-inherited congenital disorder characterized by neurologic, skin, and ocular abnormalities. A somatic activating mutation (R183Q) in the GNAQ gene during early embryogenesis has been recently recognized as the etiology of vascular abnormalities in SWS. Approximately, half of the patients with SWS manifest ocular involvement including glaucoma as the most common ocular abnormality followed by choroidal hemangioma (CH). The underlying pathophy...
Source: Journal of Ophthalmic and Vision Research - August 16, 2021 Category: Opthalmology Authors: Kiana Hassanpour Ramin Nourinia Ebrahim Gerami Ghavam Mahmoudi Hamed Esfandiari Source Type: research

Outcomes and associations in children with Sturge-Weber syndrome and glaucoma
Sturge-Weber syndrome (SWS) is a rare, neurocutaneous syndrome associated with port-wine stains of the face, glaucoma, leptomeningeal angiomas, seizures, and intellectual disability. Few studies report an overall description of findings and treatment for children with Sturge-Weber glaucoma (SWG), which can be challenging to manage. (Source: Journal of AAPOS)
Source: Journal of AAPOS - August 1, 2021 Category: Opthalmology Authors: Harald Gjerde, Abdelrahman M. Elhusseiny, Deborah VanderVeen Source Type: research

Neurological presentations and cognitive outcome in Sturge-Weber syndrome
This study of children with Sturge-Weber syndrome (SWS) profiled neurological presentations; compared patients with (+) and without (-) port-wine stain (PWS); and determined risk factors for intellectual and language impairments.METHODS: A retrospective case note review was conducted at a national centre.RESULTS: This cohort (n = 140, male 72, median follow up 114 months) showed sex parity. Intellectual disability ("ID": IQ ≤ 70) affected half (66), being severe (IQ ≤ 40) in two-fifths (27) with ID. Language disorder (core score≤70) affected half (57). Neurological presentations were: status epilepticus ...
Source: European Journal of Paediatric Neurology - July 22, 2021 Category: Neurology Authors: Sebastian Powell Tangunu Fosi Jenny Sloneem Christina Hawkins Hanna Richardson Sarah Aylett Source Type: research

Neurological presentations and cognitive outcome in Sturge-Weber syndrome
This study of children with Sturge-Weber syndrome (SWS) profiled neurological presentations; compared patients with (+) and without (-) port-wine stain (PWS); and determined risk factors for intellectual and language impairments.METHODS: A retrospective case note review was conducted at a national centre.RESULTS: This cohort (n = 140, male 72, median follow up 114 months) showed sex parity. Intellectual disability ("ID": IQ ≤ 70) affected half (66), being severe (IQ ≤ 40) in two-fifths (27) with ID. Language disorder (core score≤70) affected half (57). Neurological presentations were: status epilepticus ...
Source: European Journal of Paediatric Neurology - July 22, 2021 Category: Neurology Authors: Sebastian Powell Tangunu Fosi Jenny Sloneem Christina Hawkins Hanna Richardson Sarah Aylett Source Type: research

Neurological presentations and cognitive outcome in Sturge-Weber syndrome
This study of children with Sturge-Weber syndrome (SWS) profiled neurological presentations; compared patients with (+) and without (-) port-wine stain (PWS); and determined risk factors for intellectual and language impairments.METHODS: A retrospective case note review was conducted at a national centre.RESULTS: This cohort (n = 140, male 72, median follow up 114 months) showed sex parity. Intellectual disability ("ID": IQ ≤ 70) affected half (66), being severe (IQ ≤ 40) in two-fifths (27) with ID. Language disorder (core score≤70) affected half (57). Neurological presentations were: status epilepticus ...
Source: European Journal of Paediatric Neurology - July 22, 2021 Category: Neurology Authors: Sebastian Powell Tangunu Fosi Jenny Sloneem Christina Hawkins Hanna Richardson Sarah Aylett Source Type: research

Sturge-Weber Syndrome: An Extensive Cutaneous Presentation
Acta Med Port. 2021 May 2;34(5):387. doi: 10.20344/amp.12671. Epub 2021 May 3.NO ABSTRACTPMID:34253280 | DOI:10.20344/amp.12671 (Source: Acta Medica Portuguesa)
Source: Acta Medica Portuguesa - July 13, 2021 Category: General Medicine Authors: Regina Caldas Maria Guimar ães Olga Ferreira Source Type: research

Total and partial posterior quadrant disconnection for medically refractory epilepsy: a systematic review
1.5T: 1.5 Tesla; 3T: 3 Tesla; ECoG: electrocorticography; EEG: electroencephalography; FCD: focal cortical dysplasia; fMRI: functional magnetic resonance imaging; icEEG: intracranial electroencephalography; ILAE: International League Against Epilepsy; MEG: magnetoencephalography; MRI: magnetic resonance imaging; PET: positron emission tomography; PQD: posterior quadrant disconnection; PRISMA-P: Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols; PVNH: periventricular nodular heterotopia; SEEG: stereo-electroencephalography; SPECT: single-photon emission computed tomography; SWS: Sturge-Weber syndro...
Source: Seizure: European Journal of Epilepsy - May 28, 2021 Category: Neurology Authors: Christopher Markosian, Vincent Dodson, Helen J. Zhang, Rajeshwari S. Mahalingam, Eric B. Geller, Luke D. Tomycz Source Type: research

The prevalence and profile of autism in Sturge-Weber syndrome
J Autism Dev Disord. 2021 May 27. doi: 10.1007/s10803-021-05062-0. Online ahead of print.ABSTRACTA systematic retrospective case note review was undertaken to investigate autism diagnostic factors in 124 individuals with Sturge-Weber syndrome (SWS). Social Responsiveness Scale questionnaires were then analysed to explore the severity and profile of autism characteristics in 70 participants. Thirty-two to forty percent of participants had a clinical diagnosis of autism and half of those without a diagnosis showed significant social communication difficulties. Children had a relative strength in social awareness and social m...
Source: Journal of Autism and Developmental Disorders - May 27, 2021 Category: Psychiatry Authors: Jenny Sloneem Jo Moss Sebastian Powell Christina Hawkins Tang Fosi Hanna Richardson Sarah Aylett Source Type: research

Consensus Statement for the Management and Treatment of Sturge-Weber Syndrome: Neurology, Neuroimaging, and Ophthalmology Recommendations
Sturge-Weber Syndrome (SWS) is a sporadic, neurocutaneous syndrome involving the skin, brain, and eyes. Given the variability of clinical outcome and the lack of prospective studies, consensus recommendations for management and treatment have not reached a conclusion. (Source: Pediatric Neurology)
Source: Pediatric Neurology - May 5, 2021 Category: Neurology Authors: Sara Sabeti, Karen L. Ball, Sanjoy K. Bhattacharya, Elena Bitrian, Lauren S. Blieden, James D. Brandt, Craig Burkhart, Harry T. Chugani, Stephen J. Falchek, Badal G. Jain, Csaba Juhasz, Jeffrey A. Loeb, Aimee Luat, Anna Pinto, Eric Segal, Jonathan Salvin, Tags: Original Articles Source Type: research

Retinal Detachment in a 40-Year-Old Man With Sturge-Weber Syndrome
A 40-year-old man presents with decreased vision 3 weeks after undergoing a 2-stage Baerveldt implantation. Ocular history shows Sturge-Weber syndrome, secondary glaucoma, and chronic retinal detachment. Examination showed a red glow of the fundus with shifting subretinal fluid and retinal detachment in the left eye, and retinal detachment and demonstrated homogeneous diffuse choroidal thickening in the right eye. What would you do next? (Source: JAMA Ophthalmology)
Source: JAMA Ophthalmology - May 1, 2021 Category: Opthalmology Source Type: research

Current concepts on diffuse choroidal hemangioma in Sturge Weber syndrome
Conclusions: Multimodal ophthalmological imaging facilitates diagnosis of DCH and lifelong surveillance is essential in patients.PMID:33843430 | DOI:10.1080/13816810.2021.1910963 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - April 12, 2021 Category: Opthalmology Authors: Martina Formisano Maria Chiara di Pippo Luca Scuderi Solmaz Abdolrahimzadeh Source Type: research

Periodontal rehabilitation in a deaf patient with symptomatic epilepsy in Sturge-Weber syndrome - a case report
This article reports on a female patient who was referred to the Center for Dental Medicine at the University of Zurich. In addition to various secondary carious lesions, an apical whitening, two carious wisdom teeth and two extremely mobile molars in the third quadrant, the patient had chronic, localized advanced (stage III, grade B) periodontitis associated with systemic disease (deafness and Sturge-Weber syndrome). For two years, the patient was treated at the Department of Periodontology. Due to the strong bleeding tendency on the left side, facial localization of the naevus flammeus, the patient was partially referred...
Source: Schweizer Monatsschrift fur Zahnmedizin - April 1, 2021 Category: Dentistry Authors: Manuela E Kaufmann Dominik A Oechslin Andr é Barghorn Patrick R Schmidlin Source Type: research