Researchers Pinpoint Cause of Port-Wine Stain Birthmarks

Single, random change to gene during fetal development causes birthmarks and the more serious Sturge-Weber syndrome
Source: WebMD Health - Category: Consumer Health News Source Type: news

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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.
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: Original Articles Source Type: research
In this study, we aimed to present a patient with Sturge-Weber syndrome who had atypical radiological findings and with dural arteriovenous fistula. The patient presented with hemifacial asymmetry. Sturge-Weber syndrome may present with atypical radiological findings and additional pathologies.
Source: Journal of Craniofacial Surgery - Category: Surgery Tags: Brief Clinical Studies Source Type: research
PMID: 31433382 [PubMed - as supplied by publisher]
Source: Dermatitis - Category: Dermatology Authors: Tags: Dermatitis Source Type: research
Intracranial vascular abnormalities in Surge-Weber syndrome (SWS), including leptomeningeal angiomatosis, anomalous cortical venous structures, and transmedullary developmental venous anomalies (DVAs), are well recognized. Prominent vascular flow voids on T2-weighted Magnetic Resonance Imaging (MRI) are occasionally identified in patients with SWS, raising concern of arteriovenous malformations (AVM), a congenital high-flow vascular malformation with a risk of bleeding.
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Short Communication Source Type: research
We present the results of preventive antiepileptic treatment in children with Sturge-Weber syndrome and Tuberous Sclerosis Complex as examples of the possible prevention of epilepsy and epilepsy-associated cognitive impairment in children. PMID: 31166003 [PubMed - indexed for MEDLINE]
Source: Neurologia i Neurochirurgia Polska - Category: Neurology Authors: Tags: Neurol Neurochir Pol Source Type: research
AbstractPurposeAccelerated 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).MethodsFourteen children with unilateral SWS were categorized according to age, i.e., ≤ 2 years (group A,n = 5, mean age 1.1 years, 3 males) and>  2 years (group B,n = 9, mean age 3.9 years, 4 males). All children underwent two-dimensional synthetic qMRI. The mye...
Source: Neuroradiology - Category: Radiology Source Type: research
We report two cases with rare concomitant retinal vascular abnormalities along with SWS. Both the patients had nevus flammeus, hemifacial hypertrophy, and choroidal hemangioma. In one case, retinal cavernous hemangioma was seen in the affected eye. The other case revealed retinal neovascularization secondary to proliferative diabetic retinopathy in the eye with choroidal hemangioma.
Source: Indian Journal of Ophthalmology - Category: Opthalmology Authors: Source Type: research
We aimed to identify the current status and major unmet needs in the management of neurological complications in Sturge-Weber syndrome.
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Original Article Source Type: research
To identify the current status and major unmet needs in the management of neurologic complications in Sturge-Weber syndrome (SWS).
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Original Articles Source Type: research
We present the results of preventive antiepileptic treatment in children with Sturge-Weber syndrome and Tuberous Sclerosis Complex as examples of the possible prevention of epilepsy and epilepsy-associated cognitive impairment in children. PMID: 31166003 [PubMed - as supplied by publisher]
Source: Neurologia i Neurochirurgia Polska - Category: Neurology Authors: Tags: Neurol Neurochir Pol Source Type: research
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