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
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.
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.
PMID: 31433382 [PubMed - as supplied by publisher]
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.
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]
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...
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.
We aimed to identify the current status and major unmet needs in the management of neurological complications in Sturge-Weber syndrome.
To identify the current status and major unmet needs in the management of neurologic complications in Sturge-Weber syndrome (SWS).
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]