Birthmark Has Genetic Ties to Neural Syndrome (CME/CE)
(MedPage Today) -- The same genetic mutation causes both uncomplicated port-wine stains and Sturge-Weber syndrome, which is characterized by the same staining plus leptomeningeal vascular abnormalities, researchers reported.
Condition: Sturge-Weber Syndrome Intervention: Drug: Cannabidiol Sponsors: Anne Comi, MD; GW Pharmaceuticals Ltd.; Faneca 66 Foundation Recruiting
CONCLUSIONS: Headache is common in children with SWS, often without classical migraine features and affects daily activities. Awareness of headache and its associations in SWS may improve management of this complex population. PMID: 32561288 [PubMed - as supplied by publisher]
AbstractThis 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 n...
Ramesh S Doddamani, Manjari Tripathi, Raghu Samala, Mohit Agarwal, Bhargavi Ramanujan, Sarat P ChandraNeurology India 2020 68(2):270-273 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. However, before considering surgery, ...
Children with forehead port-wine stains (PWS) are at risk of Sturge-Weber Syndrome (SWS). However, most will not develop neurologic manifestations.
Conclusions: SWS affects approximately 0.19/100,000/year in Olmsted County. Early diagnosis, intervention, lifelong follow-up, and multidisciplinary approach should be used to optimize systemic and ocular outcomes. PMID: 32233696 [PubMed - as supplied by publisher]
CONCLUSIONS: Patients with malformations of cortical development have a higher risk of seizure recurrence, and these malformations comprised the main etiology in the reoperation series. Failure of an initial hemispherotomy usually occurs due to incomplete disconnection and needs to be extensively assessed. Outcomes of reoperation are most often favorable, with acceptable complication rates. PMID: 32234979 [PubMed - in process]
CONCLUSION: Our results supported the potential of AATs using A1R agonist to be a novel therapy for reducing life burden from patients with refractory epilepsy in SWS, with application to epileptic generation region but not propagation region. PMID: 32208337 [PubMed - as supplied by publisher]
Sturge-Weber syndrome (SWS) is a neurocutaneous disorder associated with epilepsy, glaucoma, cognitive impairments, and a port-wine birthmark. Although individuals with SWS are vulnerable to known risk factors for suicide, including chronic illness and physical differences (port-wine birthmark), frequency of suicidal ideation and attempts in youth and adults with SWS is unknown.
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