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To what extent could laser therapy and surgical excision be combined for port-wine stain management?
Published in Byung-Boong Lee, Peter Gloviczki, Francine Blei, Jovan N. Markovic, Vascular Malformations, 2019
Location alone cannot be used for definitive diagnosis. If the PWS lesion is located on the face, not all PWSs on the face are Sturge–Weber syndrome. But, at birth not all typical symptoms for a Sturge–Weber syndrome diagnosis are present, e.g., glaucoma and seizure(s).6 However, there is a high risk for this syndrome if the lesions affect the entire face, including periocular and/or perioral regions. (For further diagnostic assessment, see Chapter 87.)
Test Paper 4
Published in Teck Yew Chin, Susan Cheng Shelmerdine, Akash Ganguly, Chinedum Anosike, Get Through, 2017
Teck Yew Chin, Susan Cheng Shelmerdine, Akash Ganguly, Chinedum Anosike
Sturge–Weber syndrome is a rare neurocutaneous disorder characterised by abnormal vascular malformation involving the skin (ophthalmic branch of the trigeminal nerve) and leptomeninges of the brain. The facial capillary port-wine stain is usually ipsilateral to the leptomeningeal venous angiomatosis. Tram-track cortical calcification (T2 hypointensity) and cortical atrophy is probably secondary to underlying ischaemia. Associated calvarial thickening, enlarging diploic space and increased pneumatisation of mastoid air cells (Dyke–Davidoff–Mason Syndrome) and ipsilateral enlargement of choroid plexus may also be seen. Angioma of the choroid of the eye is also a characteristic finding.
Long and short cases
Published in Vivian A. Elwell, Ramez Kirollos, Syed Al-Haddad, Neurosurgery, 2014
Vivian A. Elwell, Ramez Kirollos, Syed Al-Haddad
Sturge–Weber syndrome is a rare congenital neurological and skin disorder. It is often associated with port-wine stains of the face, glaucoma, seizures, mental retardation, and ipsilateral leptomeningeal angioma. It is characterized by abnormal blood vessels on the brain surface. Normally, only one side of the brain is affected. Sturge–Weber is an embryonal developmental anomaly resulting from errors in mesodermal and ectodermal development. Most cases are sporadic. It is caused by a somatic activating mutation occurring in the GNAQ gene.
Controversies in Pediatric Angle Surgery and Secondary Surgical Treatment
Published in Seminars in Ophthalmology, 2023
Alexander K. Young, Deborah K. Vanderveen
A benefit of a GDD following primary angle surgery is the flexibility to place the drainage device in one of four quadrants between extraocular muscles, rather than be limited to placing a bleb underneath the upper eyelid in the superior quadrant.31 Another benefit of implantation of the drainage devices is the option for a second tube shunt if the refractory glaucoma persists or recurs. This has been shown to raise the five-year success rate.28 The first tube shunt is often left untouched, while the second tube shunt is placed in a different quadrant.32 Of note, Sturge-Weber syndrome has been a particularly challenging syndromic glaucoma that is frequently refractory. Due to the low success rate with primary angle surgery, many surgeons have opted to implant a GDD not only as a secondary surgery but as a primary one. However, the success rate in this subtype has been reported to be as low as 30% at 60 months postoperatively.33
Managing pregnancy in women with Sturge-Weber syndrome: case report and review of the literature
Published in Journal of Obstetrics and Gynaecology, 2022
Vignesh Durai, Haritha Sagili, Jayalakshmi Durairaj, Ramesh Ananthakrishnan, Pradeep P. Nair, Arun Keepanasseril, Anish Keepanasseril
Sturge-Weber syndrome (SWS), a sporadic congenital neuro-cutaneous disorder, is characterised by ipsilateral leptomeningeal angioma, facial angioma (nevus flammeus or port wine stain (PWS)) and glaucoma (Sudarsanam and Ardern-Holmes 2014). A sporadic somatic mutation in the GNAQ gene (G-protein subunit alpha Q) on chromosome 9q21 leads to ectodermal and mesodermal development errors (Luo et al. 2020; Polubothu et al. 2020). In these cases, hormonal and hemodynamic changes in pregnancy may predispose to increased seizures and even a life-threatening intracranial haemorrhage (Tadrous et al. 2011). There are only a few reports and series available regarding the management of women with SWS during pregnancy and postpartum (Dolkart and Bhat 1995; Singh et al. 2005; Zanconato et al. 2008; Aziz et al. 2013; Luo et al. 2020). Here, we report two pregnancies in women with SWS and reviewed the literature from 1995 till 2020 for pregnancy outcomes and complications.
OCT Imaging in Infants
Published in Seminars in Ophthalmology, 2022
Sushma Jayanna, Subhadra Jalali, Tapas R Padhi, Komal Agarwal, Jay Chhablani
Choroidal hemangiomas can be focal or diffuse in nature. Diffuse variety are associated with Sturge-weber syndrome. Diffuse choroidal thickening with retinal vessels tortuosity, hemorrhages, and retinal detachment can be noted clinically. OCT findings include RNFL thinning, focal or diffuse disruption of RPE and choroidal thickening. secondary changes in the overlying retina like intra and subretinal fluid and photoreceptor degeneration. Lesions if involves fovea can cause a vision deterioration. Choroidal thickening is confined to the eye with the tumor and normal choroidal thickness in the other eye. OCT plays an important role in assessing the extent of involvement which helps in precise treatment with either photodynamic therapy or radiation therapy. It also helps in monitoring the lesion after treatment.23,39