One of the main manifestations of Sturge Weber syndrome is seizures. We report the case of a child received in the context of generalized seizures and in whom a cerebral contrast CT was sufficient to make the diagnosis of Sturge Weber syndrome.
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| http://dx.doi.org/10.11604/pamj.2020.36.308.24989 | DOI Listing |
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Multidisciplinary, multicenter consensus for the care of patients affected with Sturge-Weber syndrome.
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Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Background: Sturge-Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to somatic activating mutations in GNAQ or, less commonly, GNA11 gene. It is characterized by at least two of the following features: a facial capillary malformation, leptomeningeal vascular malformation, and ocular involvement. The spectrum of clinical manifestations includes headache, seizures, stroke-like events, intellectual disability, glaucoma, facial asymmetry, gingival hyperplasia, etc.
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Semin Ophthalmol
January 2025
Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, WI, USA.
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Department of Radiology, Sengkang General Hospital, Singapore.
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SWI brush sign of cerebral parenchymal veins in central nervous system diseases.
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December 2024
Department of Radiology, Mie University Graduate School of Medicine, 2-174 Edobashi, Tsu, Mie, 514-8507, Japan.
Brush sign (BS) was first reported as prominent hypointensity of deep medullary veins and subependymal veins on T2*-weighted images at 3 T MRI in patients with acute stroke in the territory of the middle cerebral artery. Subsequently, BS in central nervous system (CNS) diseases such as moyamoya disease, cerebral venous thrombosis, and Sturge-Weber syndrome was also described on susceptibility-weighted imaging (SWI), and the clinical implications of BS were discussed. The purpose of this review is to demonstrate BS on SWI in various CNS diseases and its mechanisms in the above-mentioned diseases.
View Article and Find Full Text PDFA case report of macular coloboma as an ocular clinical feature in Sturge Weber Syndrome.
Int J Surg Case Rep
January 2025
King Khaled Eye Specialist Hospital, KKESH, Riyadh, Saudi Arabia.
Introduction And Importance: Sturge Weber Syndrome (SWS) is a congenital neurocutaneous disorder that affects several organs. Abnormal ocular findings are typically on the same side as the SWS. These changes can affect various parts of the eye, including the eyelid, front chamber, cornea, choroid, and retina.
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