Updates and future horizons on the understanding, diagnosis, and treatment of Sturge-Weber syndrome brain involvement

Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH, USA.
Developmental Medicine & Child Neurology (Impact Factor: 3.51). 12/2011; 54(3):214-23. DOI: 10.1111/j.1469-8749.2011.04169.x
Source: PubMed


To review recent developments in the understanding, diagnosis, and treatment of Sturge-Weber syndrome (SWS).
Members of the Brain Vascular Malformation Consortium Sturge-Weber Syndrome National Workgroup contributed their expertise to review the literature and present promising directions for research.
The increasing number of reports dealing with SWS over the last decade reflects progress in the diagnosis and understanding of the neurological involvement. The proliferation of centers and advocacy groups to care for patients with SWS and to stimulate research has aided the development of new insights into the clinical manifestations and the pathophysiology of neurological progression, and the development of novel hypotheses to direct future research. Many key questions remain, but the tools and networks to answer them are being developed.
This review summarizes important new knowledge and presents new research directions that are likely to provide further insights, earlier diagnosis, improved treatments, and possibly, prevention of this syndrome.

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Available from: Joshua Benjamin Ewen, Oct 07, 2014
  • Article: Response.

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    ABSTRACT: In this study, we examined whether topologic network analysis, using resting state functional magnetic resonance imaging (MRI), can detect abnormalities of functional brain connectivity in children with unilateral brain injury due to Sturge-Weber syndrome. Three children with Sturge-Weber syndrome (ages 1, 3, and 10 years) underwent structural and resting state functional MRI, glucose metabolism positron emission tomography (PET), and neurocognitive evaluation. Eight different resting state networks were compared between the affected and unaffected hemispheres by quantitatively accessing communication efficiency measures. Significantly reduced efficiency values were found in all 3 patients. Visual network deficiency was present in both children with a visual field defect; frontal network abnormalities were associated with fine motor impairment. Location of network abnormalities corresponded to and, in some cases, extended beyond structural MRI and glucose PET abnormalities. The presented approach can detect early functional abnormalities of specific brain networks in children with Sturge-Weber syndrome.
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    ABSTRACT: Sturge-Weber syndrome (SWS) is characterized by the association of a facial capillary malformation with a vascular malformation of the eye, and/or vascular malformation of the brain. We report a case of 7-year-old boy who presented with a deep purple nevus of 5x7 cm on left side of the face since birth and gelastic seizures. Clinically, gelastic episodes were diagnosed secondary to SWS that improved with aggressive seizure management and low-dose aspirin use. We have attempted to identify the pathophysiology of the rare episodes in SWS. The case report underlines that the epileptic phenomena of the SWS may manifest with gelastic seizures and need correct identification and appropriate response for optimal management by doctors.
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