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Chapter 26 - Sturge–Weber syndrome
- from Section 3 - Symptomatic epilepsy
- Edited by Simon D. Shorvon, Frederick Andermann, Renzo Guerrini
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- Book:
- The Causes of Epilepsy
- Published online:
- 05 March 2012
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- 14 April 2011, pp 189-195
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Summary
This chapter presents the clinical features, etiology, and treatment of Sturge-Weber syndrome (SWS). SWS is a rare, sporadic, congenital disorder arising from an early developmental lesion affecting the facial skin, the eye, and the central nervous system. The association of neurological and developmental deterioration and the onset of seizures means that patients with SWS often suffer considerable disability. The effect of choroidal or ciliary body hemangioma in SWS interferes with the angle of the eye, causing elevated episcleral venous pressure or hypersecretion of fluid. Epileptic seizures are the predominant symptom of SWS and occur in about 80% of cases presenting port-wine stain (PWS) and leptomeningeal angioma. Magnetic resonance imaging (MRI) should be performed at a distance of a seizure event to avoid false interpretation of gadolinium enhancement, due to contrast leakage because of alteration of the blood-brain barrier.
Contributors
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- By Jane E. Adcock, Yahya Aghakhani, A. Anand, Eva Andermann, Frederick Andermann, Alexis Arzimanoglou, Sandrine Aubert, Nadia Bahi-Buisson, Carman Barba, Agatino Battaglia, Geneviève Bernard, Nadir E. Bharucha, Laurence A. Bindoff, William Bingaman, Francesca Bisulli, Thomas P. Bleck, Stewart G. Boyd, Andreas Brunklaus, Harry Bulstrode, Jorge G. Burneo, Laura Canafoglia, Laura Cantonetti, Roberto H. Caraballo, Fernando Cendes, Kevin E. Chapman, Patrick Chauvel, Richard F. M. Chin, H. T. Chong, Fahmida A. Chowdhury, Catherine J. Chu-Shore, Rolando Cimaz, Andrew J. Cole, Bernard Dan, Geoffrey Dean, Alessio De Ciantis, Fernando De Paolis, Rolando F. Del Maestro, Irissa M. Devine, Carlo Di Bonaventura, Concezio Di Rocco, Henry B. Dinsdale, Maria Alice Donati, François Dubeau, Michael Duchowny, Olivier Dulac, Monika Eisermann, Brent Elliott, Bernt A. Engelsen, Kevin Farrell, Natalio Fejerman, Rosalie E. Ferner, Silvana Franceschetti, Robert Friedlander, Antonio Gambardella, Hector H. Garcia, Serena Gasperini, Lorenzo Genitori, Gioia Gioi, Flavio Giordano, Leif Gjerstad, Daniel G. Glaze, Howard P. Goodkin, Sidney M. Gospe, Andrea Grassi, William P. Gray, Renzo Guerrini, Marie-Christine Guiot, William Harkness, Andrew G. Herzog, Linda Huh, Margaret J. Jackson, Thomas S. Jacques, Anna C. Jansen, Sigmund Jenssen, Michael R. Johnson, Dorothy Jones-Davis, Reetta Kälviäinen, Peter W. Kaplan, John F. Kerrigan, Autumn Marie Klein, Matthias Koepp, Edwin H. Kolodny, Kandan Kulandaivel, Ruben I. Kuzniecky, Ahmed Lary, Yolanda Lau, Anna-Elina Lehesjoki, Maria K. Lehtinen, Holger Lerche, Michael P. T. Lunn, Snezana Maljevic, Mark R. Manford, Carla Marini, Bindu Menon, Giulia Milioli, Eli M. Mizrahi, Manish Modi, Márcia Elisabete Morita, Manuel Murie-Fernandez, Vivek Nambiar, Lina Nashef, Vincent Navarro, Aidan Neligan, Ruth E. Nemire, Charles R. J. C. Newton, John O'Donavan, Hirokazu Oguni, Teiichi Onuma, Andre Palmini, Eleni Panagiotakaki, Pasquale Parisi, Elena Parrini, Liborio Parrino, Ignacio Pascual-Castroviejo, M. Scott Perry, Perrine Plouin, Charles E. Polkey, Suresh S. Pujar, Karthik Rajasekaran, R. Eugene Ramsey, Rahul Rathakrishnan, Roberta H. Raven, Guy M. Rémillard, David Rosenblatt, M. Elizabeth Ross, Abdulrahman Sabbagh, P. Satishchandra, Swati Sathe, Ingrid E. Scheffer, Philip A. Schwartzkroin, Rod C. Scott, Frédéric Sedel, Michelle J. Shapiro, Elliott H. Sherr, Michael Shevell, Simon D. Shorvon, Adrian M. Siegel, Gagandeep Singh, S. Sinha, Barbara Spacca, Waney Squier, Carl E. Stafstrom, Bernhard J. Steinhoff, Andrea Taddio, Gianpiero Tamburrini, C. T. Tan, Raymond Y. L. Tan, Erik Taubøll, Robert W. Teasell, Mario Giovanni Terzano, Federica Teutonico, Suzanne A. Tharin, Elizabeth A. Thiele, Pierre Thomas, Paolo Tinuper, Dorothée Kasteleijn-Nolst Trenité, Sumeet Vadera, Pierangelo Veggiotti, Jean-Pierre Vignal, J. M. Walshe, Elizabeth J. Waterhouse, David Watkins, Ruth E. Williams, Yue-Hua Zhang, Benjamin Zifkin, Sameer M. Zuberi
- Edited by Simon D. Shorvon, Frederick Andermann, Renzo Guerrini
-
- Book:
- The Causes of Epilepsy
- Published online:
- 05 March 2012
- Print publication:
- 14 April 2011, pp ix-xvi
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16 - Facial seizures associated with brainstem and cerebellar lesions
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- By A. Simon Harvey, Department of Neurology, Royal Children's Hospit al, Parkville, Victoria, Australia, Michael Duchowny, Department of Neurology, Miami Children's Hospital, FL, USA, Alexis Arzimanoglou, Department of Child Neurology, L'Hôpital Robert Debré, Paris, France, Jean Aicardi, Department of Child Neurology, L'Hôpital Robert Debré, Paris, France
- Edited by Renzo Guerrini, University of London, Jean Aicardi, Hôpital Robert-Debré, Paris, Frederick Andermann, Montreal Neurological Institute & Hospital, Mark Hallett, National Institutes of Health, Baltimore
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- Book:
- Epilepsy and Movement Disorders
- Published online:
- 03 May 2010
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- 13 December 2001, pp 269-278
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Summary
Hemifacial seizures and cerebellar ganglioglioma
In 1996 Harvey et al. reported an infant with a cerebellar ganglioglioma and episodes of hemifacial contraction that were shown conclusively to be epileptic seizures of cerebellar origin. Previous reports in the literature of six infants with cerebellar tumours and ‘hemifacial spasm’ suggested they might have a similar syndrome of cerebellar epilepsy. Since the report by Harvey et al., there have been three further cases reported (Arzimanoglou, 1996; A.S. Harvey et al., unpublished data), with further ictal SPECT evidence in two cases to support an epileptic basis to the attacks of ‘hemifacial spasm’. The clinical seizure characteristics, the location and signal characteristics of the lesions on magnetic resonance imaging (MRI), and the histopathological features of the tumours in these ten patients are so strikingly similar as to conceivably constitute an epilepsy syndrome of infancy characterized by seizures of cerebellar origin.
The initial case remains the most well-studied case in the literature, with unequivocal evidence of an epileptic basis and cerebellar origin of seizures (Harvey et al., 1996). Her seizures began on day 1 of life with twitching of the left orbicularis oculi muscle. She was evaluated at the Miami Children's Hospital at age 6 months when attacks of ‘hemifacial spasm’ were occurring multiple times each day. Immediately prior to each episode she became quiet and fixed her gaze straight ahead.
25 - Motor attacks in Sturge–Weber syndrome
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- By Alexis Arzimanoglou, Department of Child Neurology, l'Hôpit al Robert Debré, Paris, France
- Edited by Renzo Guerrini, University of London, Jean Aicardi, Hôpital Robert-Debré, Paris, Frederick Andermann, Montreal Neurological Institute & Hospital, Mark Hallett, National Institutes of Health, Baltimore
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- Book:
- Epilepsy and Movement Disorders
- Published online:
- 03 May 2010
- Print publication:
- 13 December 2001, pp 393-406
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Summary
Introduction
Sturge–Weber syndrome (SWS), is a sporadic, congenital, frequently progressive, neurological disorder classically characterized by the association of a congenital facial capillary angioma with leptomeningeal angiomatosis. Epilepsy, mental retardation, and focal neurological deficits are the major neurologic abnormalities (Alexander & Norman, 1960; Alexander, 1972; Gomez & Bebin, 1987). The motor attacks include, in addition to epileptic seizures, transient hemiparesis or hemiplegia, often leaving a definite neurological deficit. Other features of the syndrome include hemiatrophy, homonymous hemianopia, glaucoma, dental abnormalities, and skeletal lesions (Roach & Bodensteiner, 1999).
Vascular abnormalities
Although the cutaneous capillary angioma is the hallmark of the SWS, most children born with facial port-wine stains do not have the syndrome. The SWS facial angioma is classically found on the forehead and upper eyelid. For a patient with any facial port-wine stain, the risk of having the SWS is only about 8%. It increases to 25% when half of the face, including the ophthalmic division of the trigeminal nerve, is involved (Morelli, 1999). Intracranial leptomeningeal angiomatosis is almost always ipsilateral to the cutaneous nevus. Exceptions to the rule are not infrequent and the correlation between the extent and location of the naevus and that of the pial angioma is poor (Alexander, 1972; Gomez & Bebin, 1987; Pascual-Castroviejo et al., 1993). Some children have bilateral nevus with unilateral pial involvement or vice versa. Angiomas may extend beyond the face and involve the neck, trunk or limbs on one or both sides (Uram & Zubillaga, 1982). In a recent series of 20 surgically treated SWS patients, six presented with extensive cutaneous angiomatosis, which was bilateral in three (Arzimanoglou et al., 2000).