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Journal of Pediatric Epilepsy 2016; 05(02): 082-088
DOI: 10.1055/s-0035-1570129
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Sturge–Weber Syndrome

Mathieu Kuchenbuch
1   Department of Clinical Neurophysiology, CHU of Rennes, University of Rennes, Faculty of Medicine, Rennes, France
,
Rima Nabbout
2   Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Paris-Descartes University, Necker Enfants Malades Hospital, Paris, France
› Author Affiliations
Further Information

Publication History

10 June 2015

18 June 2015

Publication Date:
11 January 2016 (online)

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Abstract

Sturge–Weber syndrome is a rare neurocutaneous syndrome defined by the association of a facial angioma in the ophthalmic distribution of the trigeminal nerve, with ipsilateral glaucoma, and leptomeningeal angioma. This syndrome is suspected early at birth because of facial angioma in the trigeminal nerve area. Magnetic resonance imaging with gadolinium enhancement is today the gold standard technique to visualize the leptomeningeal angioma or to show its indirect signs before the development of neurological signs. The prognosis of Sturge–Weber syndrome is related to the severity of neurological signs that usually develop after birth later in life (epilepsy, hemiparesis, and intellectual disability). Seizures are often the first neurological symptom with frequently inaugurating status epilepticus that remains frequent in infancy. Repetitive seizures and status epilepticus might increase the brain atrophy in regard to the leptomeningeal angioma. Preventive presymptomatic antiepileptic therapy is thought to be preventive and might be recommended. Training of parents to the use of rescue benzodiazepine in case of seizures is mandatory. Surgery should be considered in patients intractable to antiepileptic drugs.

Keywords

facial angioma - pial angioma - leptomeningeal angioma - epilepsy - port-wine stain - status epilepticus - trigeminal nerve
 

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