Sturge-Weber syndrome (SWS), also called encephalotrigeminal angiomatosis, is a rare, sporadic, neurocutaneous syndrome affecting the cephalic microvasculature. Its prevalence is actually estimated at 1 per 50,000 live births, although the identification of milder forms has recently led to an increase of this frequency estimate. Men and women are equally affected and there is no racial bias. Familial cases are rare; this aspect, together with the lack of clinical similarity in monozygotic twins, has suggested a somatic mutation as a possible mean of disease transmission. Differently from other neurocutaneous syndromes, such as von Hippel-Lindau, von Recklinghausen, and the Bourneville-Pringle disease, Sturge-Weber syndrome is not associated with intracranial neoplasms. However, in this syndrome an extensive capillary-venous malformation affecting one and occasionally both cerebral hemispheres may be associated with intractable epilepsy and progressive mental retardation, which may eventually require extensive neurosurgical procedures (lobectomy or hemispherectomy).
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