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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).
- Alexander GL (1972) Sturge–Weber disease. In: Vinken PJ, Bruyn GW (eds) Handbook of clinical neurology. The phakomatoses, vol 14. Elsevier, New York, pp 223–240Google Scholar
- Bergstrand H, Olivecrona H, Tonnis W (1936) Gefassmissbildungen and gefassgeschwulte des gehrins. Thieme, Leipzig, p 181Google Scholar
- Kalischer S (1897) Demonstration des Gehirns eines kindes mit teleangiektasie der linksseitigen gesichts-kopfhaut und hirnoberflache. Berl Klin Wochenschr 34:1059–1067Google Scholar
- Schrimer R (1860) Ein fall von telangiektasie. Albrecht von Graefes. Arch Ophtalmol 7:119–121Google Scholar
- Sturge WA (1879) A case of partial epilepsy apparently due to a lesion of the vasomotor centers of the brain. Trans Clin Soc Lond 12:162–167Google Scholar