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Gaceta Médica Boliviana

On-line version ISSN 1012-2966


SANZ-ARRAZOLA, Heydi Yvana  and  ANTEZANA-LLAVETA, Gabriela. Sturge-Weber syndrome: literature review . Gac Med Bol [online]. 2020, vol.43, n.2, pp.200-206. ISSN 1012-2966.

Sturge-Weber syndrome is a rare, sporadic, congenital neurocutaneous disorder affecting approximately 1 in 20,000 to 50,000 live births that is associated with a somatic activating gene mutation in GNAQ. Clinically it is characterized by the presence of a port wine stain on the skin of trigeminal territory, leptomeningeal angiomatosis and glaucoma. It can be associated with different clinical manifestations, of which the epileptic seizures represents the most frequent neurological manifestation associated with significant cognitive impairment in these patients. This article makes a descriptive review of the literature on the etiological, pathophysiological, classification, clinical, diagnostic and treatment aspects of Sturge-Weber syndrome.

Keywords : Sturge-Weber syndrome; angiomatosis; leptomeningeal; epileptic seizures.

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