Resumen

VELASQUEZ-GALLEGO, Catalina; CEBALLOS-RUIZ, Juan Felipe; RUIZ-JARAMILLO, Natalia  y  VILLAMIZAR-LONDONO, Catherine. Sturge-Weber Syndrome: A Case Report And Literature Review. Rev Ecuat Neurol [online]. 2019, vol.28, n.2, pp.105-114. ISSN 2631-2581.

Sturge-Weber Syndrome is a rare developmental neuroectodermical disorder. It is characterized by a facial port-wine stain and a leptomeningeal angiomata, frequently localized ipsilateral to the facial port-wine stain. This syndrome predisposes either to brain atrophy, calcifications and refractory seizures. In this paper a Sturge-Weber Syndrome literature review was made and a 18 month aged child case with this diagnosis is reported. He was admitted to the emergency department of a local hospital with a history of three days of fever and tonic-clonic seizures localized on the right side and refractory to conventional treatment. This review highlights the importance of an early diagnosis and an appropriate follow up. To carry out this review a search in PubMed, Science Direct and Scielo databases was done, confirming that there are some issues about this disorder that are still unknown. However, with the GNAQ somatic mutation discovery, there is an open field for new researches. It is very important in medical practice not to understimate a facial port-wine stain over trigeminal territory in newborns in order to make an early diagnosis and try to achieve a better future neurodevelopment.

Palabras clave : Sturge-weber; seizure; angiomata; leptomeningeal; facial stain..

        · resumen en Español     · texto en Español     · Español ( pdf )