Maikel Germán Correa Sánchez¹* and Yesenia Aguilar Maceo²

¹Specialist in Neurology, University of Medical Sciences of Santiago de Cuba, Cuba. Corresponding Member of the Spanish Society of Neurology
²Specialist in Neurology, University of Medical Sciences of Santiago de Cuba, Cuba. Corresponding Member of the Spanish Society of Neurology

*Corresponding Author: Maikel Germán Correa Sánchez and Yesenia Aguilar Maceo, Specialist in Neurology, University of Medical Sciences of Santiago de Cuba, Cuba. Corresponding Member of the Spanish Society of Neurology.

Received: January 19, 2024; Published: February 19, 2024

Abstract

Sturge-Weber syndrome (SSW) is a congenital and sporadic neurocutaneous disorder of a non-hereditary nature, although some familial cases have been described, it has currently been associated with a somatic activating mutation in the GNAQ gene (Protein GQ subunit Alpha G) on chromosome 9q21. Due to its low prevalence, it belongs to the group of so-called rare diseases. It is characterized by the presence of a characteristic skin lesion called port wine stain or nevus flammeus, very common in childhood (1/300 newborns) and persists throughout life, associated with leptomeningeal angiomatosis or angiomatosis in the choroid of the eye, epileptic seizures as the most frequent neurological manifestation that can be associated with significant cognitive impairment in these patients.

Case report: A 27-year-old male patient presented with a history of "port wine stain" since birth, with epileptic seizures that were difficult to control at the beginning. Diagnosis was made by clinical presentation, computed tomography, electroencephalogram, and CSF characteristics.

 Keywords: Sturge; Weber; Port Wine Stain; Leptomeningeal Angiomatosis; Epileptic Seizures

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Citation

Citation: Maikel Germán Correa Sánchez and Yesenia Aguilar Maceo. “Sturge-Weber Syndrome: Presentation of a Clinical Case through a Literature Review”. Acta Scientific Neurology 7.3 (2024): 21-25.

Copyright

Copyright: © 2024 Maikel Germán Correa Sánchez and Yesenia Aguilar Maceo. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.