Síndrome de Sturge Weber
Una revisión
DOI:
https://doi.org/10.51437/nj.v24i3.22Abstract
Resumen: El síndrome de Sturge Weber (SSW), también conocido como angiomatosis encefalofacial o encefalotrigeminal, se define por la presencia de un nevus facial con coloración vino de oporto en territorio del nervio trigémino, asociado a una malformación del ojo y/o malformación vascular cerebral ipsilateral. Es un trastorno congénito poco común, que hace parte de los síndromes neurocutáneos conocidos como facomatosis. El SSW tiene un curso variable, pero generalmente progresivo, que se manifiesta con convulsiones, episodios similares a un evento cerebrovascular, cefalea, deterioro neurológico y cognitivo, hemiparesia, glaucoma y defectos en el campo visual. Recientemente se confirmó la mutación del gen GNAQ en pacientes con SSW y con lesiones en vino de oporto no sindrómico. El tratamiento se basa en el manejo sintomático, enfocado al control de las crisis epilépticas con anticonvulsivantes o cirugía de epilepsia.
References
Roach ES, Bodensteiner JB. Sturge-Weber Syndrome: Introduction and Overview, in Bodensteiner JB, Roach ES (Eds). Mt. Freedom, NJ: Sturge-Weber Foundation; 1999.
Comi AM. Update on Sturge-Weber syndrome: diagnosis, treatment, quantitative measures, and controversies. Lymphat Res Biol. 2007;5(4):257-264. doi:10.1089/lrb.2007.1016.
Ch’ng S, Tan ST. Facial port-wine stains - clinical stratification and risks of neuro-ocular involvement. J Plast Reconstr Aesthet Surg. 2008;61(8):889-893. doi:10.1016/j. bjps.2007.05.011.
Comi a M. Pathophysiology of Sturge-Weber syndrome. J Child Neurol. 2003;18(8):509-516. doi:10.1177/088307380 30180080701.
Maiuri F, Gangemi M, Iaconetta G, Maiuri L. Sturge-Weber disease without facial nevus. J Neurosurg Sci. 1989;33(2):215-218. http://www.ncbi.nlm.nih.gov/pubmed/2795196.
Shirley MD, Tang H, Gallione CJ, et al. Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ. N Engl J Med. 2013;368:1971-1979. doi:10.1056/NEJMoa1213507.
Comi AM, Hunt P, Vawter MP, Pardo CA, Becker KG, Pevsner J. Increased Fibronectin Expression in Sturge-Weber Syndrome Fibroblasts and Brain Tissue. Pediatr Res. 2003;53(5):762-769. http://dx.doi.org/10.1203/01.PDR.0000058921.54071.19.
Rhoten RL, Comair YG, Shedid D, Chyatte D, Simonson MS. Specific repression of the preproendothelin-1 gene in intracranial arteriovenous malformations. J Neurosurg. 1997;86(1):101-108. doi:10.3171/jns.1997.86.1.0101.
Lee JS, Asano E, Muzik O, et al. Sturge-Weber syndrome: correlation between clinical course and FDG PET findings. Neurology. 2001;57(2):189-195. doi:10.1212/
WNL.57.2.189.
Piram M, Lorette G, Sirinelli D, Herbreteau D, Giraudeau B, Maruani A. Sturge-Weber syndrome in patients with facial port-wine stain. Pediatr Dermatol. 2012;29(1):32-37. doi:10.1111/j.1525-1470.2011.01485.x.
AF P, AB H, MB D, J L. Encephalotrigeminal angiomatosis (sturge-weber disease): Clinical study of thirty-five cases. J Am Med Assoc. 1958;167(18):2169-2176. doi:10.1001/jama.1958.02990350007002.
Foundation TSW. Sturge-Weber Syndrome Fact Sheet.; 2014. http://www.sturge-weber.es/gallery/smithsolve_swf_fact_sheet_071614_v3.pdf.
Roach ES. Neurocutaneous Syndromes. Pediatr Clin North Am. 1992;39(4):591-620. doi:http://dx.doi.org/10.1016/S0031-3955(16)38367-5.
Sudarsanam A, Ardern-Holmes SL. Sturge - Weber syndrome: from the past to the present. Eur J Paediatr Neurol. 2014;18(3):257-266. doi:10.1016/j.ejpn.2013.10.003.
Simonati A, Colamaria V, Bricolo A, Bernardina BD, Rizzuto N. Microgyria associated with Sturge-Weber angiomatosis. Child’s Nerv Syst. 1994;10(6):392-395. doi:10.1007/BF00335129.
Prayson RA, Grewal ID, McMahon JT, Barna BP, Estes ML. Leukocyte adhesion molecules and x-ray energy dispersive spectroscopy in Sturge-Weber disease. Pediatr Neurol. 2017;15(4):332-336. doi:10.1016/S0887-8994(96)00176-2.
Di Trapani G, Di Rocco C, Abbamondi AL, Caldarelli M, Pocchiari M. Light microscopy and ultrastructural studies of Sturge-Weber disease. Pediatr Neurosurg. 1982;9(1):23-36.
Mitsuhashi Y, Odermatt BF, Schneider B V, Schnyder UW. Immunohistological Evaluation of Endothelial Markers and Basement Membrane Components in Port-Wine Stains. Dermatology. 1988;176(5):243-250. http://www.karger.com/DOI/10.1159/000248712.
Osborn AG, Digre KB. Imaging in Neurology E-Book. Elsevier Health Sciences; 2016. https://books.google.com.co/books?id=DNgEDAAAQBAJ.
Klar N, Cohen B, Lin DDM. Neurocutaneous syndromes. Handb Clin Neurol. 2016;135:565-589. doi:10.1016/B978-0-444-53485-9.00027-1.
Cakirer S, Yagmurlu B, Savas MR. Sturge‐weber syndrome: diffusion magnetic resonance imaging and proton magnetic resonance spectroscopy findings. Acta radiol. 2005;46(4):407-410. doi:10.1080/02841850510021274.
Fukuyama Y, Tsuchiya S. A study on Sturge-Weber syndrome. Report of a case associated with infantile spasms and electroencephalographic evolution in five cases. Eur Neurol. 1979;18(3):194-204.
Kossoff EH, Bachur CD, Quain AM, Ewen JB, Comi AM. EEG evolution in Sturge-Weber syndrome. Epilepsy Res.2014;108(4):816-819. doi:10.1016/j.eplepsyres.2014.01.023.
Comi A. Current Therapeutic Options in Sturge-Weber Syndrome. Semin Pediatr Neurol. 2015;22(4):295-301. doi:10.1016/j.spen.2015.10.005.
Kossoff EH, Ferenc L, Comi AM. An infantile-onset, severe, yet sporadic seizure pattern is common in Sturge-Weber syndrome. Epilepsia. 2009;50(9):2154-2157. doi:10.1111/j.1528-1167.2009.02072.x.
Ewen JB, Comi AM, Kossoff EH. Myoclonic-astatic epilepsy in a child with Sturge-Weber syndrome. Pediatr Neurol. 2007;36(2):115-117. doi:10.1016/j.pediatrneurol.
2006.08.006.
Maria BL, Neufeld JA, Rosainz LC, et al. Central nervous system structure and function in Sturge-Weber syndrome: evidence of neurologic and radiologic progression. J Child Neurol. 1998;13(12):606-618. doi:10.1177/088307389801301204.
Udani V, Pujar S, Munot P, Maheshwari S, Mehta N. Natural history and magnetic resonance imaging follow-up in 9 Sturge-Weber Syndrome patients and clinical correlation. J Child Neurol. 2007;22(4):479-483. doi:22/4/479[pii]10.1177/0883073807300526.
Bosnyák E, Behen ME, Guy WC, Asano E, Chugani HT, Juhász C. Predictors of Cognitive Functions in Children With Sturge–Weber Syndrome: A Longitudinal Study. Pediatr Neurol. 2016;61:38-45. doi:10.1016/j.pediatrneurol.2016.05.012.
Comi AM. Sturge-Weber syndrome. Handb Clin Neurol. 2015;132:157-168. doi:10.1016/B978-0-444-62702-5.00011-1.
Pilli VK, Behen ME, Hu J, et al. Clinical and metabolic correlatesof cerebral calcifications in Sturge-Weber syndrome. Dev Med Child Neurol. April 2017. doi:10.1111/dmcn.13433.
Comi AM. Update on Sturge-Weber syndrome: diagnosis, treatment, quantitative measures, and controversies. Lymphat Res Biol. 2007;5(4):257-264. doi:10.1089/lrb.2007.1016.
Ch’ng S, Tan ST. Facial port-wine stains - clinical stratification and risks of neuro-ocular involvement. J Plast Reconstr Aesthet Surg. 2008;61(8):889-893. doi:10.1016/j. bjps.2007.05.011.
Comi a M. Pathophysiology of Sturge-Weber syndrome. J Child Neurol. 2003;18(8):509-516. doi:10.1177/088307380 30180080701.
Maiuri F, Gangemi M, Iaconetta G, Maiuri L. Sturge-Weber disease without facial nevus. J Neurosurg Sci. 1989;33(2):215-218. http://www.ncbi.nlm.nih.gov/pubmed/2795196.
Shirley MD, Tang H, Gallione CJ, et al. Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ. N Engl J Med. 2013;368:1971-1979. doi:10.1056/NEJMoa1213507.
Comi AM, Hunt P, Vawter MP, Pardo CA, Becker KG, Pevsner J. Increased Fibronectin Expression in Sturge-Weber Syndrome Fibroblasts and Brain Tissue. Pediatr Res. 2003;53(5):762-769. http://dx.doi.org/10.1203/01.PDR.0000058921.54071.19.
Rhoten RL, Comair YG, Shedid D, Chyatte D, Simonson MS. Specific repression of the preproendothelin-1 gene in intracranial arteriovenous malformations. J Neurosurg. 1997;86(1):101-108. doi:10.3171/jns.1997.86.1.0101.
Lee JS, Asano E, Muzik O, et al. Sturge-Weber syndrome: correlation between clinical course and FDG PET findings. Neurology. 2001;57(2):189-195. doi:10.1212/
WNL.57.2.189.
Piram M, Lorette G, Sirinelli D, Herbreteau D, Giraudeau B, Maruani A. Sturge-Weber syndrome in patients with facial port-wine stain. Pediatr Dermatol. 2012;29(1):32-37. doi:10.1111/j.1525-1470.2011.01485.x.
AF P, AB H, MB D, J L. Encephalotrigeminal angiomatosis (sturge-weber disease): Clinical study of thirty-five cases. J Am Med Assoc. 1958;167(18):2169-2176. doi:10.1001/jama.1958.02990350007002.
Foundation TSW. Sturge-Weber Syndrome Fact Sheet.; 2014. http://www.sturge-weber.es/gallery/smithsolve_swf_fact_sheet_071614_v3.pdf.
Roach ES. Neurocutaneous Syndromes. Pediatr Clin North Am. 1992;39(4):591-620. doi:http://dx.doi.org/10.1016/S0031-3955(16)38367-5.
Sudarsanam A, Ardern-Holmes SL. Sturge - Weber syndrome: from the past to the present. Eur J Paediatr Neurol. 2014;18(3):257-266. doi:10.1016/j.ejpn.2013.10.003.
Simonati A, Colamaria V, Bricolo A, Bernardina BD, Rizzuto N. Microgyria associated with Sturge-Weber angiomatosis. Child’s Nerv Syst. 1994;10(6):392-395. doi:10.1007/BF00335129.
Prayson RA, Grewal ID, McMahon JT, Barna BP, Estes ML. Leukocyte adhesion molecules and x-ray energy dispersive spectroscopy in Sturge-Weber disease. Pediatr Neurol. 2017;15(4):332-336. doi:10.1016/S0887-8994(96)00176-2.
Di Trapani G, Di Rocco C, Abbamondi AL, Caldarelli M, Pocchiari M. Light microscopy and ultrastructural studies of Sturge-Weber disease. Pediatr Neurosurg. 1982;9(1):23-36.
Mitsuhashi Y, Odermatt BF, Schneider B V, Schnyder UW. Immunohistological Evaluation of Endothelial Markers and Basement Membrane Components in Port-Wine Stains. Dermatology. 1988;176(5):243-250. http://www.karger.com/DOI/10.1159/000248712.
Osborn AG, Digre KB. Imaging in Neurology E-Book. Elsevier Health Sciences; 2016. https://books.google.com.co/books?id=DNgEDAAAQBAJ.
Klar N, Cohen B, Lin DDM. Neurocutaneous syndromes. Handb Clin Neurol. 2016;135:565-589. doi:10.1016/B978-0-444-53485-9.00027-1.
Cakirer S, Yagmurlu B, Savas MR. Sturge‐weber syndrome: diffusion magnetic resonance imaging and proton magnetic resonance spectroscopy findings. Acta radiol. 2005;46(4):407-410. doi:10.1080/02841850510021274.
Fukuyama Y, Tsuchiya S. A study on Sturge-Weber syndrome. Report of a case associated with infantile spasms and electroencephalographic evolution in five cases. Eur Neurol. 1979;18(3):194-204.
Kossoff EH, Bachur CD, Quain AM, Ewen JB, Comi AM. EEG evolution in Sturge-Weber syndrome. Epilepsy Res.2014;108(4):816-819. doi:10.1016/j.eplepsyres.2014.01.023.
Comi A. Current Therapeutic Options in Sturge-Weber Syndrome. Semin Pediatr Neurol. 2015;22(4):295-301. doi:10.1016/j.spen.2015.10.005.
Kossoff EH, Ferenc L, Comi AM. An infantile-onset, severe, yet sporadic seizure pattern is common in Sturge-Weber syndrome. Epilepsia. 2009;50(9):2154-2157. doi:10.1111/j.1528-1167.2009.02072.x.
Ewen JB, Comi AM, Kossoff EH. Myoclonic-astatic epilepsy in a child with Sturge-Weber syndrome. Pediatr Neurol. 2007;36(2):115-117. doi:10.1016/j.pediatrneurol.
2006.08.006.
Maria BL, Neufeld JA, Rosainz LC, et al. Central nervous system structure and function in Sturge-Weber syndrome: evidence of neurologic and radiologic progression. J Child Neurol. 1998;13(12):606-618. doi:10.1177/088307389801301204.
Udani V, Pujar S, Munot P, Maheshwari S, Mehta N. Natural history and magnetic resonance imaging follow-up in 9 Sturge-Weber Syndrome patients and clinical correlation. J Child Neurol. 2007;22(4):479-483. doi:22/4/479[pii]10.1177/0883073807300526.
Bosnyák E, Behen ME, Guy WC, Asano E, Chugani HT, Juhász C. Predictors of Cognitive Functions in Children With Sturge–Weber Syndrome: A Longitudinal Study. Pediatr Neurol. 2016;61:38-45. doi:10.1016/j.pediatrneurol.2016.05.012.
Comi AM. Sturge-Weber syndrome. Handb Clin Neurol. 2015;132:157-168. doi:10.1016/B978-0-444-62702-5.00011-1.
Pilli VK, Behen ME, Hu J, et al. Clinical and metabolic correlatesof cerebral calcifications in Sturge-Weber syndrome. Dev Med Child Neurol. April 2017. doi:10.1111/dmcn.13433.
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Published
2018-06-07
How to Cite
Arango, J. C., & Carmona Villada, H. (2018). Síndrome de Sturge Weber: Una revisión. Español, 24(3), 225–230. https://doi.org/10.51437/nj.v24i3.22
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