Síndrome de Sturge-Weber. Revisão de literatura sobre um caso
Palavras-chave:
síndrome de Sturge-Weber, angioma, hamartoblastoseResumo
Introdução: a síndrome de Sturge-Weber (SSW) é reconhecida entre as hamartoblastose, cujo diagnóstico é tratamento incomum e complexo.
Objetivo: socializar a experiência no atendimento de um paciente pediátrico com síndrome de Sturge-Weber no Hospital Pediátrico "General Pedro Agustín Pérez" em Guantánamo.
Método: foi apresentado um paciente pré-escolar, sem histórico familiar de interesse. Um mês após o nascimento, ele foi submetido a uma cirurgia de glaucoma congênito. Durante o primeiro ano de vida, apresentou retardo no desenvolvimento psicomotor e movimentos involuntários considerados convulsões tônico-clônicas. A literatura foi revisada para transmitir à comunidade médica, em particular aos estudantes de medicina e clínicos gerais, informações para obter um diagnóstico e acompanhamento adequado dessa condição.
Resultados: de acordo com as manifestações clínicas, o exame físico por meio do método clínico e os resultados dos exames complementares, foi proposto o diagnóstico de síndrome neurocutânea, em particular um SSW. O tratamento com diazepam foi aplicado e, quando a crise persistiu, fenitoína. A primeira classificação das síndromes neurocutâneas foi realizada por Jan Van der Hoeve, que cunhou o termo facomatose. É um distúrbio neurológico congênito, não herdado, embora haja casos familiares descritos, incomum, mas frequente em comparação com outras síndromes neurocutâneas. É estimada uma incidência de 5 x 100.000 nascidos vivos. Afeta todos os grupos étnicos e ambos os sexos.
Conclusões: nem sempre existe relação entre a gravidade das manifestações cutâneas, neurológicas e oculares da SSW com distúrbios cerebrais. O exame físico é importante para estabelecer o diagnóstico oportuno e evitar futuras sequelas e complicações.
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Referências
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2. Ishikawa H, Li Y, Niwa A, Matsuura K, Maeda M, Tomimoto H. A case of 55-year-old man with first-ever generalized seizure diagnosed with Sturge Weber syndrome type III by characteristic MRI findings. Rinsho Shink Clin Neur [en línea]. 2016 [citado 20 Ene 2019]; 57(5): 214-219. DOI: http://dx.doi.org/10.5692/clinicalneurol.cn-001006
3. Comi A. Current Therapeutic Options in Sturge Weber Syndrome. Sem Pedc Neurol [en línea]. 2015 [citado 20 Ene 2019]; 22(4):295-301. DOI: 10.1016/j.spen.2015.10.005
4. Sudarsanam A, Ardern HS. Sturge Weber syndrome: from the past to the present. Eur J Paed Neurol [en línea]. 2014 [citado 20 Ene 2019]; 18(3):257-66. DOI: http://dx.doi.org/10.1016/j.ejpn.2013.10.003
5. Thomas AC, Zeng Z, Riviere JB, O’Shaughnessy R, Al-Olabi L, St-Onge J, Atherton, D.J.; Aubert H, BagazgoitiaL, Barbarot S, et al. Mosaic activating mutations in gna11 and gnaq are associated with phakomatosis pigmento vascularis and extensive dermal melanocytosis. J Inv Dermatol [en línea]. 2016 [citado 20 Ene 2019]; 136:770-778. DOI: http://dx.doi.org/.org/10.1016/j.jid.2015.11.027
6. Huang L, Couto JA, Pinto A, Alexandrescu S, Madsen JR, Greene A K, et al. Somatic GNAQ mutation is enriched in brain endothelial cells in Sturge Weber Syndrome. Ped Neurol [en línea]. 2017 [citado 20 Ene 2019]; 67:59-63. DOI: http://dx.doi.org/10.1016/j.pediatrneurol.2016.10.010
7. Martins L, Giovani PA, Reboucas PD, Brasil DM, Haiter NF, Coletta RD, et al. (2017). Computational analysis for GNAQ mutations: new insights on the molecular etiology of Sturge Weber syndrome. J Mol Graph Model [en línea]. 2016 [citado 20 Ene 2019]; 76:429-440. DOI: http://dx.doi.org/10.1016/j.jmgm. 2017.07.011
8. Zallmann M, Leventer RJ, Mackay MT, Ditchfield M, Bekhor PS, Su JC. Screening for Sturge Weber syndrome: A state of the art review. Ped Dermatol [en línea]. 2018 [citado 20 Ene 2019]; 35(1):30-42. DOI: http://dx.doi.org/10.1111/pde.13304
9. Limura Y, Sugano H, Nakajima M, Higo T, Suzuki H, Nakanishi H, Arai H. Analysis of epileptic discharges from implanted subdural electrodes in patients with Sturge Weber Syndrome. PloS One [en línea]. 2016 [citado 20 Ene 2019]; 11(4):e0152992. DOI: http://dx.doi.org/.org/10.1371/journal.pone.0152992
10. Juhasz C, Hu J, Xuan Y, Chugani HT. Imaging increased glutamate in children with Sturge Weber syndrome. Epilepsy Res [en línea]. 2016 [citado 20 Ene 2019]; 2(1):71-80. DOI: 10.1016/j.eplepsyres.2016.02.010
11. Maraña PAI, Ruiz FR, Puertas MV, Dominguez CJ, Carreras SI, Duat RA, et al. Analysis of Sturge Weber syndrome: A retrospective study of multiple associated variables. Neurología [en línea]. 2017 Jul-Ago [citado 20 Ene 2019]; 32(6): 363-370. DOI: 10.1016/j.nrl.2015.12.012
12. Zhang J, Ma J, Du X, Wu D, Ai H, Bai J. Clinical and genetic investigation of a multigenerational chinese family afflicted with Von Hippel Lindau disease. Chin Med J (Engl) [en línea]. 2015 [citado 20 Ene 2019]; 128(1):32-8. DOI: 10.4103/0366-6999.147802
13. Dymerska M, Kirkorian AY, Offermann EA, Lin DD, Comi A. M., Cohen B. A. Size of Facial Port-Wine Birthmark May Predict Neurologic Outcome in Sturge Weber Syndrome. J Ped [en línea]. 2017 [citado 20 Ene 2019]; 188:205-209. DOI: 10.1016/j.jpeds.2017.05.053
14. Poliak N, Rainey A. Concurrent Sturge Weber syndrome, facial infantile hemangioma, and cutis marmorata telangiectatica congenita. Cutis [en línea]. 2017 [citado 20 Ene 2019]; 100(4):252-254. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/29136059
15. Bosnyak E, Behen ME, Guy WC, Asano E, Chugani HT, Juhasz C. Predictors of Cognitive Functions in Children With Sturge Weber Syndrome: A Longitudinal Study. Ped Neurol [en línea]. 2016 [citado 20 Ene 2019]; 61:38-45. DOI: 10.1016/j.pediatrneurol.2016.05.012
16. Nguyen V, Hochman M, Mihm MC, Stuart NJ, Tan W. The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation. Int J Mol Sci [en línea]. 2019 [citado 20 Ene 2019]; 20(9):2243-2260. DOI: 10.3390/ijms20092243
17. Kavanaugh B, Sreenivasan A, Bachu, C, Papazoglou A, Comi A, Zabel TA. Intellectual and adaptive functioning in Sturge Weber Syndrome. Child Neuropsyc [en línea]. 2016 [citado 20 Ene 2019]; 22(6):635-648. DOI: 10.1080/09297049.2015.1028349
18. Balkuv E, Isik N, Canturk IA, Isik N, Basaran R. Sturge weber syndrome: a case report with persistent headache. Pan Afr Med J [en línea]. 2014 [citado 20 Ene 2019]; 18:87-91. DOI: 10.11604/pamj.2014.18.87.3346
19. Gittins, Steel D, Brunklaus A, Newsom DI, Hawkins C, Aylett SE. Autism spectrum disorder, social communication difficulties, and developmental comorbidities in Sturge Weber syndrome. Epilepsy Behav [en línea]. 2018 [citado 20 Ene 2019]; 88:1-4. DOI: 10.1016/j.yebeh.2018.08.006
20. Koenraads Y, Egmond EMB, Boer JH, Imhof SM, Braun KPJ, Porro GL. Visual outcome in Sturge Weber syndrome. Acta Ophthalmol [en línea]. 2016 [citado 20 Ene 2019]; 94(7):638-645. DOI: 10.1111/aos.13074
21. Whitehead MT, Vezina G. Osseous intramedullary signal alteration and enhancement in Sturge Weber syndrome. Neuroradiology [en línea]. 2015 [citado 20 Ene 2019]; 57(4):395-400. DOI: 10.1007/s00234-015-1488-6
22. Zallmann M, Mackay MT, Leventer RJ; Ditchfield, M, Bekhor PS, Su JC. Screening for Sturge Weber syndrome with brain magnetic resonance imaging and electroencephalography in infants. Ped Dermatol [en línea]. 2018 [citado 20 Ene 2019]; 35(1):575-581. DOI: 10.1111/pde.13304
23. Offermann EA, Sreenivasan A, DeJong MR, Lin DDM, McCulloch CE, Chung MG, et al. Reliability and clinical correlation of transcranial doppler ultrasound in Sturge Weber Syndrome. Ped Neurol [en línea]. 2017 [citado 20 Ene 2019]; 74:15-23.e5. DOI: 10.1016/j.pediatrneurol.2017.04.026
24. Uchiyama Y, Nakashima M, Watanabe S, Miyajima M, Taguri M, Miyatake S, et al. Ultrasensitive doppler digital PCR for detecting a low prevalence somatic GNAQ mutation in Sturge Weber syndrome. Scient Rep [en línea]. 2016 [citado 20 Ene 2019]; 6:22985. DOI: 10.1038/srep22985
25. Kaplan EH, Kossoff EH, Bachur CD, Gholston M, Hahn J, Widlus M, et al. Anticonvulsant efficacy in Sturge Weber Syndrome. Ped Neurol [en línea]. 2016 [citado 20 Ene 2019]; 58:31-36. DOI: 10.1016/j.pediatrneurol.2015.10.015
2. Ishikawa H, Li Y, Niwa A, Matsuura K, Maeda M, Tomimoto H. A case of 55-year-old man with first-ever generalized seizure diagnosed with Sturge Weber syndrome type III by characteristic MRI findings. Rinsho Shink Clin Neur [en línea]. 2016 [citado 20 Ene 2019]; 57(5): 214-219. DOI: http://dx.doi.org/10.5692/clinicalneurol.cn-001006
3. Comi A. Current Therapeutic Options in Sturge Weber Syndrome. Sem Pedc Neurol [en línea]. 2015 [citado 20 Ene 2019]; 22(4):295-301. DOI: 10.1016/j.spen.2015.10.005
4. Sudarsanam A, Ardern HS. Sturge Weber syndrome: from the past to the present. Eur J Paed Neurol [en línea]. 2014 [citado 20 Ene 2019]; 18(3):257-66. DOI: http://dx.doi.org/10.1016/j.ejpn.2013.10.003
5. Thomas AC, Zeng Z, Riviere JB, O’Shaughnessy R, Al-Olabi L, St-Onge J, Atherton, D.J.; Aubert H, BagazgoitiaL, Barbarot S, et al. Mosaic activating mutations in gna11 and gnaq are associated with phakomatosis pigmento vascularis and extensive dermal melanocytosis. J Inv Dermatol [en línea]. 2016 [citado 20 Ene 2019]; 136:770-778. DOI: http://dx.doi.org/.org/10.1016/j.jid.2015.11.027
6. Huang L, Couto JA, Pinto A, Alexandrescu S, Madsen JR, Greene A K, et al. Somatic GNAQ mutation is enriched in brain endothelial cells in Sturge Weber Syndrome. Ped Neurol [en línea]. 2017 [citado 20 Ene 2019]; 67:59-63. DOI: http://dx.doi.org/10.1016/j.pediatrneurol.2016.10.010
7. Martins L, Giovani PA, Reboucas PD, Brasil DM, Haiter NF, Coletta RD, et al. (2017). Computational analysis for GNAQ mutations: new insights on the molecular etiology of Sturge Weber syndrome. J Mol Graph Model [en línea]. 2016 [citado 20 Ene 2019]; 76:429-440. DOI: http://dx.doi.org/10.1016/j.jmgm. 2017.07.011
8. Zallmann M, Leventer RJ, Mackay MT, Ditchfield M, Bekhor PS, Su JC. Screening for Sturge Weber syndrome: A state of the art review. Ped Dermatol [en línea]. 2018 [citado 20 Ene 2019]; 35(1):30-42. DOI: http://dx.doi.org/10.1111/pde.13304
9. Limura Y, Sugano H, Nakajima M, Higo T, Suzuki H, Nakanishi H, Arai H. Analysis of epileptic discharges from implanted subdural electrodes in patients with Sturge Weber Syndrome. PloS One [en línea]. 2016 [citado 20 Ene 2019]; 11(4):e0152992. DOI: http://dx.doi.org/.org/10.1371/journal.pone.0152992
10. Juhasz C, Hu J, Xuan Y, Chugani HT. Imaging increased glutamate in children with Sturge Weber syndrome. Epilepsy Res [en línea]. 2016 [citado 20 Ene 2019]; 2(1):71-80. DOI: 10.1016/j.eplepsyres.2016.02.010
11. Maraña PAI, Ruiz FR, Puertas MV, Dominguez CJ, Carreras SI, Duat RA, et al. Analysis of Sturge Weber syndrome: A retrospective study of multiple associated variables. Neurología [en línea]. 2017 Jul-Ago [citado 20 Ene 2019]; 32(6): 363-370. DOI: 10.1016/j.nrl.2015.12.012
12. Zhang J, Ma J, Du X, Wu D, Ai H, Bai J. Clinical and genetic investigation of a multigenerational chinese family afflicted with Von Hippel Lindau disease. Chin Med J (Engl) [en línea]. 2015 [citado 20 Ene 2019]; 128(1):32-8. DOI: 10.4103/0366-6999.147802
13. Dymerska M, Kirkorian AY, Offermann EA, Lin DD, Comi A. M., Cohen B. A. Size of Facial Port-Wine Birthmark May Predict Neurologic Outcome in Sturge Weber Syndrome. J Ped [en línea]. 2017 [citado 20 Ene 2019]; 188:205-209. DOI: 10.1016/j.jpeds.2017.05.053
14. Poliak N, Rainey A. Concurrent Sturge Weber syndrome, facial infantile hemangioma, and cutis marmorata telangiectatica congenita. Cutis [en línea]. 2017 [citado 20 Ene 2019]; 100(4):252-254. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/29136059
15. Bosnyak E, Behen ME, Guy WC, Asano E, Chugani HT, Juhasz C. Predictors of Cognitive Functions in Children With Sturge Weber Syndrome: A Longitudinal Study. Ped Neurol [en línea]. 2016 [citado 20 Ene 2019]; 61:38-45. DOI: 10.1016/j.pediatrneurol.2016.05.012
16. Nguyen V, Hochman M, Mihm MC, Stuart NJ, Tan W. The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation. Int J Mol Sci [en línea]. 2019 [citado 20 Ene 2019]; 20(9):2243-2260. DOI: 10.3390/ijms20092243
17. Kavanaugh B, Sreenivasan A, Bachu, C, Papazoglou A, Comi A, Zabel TA. Intellectual and adaptive functioning in Sturge Weber Syndrome. Child Neuropsyc [en línea]. 2016 [citado 20 Ene 2019]; 22(6):635-648. DOI: 10.1080/09297049.2015.1028349
18. Balkuv E, Isik N, Canturk IA, Isik N, Basaran R. Sturge weber syndrome: a case report with persistent headache. Pan Afr Med J [en línea]. 2014 [citado 20 Ene 2019]; 18:87-91. DOI: 10.11604/pamj.2014.18.87.3346
19. Gittins, Steel D, Brunklaus A, Newsom DI, Hawkins C, Aylett SE. Autism spectrum disorder, social communication difficulties, and developmental comorbidities in Sturge Weber syndrome. Epilepsy Behav [en línea]. 2018 [citado 20 Ene 2019]; 88:1-4. DOI: 10.1016/j.yebeh.2018.08.006
20. Koenraads Y, Egmond EMB, Boer JH, Imhof SM, Braun KPJ, Porro GL. Visual outcome in Sturge Weber syndrome. Acta Ophthalmol [en línea]. 2016 [citado 20 Ene 2019]; 94(7):638-645. DOI: 10.1111/aos.13074
21. Whitehead MT, Vezina G. Osseous intramedullary signal alteration and enhancement in Sturge Weber syndrome. Neuroradiology [en línea]. 2015 [citado 20 Ene 2019]; 57(4):395-400. DOI: 10.1007/s00234-015-1488-6
22. Zallmann M, Mackay MT, Leventer RJ; Ditchfield, M, Bekhor PS, Su JC. Screening for Sturge Weber syndrome with brain magnetic resonance imaging and electroencephalography in infants. Ped Dermatol [en línea]. 2018 [citado 20 Ene 2019]; 35(1):575-581. DOI: 10.1111/pde.13304
23. Offermann EA, Sreenivasan A, DeJong MR, Lin DDM, McCulloch CE, Chung MG, et al. Reliability and clinical correlation of transcranial doppler ultrasound in Sturge Weber Syndrome. Ped Neurol [en línea]. 2017 [citado 20 Ene 2019]; 74:15-23.e5. DOI: 10.1016/j.pediatrneurol.2017.04.026
24. Uchiyama Y, Nakashima M, Watanabe S, Miyajima M, Taguri M, Miyatake S, et al. Ultrasensitive doppler digital PCR for detecting a low prevalence somatic GNAQ mutation in Sturge Weber syndrome. Scient Rep [en línea]. 2016 [citado 20 Ene 2019]; 6:22985. DOI: 10.1038/srep22985
25. Kaplan EH, Kossoff EH, Bachur CD, Gholston M, Hahn J, Widlus M, et al. Anticonvulsant efficacy in Sturge Weber Syndrome. Ped Neurol [en línea]. 2016 [citado 20 Ene 2019]; 58:31-36. DOI: 10.1016/j.pediatrneurol.2015.10.015
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2020-02-12
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Cremé-Lambert L, Díaz-Estévez H, Lamas-Ávila M. Síndrome de Sturge-Weber. Revisão de literatura sobre um caso. Rev Inf Cient [Internet]. 12º de fevereiro de 2020 [citado 22º de abril de 2025];99(1):89-101. Disponível em: https://revinfcientifica.sld.cu/index.php/ric/article/view/2747
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