Neuroradiology Methods in Sturge-Weber Syndrome: Integrative Review




Sturge-Weber Syndrome; Diagnostic Imaging; Cerebral Venous Angioma; Neuroimaging.


Sturge-Weber Syndrome is a phacomatosis with incidence of 1:20,000-50,000 live births and is related to the presence of facial Port Wine Stain birthmark. Vascular changes generated by a mutation of the GNAQ gene cause cutaneous, cerebral and ocular involvement. The main neurologic symptom is epilepsy, which usually appears before 2 years of age. Seizures may be of difficult control and are associated with hemiparesis, intellectual impairment and behavioral changes, mainly when they start before 6 months of age. This is an integrative review with the objective of analyze scientific literature on neuroradiological methods indicated to diagnose leptomeningeal angioma in children with risk factors for this syndrome. There were selected 34 articles between the ones found at MEDLINE and LILACS databases. From them, it was found that the MRI is still the choice method for initial diagnosis, while the CT has no recommendation at this moment and should be reserved to emergencies. Functional studies are preferable for surgery evaluation and ultrasonographic methods are promising when other methods are not disponible and for pharmacological treatment monitoring.


Alkonyi, B., Chugani, H. T., Muzik, O., Chugani, D. C., Sundaram, S. K., Kupsky, W. J., Batista, C. E., & Juhász, C. (2012). Increased L-[1- 11C] Leucine Uptake in the Leptomeningeal Angioma of Sturge-Weber Syndrome: A PET Study. Journal of Neuroimaging, 22(2), 177–183.

Andica, C., Hagiwara, A., Hori, M., Haruyama, T., Fujita, S., Maekawa, T., Kamagata, K., Yoshida, M. T., Suzuki, M., Sugano, H., Arai, H., & Aoki, S. (2019). Aberrant myelination in patients with Sturge-Weber syndrome analyzed using synthetic quantitative magnetic resonance imaging. Neuroradiology, 61(9), 1055–1066.

Bar, C., Pedespan, J. M., Boccara, O., Garcelon, N., Levy, R., Grévent, D., Boddaert, N., & Nabbout, R. (2020). Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge–Weber syndrome. Developmental Medicine and Child Neurology, 62(2), 227–233.

Botelho, L. L. R., Cunha, C. C. de A., & Macedo, M. (2011). O Método da Revisão Integrativa nos Estudos Organizacionais. Gestão e Sociedade, 5(11), 121–136.

Cagneaux, M., Paoli, V., Blanchard, G., Ville, D., & Guibaud, L. (2013). Pre- and postnatal imaging of early cerebral damage in Sturge-Weber syndrome. Pediatric Radiology, 43(11), 1536–1539.

Catsman-Berrevoets, C. E., Koudijs, S. M., Buijze, M. S. J., de Laat, P. C. J., Pasmans, S. G. M. A., & Dremmen, M. H. G. (2022). Early MRI diagnosis of Sturge Weber Syndrome type 1 in infants. European Journal of Paediatric Neurology, 38, 66–72.

Cremé-Lambert, L., Díaz-Estévez, H., & Lamas-Ávila, M. (2020). Síndrome Sturge-Weber. Revisión de la literatura a propósito de un caso. Revista Información Científica, 99(1), 89-101.

de la Torre, A. J., Luat, A. F., Juhász, C., Ho, M. L., Argersinger, D. P., Cavuoto, K. M., Enriquez-Algeciras, M., Tikkanen, S., North, P., Burkhart, C. N., Chugani, H. T., Ball, K. L., Pinto, A. L., & Loeb, J. A. (2018). A Multidisciplinary Consensus for Clinical Care and Research Needs for Sturge-Weber Syndrome. In Pediatric Neurology, 84, 11–20. Elsevier Inc.

Dymerska, M., Kirkorian, A. Y., Offermann, E. A., Lin, D. D., Comi, A. M., & Cohen, B. A. (2017). Size of Facial Port-Wine Birthmark May Predict Neurologic Outcome in Sturge-Weber Syndrome. The Journal of Pediatrics, 188 ,205-209

Ferraz, A., Morais, S., & Mimoso, G. (2019). Role of the cerebral ultrasound in a case of sturge-weber syndrome. BMJ Case Reports, 12(4), 1-3.

Goto, M., Hagiwara, A., Kato, A., Fujita, S., Hori, M., Kamagata, K., Aoki, S., Abe, O., Sakamoto, H., Sakano, Y., Kyogoku, S., & Daida, H. (2020). Effect of changing the analyzed image contrast on the accuracy of intracranial volume extraction using Brain Extraction Tool 2. Radiological Physics and Technology, 13(1), 76–82.

Higueros, E., Roe, E., & Granell, E., Baselga, E. (2017). Síndrome de Sturge-Weber: revisión. In Actas Dermo-Sifiliograficas. 108 (5), 407–417. Elsevier Doyma.

Jagtap, S., Srinivas, G., Harsha, K. J., Radhakrishnan, N., & Radhakrishnan, A. (2013). Sturge-weber syndrome: Clinical spectrum, disease course, and outcome of 30 patients. Journal of Child Neurology, 28(6), 722–728.

Jiménez-Legido, M., Martínez-de-Azagra-Garde, A., Bernardino-Cuesta, B., Solís-Muñiz, I., Soto-Insuga, V., Cantarín-Extremera, V., García-Salido, A., Duat-Rodríguez, A., García-Peñas, J. J., & Ruíz-Falcó-Rojas, M. L. (2020). Utility of the transcranial doppler in the evaluation and follow-up of children with Sturge-Weber Syndrome. European Journal of Paediatric Neurology, 27, 60–66.

Juhász, C., Hu, J., Xuan, Y., & Chugani, H. T. (2016). Imaging increased glutamate in children with Sturge-Weber syndrome: Association with epilepsy severity. Epilepsy Research, 122, 66–72.

Kasasbeh, A. S., Kalaria, A., Comi, A. M., Lo, W., & Lin, D. D. M. (2020). Atypical Intracerebral Developmental Venous Anomalies in Sturge-Weber Syndrome: A Case Series and Review of Literature. Pediatric Neurology, 104, 54–61.

Kaseka, M. L., Bitton, J. Y., Décarie, J. C., & Major, P. (2016). Predictive Factors for Epilepsy in Pediatric Patients With Sturge–Weber Syndrome. Pediatric Neurology, 64, 52–58.

Morales Querol, M. C., Benítez, E. M. S., Pérez, M. Q. L., Oquendo, J. A. M., Lorenzo, L. R., & Álvarez, T. C. L. (2017). Angiomatosis encefalotrigeminal o síndrome de Sturge-Weber. A propósito de un caso Encephalotrigeminal angiomatosis or Sturge-Weber syndrome. A propos of a case. Rev Méd Electrón [Internet], 39(3), 592-601.

Offermann, E. A., Sreenivasan, A., DeJong, M. R., Lin, D. D. M., McCulloch, C. E., Chung, M. G., Comi, A. M., Ball, K. L., Fisher, B. J., Hammill, A., Juhász, C., Koenig, J., Lawton, M., Lo, W., Marchuk, D., Miles, D., Moses, M., & Wilfong, A. (2017). Reliability and Clinical Correlation of Transcranial Doppler Ultrasound in Sturge-Weber Syndrome. Pediatric Neurology, 74, 15-23.e5.

Pasquini, L., Tortora, D., Manunza, F., Rossi Espagnet, M. C., Figà-Talamanca, L., Morana, G., Occella, C., Rossi, A., & Severino, M. (2019). Asymmetric cavernous sinus enlargement: a novel finding in Sturge–Weber syndrome. Neuroradiology, 61(5), 595–602.

Pilli, V. K., Behen, M. E., Hu, J., Xuan, Y., Janisse, J., Chugani, H. T., & Juhász, C. (2017). Clinical and metabolic correlates of cerebral calcifications in Sturge–Weber syndrome. Developmental Medicine and Child Neurology, 59(9), 952–958.

Pilli, V. K., Chugani, H. T., & Juhász, C. (2017). Enlargement of deep medullary veins during the early clinical course of Sturge-Weber syndrome. Neurology, 88(1),103–105.

Pinto, A. L. R., Ou, Y., Sahin, M., & Grant, P. E. (2018). Quantitative Apparent Diffusion Coefficient Mapping May Predict Seizure Onset in Children With Sturge-Weber Syndrome. Pediatric Neurology, 84, 32–38.

Piram, M., Lorette, G., Sirinelli, D., Herbreteau, D., Giraudeau, B., & Maruani, A. (2012). Sturge-Weber syndrome in patients with facial port-wine stain. Pediatric Dermatology, 29(1), 32–37.

Planche, V., Chassin, O., Leduc, L., Regnier, W., Kelly, A., & Colamarino, R. (2014). Sturge-Weber syndrome with late onset hemiplegic migraine-like attacks and progressive unilateral cerebral atrophy. Cephalalgia, 34(1), 73–77.

Sabeti, S., Ball, K. L., Bhattacharya, S. K., Bitrian, E., Blieden, L. S., Brandt, J. D., Burkhart, C., Chugani, H. T., Falchek, S. J., Jain, B. G., Juhasz, C., Loeb, J. A., Luat, A., Pinto, A., Segal, E., Salvin, J., & Kelly, K. M. (2021). Consensus Statement for the Management and Treatment of Sturge-Weber Syndrome: Neurology, Neuroimaging, and Ophthalmology Recommendations. Pediatric Neurology, 121, 59–66.

Sarti, M., Blanco, M., Cano, E., Cordero, G., & Lucero, M. (2019). Síndrome de Sturge Weber (SSW) Experiencia en cuatro pacientes con episodios de deficit motor transitorio (DM). Ludovica Pediátrica, 22(01), 8-13.

Steele, L., & Shipman, A. R. (2021). Neuroimaging in infants and children in select neurocutaneous disorders. In Clinical and Experimental Dermatology, 46(3), 438–443.

Sudarsanam, A., & Ardern-Holmes, S. L. (2014). Sturge-Weber syndrome: From the past to the present. In European Journal of Paediatric Neurology, 18(3), 257–266. W.B. Saunders Ltd.

Vedmurthy, P., Pinto, A. L. R., Lin, D. D. M., Comi, A. M., & Ou, Y. (2022). Study protocol: retrospectively mining multisite clinical data to presymptomatically predict seizure onset for individual patients with Sturge-Weber. BMJ Open, 12(2), 1-11.

Velásquez-Gallego, C., Felipe Ceballos-Ruiz, J., Ruiz-Jaramillo, N., & Villamizar-Londoño, C. (2019). Sturge-Weber Syndrome: A Case Report And Literature Review. Revista Ecuatoriana de Neurología, 28(2), 105-114.

Vézina, G. (2015). Neuroimaging of phakomatoses: overview and advances. Pediatric Radiology, 45(Suppl 3), 433–442.

Warne, R. R., Carney, O. M., Wang, G., Bhattacharya, D., Chong, W. K., Aylett, S. E., & Mankad, K. (2018). The bone does not predict the brain in sturge-weber syndrome. American Journal of Neuroradiology, 39(8), 1550–1554.

Zallmann, M., Leventer, R. J., Mackay, M. T., Ditchfield, M., Bekhor, P. S., & Su, J. C. (2018). Screening for Sturge-Weber syndrome: A state-of-the-art review. Pediatric Dermatology, 35(1), 30–42.

Zallmann, M., Mackay, M. T., Leventer, R. J., Ditchfield, M., Bekhor, P. S., & Su, J. C. (2018). Retrospective review of screening for Sturge-Weber syndrome with brain magnetic resonance imaging and electroencephalography in infants with high-risk port-wine stains. Pediatric Dermatology, 35(5), 575–581.



How to Cite

SANTOS, I. G. M. .; ABRITTA, R. T. R. . Neuroradiology Methods in Sturge-Weber Syndrome: Integrative Review. Research, Society and Development, [S. l.], v. 12, n. 4, p. e14212441119, 2023. DOI: 10.33448/rsd-v12i4.41119. Disponível em: Acesso em: 6 jun. 2023.



Health Sciences