以反复癫痫发病为特点的Sturge-Weber综合征1例
A Case of Sturge-Weber SyndromeCharacterized by Recurrent Seizures
DOI: 10.12677/acm.2025.1582386, PDF,   
作者: 郝 杰：山东大学齐鲁医学院，山东 济南；山东省立医院神经内科，山东 济南；山东省聊城市退役军人医院神经内科，山东 聊城；郭守刚*：山东大学齐鲁医学院，山东 济南；山东省立医院神经内科，山东 济南；范 焱：山东省聊城市人民医院神经内科，山东 聊城
关键词: Sturge-Weber综合征；脑梗死；癫痫发作；Sturge-Weber Syndrome； Cerebral Infarction； Epileptic Seizure
摘要: 病史摘要：中年男性，33岁，发作性意识不清，双眼上翻3天。症状体征：神志清，精神欠佳，言语清晰。双瞳孔等大同圆，直径3 mm，对光反射灵敏，双眼球各方向运动灵活。右侧鼻唇沟略浅，伸舌右偏，左侧肢体肌力4+级，右侧肢体肌力5级，肌张力正常，腱反射(++)，双侧Babinski sign (−)，感觉、共济查体正常。颈软，脑膜刺激征阴性。诊断方法：结合患者典型的皮肤表现、神经系统症状和脑电图结果，临床诊断Sturge-Weber综合征。治疗方法：予奥卡西平、丙戊酸钠抗癫痫治疗。临床转归：患者的偏瘫症状在1个月时完全缓解，随访1年未再出现癫痫发作。
Abstract: Medical history summary: A 33-year-old middle-aged male presented with episodes of loss of consciousness and upward deviation of both eyes for 3 days. Symptoms and signs: The patient was conscious but in poor spirits, with clear speech. Both pupils were equal in size and round, measuring 3mm in diameter, with sensitive light reflexes. Both eyes moved freely in all directions. The right nasolabial fold was slightly shallow, and the tongue deviated to the right. The muscle strength of the left limb was 4+ grade, and that of the right limb was 5 grade. Muscle tone was normal, and tendon reflexes (++), bilateral Babinski signs (−). Sensory and coordination examinations were normal. The neck was soft, and meningeal irritation signs were negative. Diagnostic methods: Based on the patient’s typical skin manifestations, neurological symptoms, and electroencephalogram results, Sturge-Weber syndrome was clinically diagnosed. Treatment methods: Antiepileptic treatment with oxcarbazepine and sodium valproate was administered. Clinical outcome: The patient’s hemiplegia symptoms completely resolved within 1 month, and no further epileptic seizures occurred during a 1-year follow-up.
文章引用：郝杰, 郭守刚, 范焱. 以反复癫痫发病为特点的Sturge-Weber综合征1例[J]. 临床医学进展, 2025, 15(8): 1463-1471. https://doi.org/10.12677/acm.2025.1582386

参考文献

[1] Burrows, P.E., Shanley, S., Wallace, A., et al. (2013) Somatic Mutation of GNAQ in Sturge-Weber Syndrome. The New England Journal of Medicine, 368, 1971-1979. [Google Scholar] [CrossRef] 
[2] Shirley, M.D., Puri, A., Uebelhoer, M., et al. (2019) The Pathogenesis of Sturge-Weber Syndrome: New Insights into A Rare Neurocutaneous Disorder. Frontiers in Neurology, 10, Article ID: 1091.
[3] Rahbar, R., Frieden, I.J., Baskin, M.N., et al. (2011) Visceral Manifestations of the Sturge-Weber Syndrome. The Journal of Pediatrics, 159, 487-492.
[4] Yeom, S.E. and Comi, A.M. (2022) Updates on Sturge-Weber Syndrome. Stroke, 53, 3769-3779. [Google Scholar] [CrossRef] 
[5] Puri, A., Shirley, M.D., Uebelhoer, M., et al. (2017) Pathophysiology of Sturge-Weber Syndrome: Current Concepts and Future Directions. Developmental Neuroscience, 39, 203-213.
[6] Sullivan, T.J. and Northrup, H. (2018) Sturge-Weber Syndrome: Clinical Features, Pathophysiology, and Management. Orphanet Journal of Rare Diseases, 13, 228-229.
[7] Hesselink, J.M. and Frieden, I.J. (2018) Dermatologic Findings in Sturge-Weber Syndrome. Journal of the American Academy of Dermatology, 78, 253-260.
[8] Zuker, R.M., Waner, M. and Metzler, M.L. (2011) The Sturge-Weber Syndrome: A Spectrum of Disease. Plastic and Reconstructive Surgery, 127, 1099-1108.
[9] Ball, W.S. and Maria, B.L. (2013) Stroke-Like Episodes in Sturge-Weber Syndrome: Pathophysiology, Clinical Course, and Management. Journal of Child Neurology, 28, 1154-1161.
[10] Juhász, C., Szabó, A., Kálmán, J., et al. (2015) Epilepsy in Sturge-Weber Syndrome: A Long-Term Follow-Up Study. Epilepsia, 56, 1607-1615.
[11] Muzykewicz, D.A., Maria, B.L., Glauser, T.A., et al. (2017) Cognitive Outcomes in Sturge-Weber Syndrome: A Systematic Review. Developmental Medicine & Child Neurology, 59, 24-31.
[12] Mavrogeni, S., Patsalou, E., Papadopoulos, E., et al. (2016) Spinal Vascular Malformations in Sturge-Weber Syndrome: Case Report and Review of the Literature. Child’s Nervous System, 32, 183-187.
[13] Holodny, A.I., Krol, G. and Naidich, T.P. (2014) Neuroimaging of Sturge-Weber Syndrome: Current Concepts. Neuroimaging Clinics of North America, 24, 467-483.
[14] Poretti, A., Huisman, T.A. and Boltshauser, E. (2015) Neuroimaging in Sturge-Weber Syndrome: Recent Advances and Future Directions. European Journal of Paediatric Neurology, 19, 387-395.
[15] Metry, D.W., Heyer, G., Baselga, E., et al. (2011) Phace Syndrome: the Phenotypic Spectrum of Posterior Fossa Anomalies, Hemangiomas, Arterial Anomalies, Coarctation of the Aorta and Cardiac Defects, and Eye Abnormalities. Pediatrics, 127, E147-E160.
[16] Baugh, R.F. and Roach, E.S. (2013) Sturge-Weber Syndrome: A Review. Journal of Child Neurology, 28, 1147-1153.
[17] Berg, A.T., Berkovic, S.F., Brodie, M.J., et al. (2010) Revised Terminology and Concepts for Organization of Seizures and Epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia, 51, 676-685. [Google Scholar] [CrossRef] [PubMed]
[18] Wheless, J.W. (2014) Antiepileptic Drug Selection for Infants and Children with Epilepsy. Seminars in Pediatric Neurology, 21, 157-167.
[19] Mathern, G.W., Wyllie, E., Lüders, H.O., et al. (2013) Surgical Outcome and Neuropsychological Function After Hemispherectomy in 71 Children with Sturge-Weber Syndrome and Other Hemispheric Lesions. Epilepsia, 54, 479-490.
[20] Vlachos, A., Koutroumanidis, M., Argyropoulos, S., et al. (2016) Vagus Nerve Stimulation for Drug-Resistant Epilepsy in Sturge-Weber Syndrome: A Case Series and Review of the Literature. Seizure, 37, 103-107.
[21] Jr. Greinwald, J.H., Frieden, I.J. and Esterly, N.B. (2014) Sturge-Weber Syndrome: Update on Pathogenesis and Treatment. Journal of the American Academy of Dermatology, 70, 489-506.
[22] Kothare, S.V. and Wyllie, E. (2015) Acute Symptomatic Seizures and Status Epilepticus in Childhood. Journal of Child Neurology, 30, 92-105.
[23] Jambaque, I., Chiron, C., Dumas, C., et al. (2011) Long-Term Prognosis of Sturge-Weber Syndrome: A 30-Year Follow-Up Study. Neuropediatrics, 42, 153-158.
[24] Roach, E.S., Glaze, D.G., Ebeling, M., et al. (2004) Practice Parameter: Evaluation and Treatment of Children with Sturge-Weber Syndrome: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology, 63, 885-893.
[25] Al-Mefty, O., Borba, L.A. and Tabaee, A. (2010) Clival Chordomas: Surgical Management and Outcome. Neurosurgery, 66, 663-673.
[26] Fishman, S.J. (2012) Renal and Genitourinary Manifestations of Phakomatoses. Pediatric Nephrology, 27, 23-34.
[27] Kwan, P., Steven, C., Schachter, M.D., et al. (2011) Early Identification of Refractory Epilepsy. The New England Journal of Medicine, 365, 893-901. [Google Scholar] [CrossRef] 
[28] Vezzani, A., Balosso, S. and Ravizza, T. (2019) Neuroinflammation and Epilepsy: Experimental and Clinical Evidence. Nature Reviews Neurology, 15, 107-120. [Google Scholar] [CrossRef] [PubMed]
[29] Van Raamsdonk, C.D., Bezrookove, V., Green, G., et al. (2010) Somatic Activating Mutations in GNAQ and GNA11 in Uveal Melanoma. The New England Journal of Medicine, 363, 2491-2503.
[30] Shirley, M.D., Uebelhoer, M., Puri, A., et al. (2015) Sturge-Weber Syndrome: Current Management and Future Directions. Pediatric Neurology, 53, 265-277.

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