One Case of Sturge-Weber Syndrome without Facial Hemangioma_West China Medical Journal

Authors：

ZHANG Yanan , LAI Xiaohui ,  HE Li

Department of Neurology,West China Hospital, Sichuan University, Chengdu, Sichuan 610041, P. R. China;

Corresponding author：

HE Li, Email: dr.yananzhang@163.com

Keywords：

Sturge-Weber综合征; 面部血管瘤; 癫痫

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【摘要】　目的　分析无面部血管瘤的Sturge-Weber综合征（SWS）的临床特点。　方法　 2008年10月收治1例女性患儿，8岁，因发作性四肢强直入院，患儿无面部血管瘤及眼部异常，仅表现为癫痫。患儿接受丙戊酸钠抗癫痫治疗。　结果　患儿经头部CT、MRI确诊为无面部血管瘤的SWS。抗癫痫治疗后随访12个月，未再发癫痫，智力发育无减退，未出现瘫痪、蛛网膜下腔出血、脑出血、脑卒中样发作等。　结论　无面部血管瘤的SWS确诊依靠头部CT及MRI，治疗方法为药物抗癫痫治疗。复习文献得出无面部血管瘤的SWS患者临床表现不同于有面部血管瘤者，多仅表现出癫痫发作，且药物治疗有效，无需手术切除病灶，预后较好。
【Abstract】　Objective　 To analyze the clinical features of Sturge-Weber syndrome without facial hemangioma. 　Methods　 One eight-year-old girl was admitted to the hospital for tonic seizure in October 2008. The physical examination results were normal with neither facial hemangioma nor ocular abnormalities. The only manifestation of the patient was epilepsy. The patient was treated with sodium valproate. 　Results　 According to cranial CT and MRI results, the patient was considered to have Sturge-Weber syndrome without facial hemangioma. The patient was treated with anticonvulsant drugs and experienced no recurrence of the seizures or any manifestations of mental retardation, hemiplegia, subarachnoid hemorrhage, cerebral hemorrhage, stroke-like episodes or migraine during the following 12 months of follow-up. 　Conclusion　 In the absence of facial hemangioma, the diagnosis can be based on cranial CT and MRI. Sturge-Weber syndrome patients without facial hemangioma are helped by anticonvulsant drugs. According to this case and the reports of literature, most patients without facial hemangioma only manifest epilepsy which can be treated effectively with antiepileptic drugs and such patients have a good prognosis without operation, which is different from those with facial hemangioma.

Citation： ZHANG Yanan,LAI Xiaohui,HE Li. One Case of Sturge-Weber Syndrome without Facial Hemangioma. West China Medical Journal, 2011, 26(5): 671-673. doi: Copy

1.	Comi AM. Update on Sturge-Weber syndrome: diagnosis, treatment, quantitative measures, and controversies[J]. Lymphat Res Biol, 2007, 5(4): 257-264.
2.	Roach ES. Neurocutaneous syndromes[J]. Pediatr Clin North Am, 1992, 39(4): 591-620.
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13.	Gururaj AK, Sztriha L, Johansen J, et al. Sturge-Weber syndrome without facial nevus: a case report and review of the literature[J]. Acta Paediatr, 2000, 89(6): 740-743.
14.	Martínez-Bermejo A, Tendero A, López-Martín V, et al. Occipital leptomeningeal angiomatosis without facial angioma. Could it be considered a variant of Sturge-Weber syndrome?[J]. Rev Neurol, 2000, 30(9): 837-841.
15.	Pascual-Castroviejo I, Pascual-Pascual SI, Viao J, et al. Sturge-Weber syndrome without facial nevus[J]. Neuropediatrics, 1995, 26(4): 220-222.
16.	Liang CW, Liang KH. Sturge-Weber syndrome without facial nevus[J]. Chin Med J (Engl), 1992, 105(11): 964-965.
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18.	De〖JX-+0.5mm〗〖KG-0.5mm〗〖SX(B-1.6mm〗ˇ〖〗g〖SX)〗〖JX+0.5mm〗erliyurt A, Kantar A, Ceylaner S, et al. Hypomelanosis of Ito and Sturge-Weber syndrome without facial nevus: an association or a new syndrome?[J]. Pediatr Neurol, 2009, 40(5): 395-397.
19.	Nowak CB. The phakomatoses: dermatologic clues to neurologic anomalies[J]. Semin Pediatr Neurol, 2007, 14(3): 140-149.
20.	Ch’ng S, Tan ST. Facial port-wine stains-clinical stratification and risks of neuro-ocular involvement[J]. J Plast Reconstr Aesthet Surg, 2008, 61(8): 889-893.
21.	Bulteau C, Dorfmüller G, Fohlen M, et al. Long-term outcome after hemispheric disconnection[J].Neurochirurgie, 2008, 54(3): 358-361.

1. 　Comi AM. Update on Sturge-Weber syndrome: diagnosis, treatment, quantitative measures, and controversies[J]. Lymphat Res Biol, 2007, 5(4): 257-264.
2. 　Roach ES. Neurocutaneous syndromes[J]. Pediatr Clin North Am, 1992, 39(4): 591-620.
3. 　Miyama S, Goto T. Leptomeningeal angiomatosis with infantile spasms[J]. Pediatr Neurol, 2004, 31(5): 353-356.
4. 　Kumar S, Muranjan MN, Tullu MS, et al. Incomplete monosymptomatic leptomeningeal angiomatosis[J]. Indian J Pediatr, 2004, 71(10): 947.
5. 　张亚男, 周沐科, 郭建, 等. 无面部葡萄酒痣的Sturge-Weber综合征Ⅲ型一例[J].中华神经科杂志, 2009, 42(6): 431.
6. 　Taly AB, Nagaraja D, Das S, et al. Sturge-Weber-Dimitri disease without facial nevus[J]. Neurology, 1987, 37(6):1063-1064.
7. 　Kim W, Kim JS, An JY, et al. Sturge-Weber syndrome, without a facial port-wine stain, with epilepsy onset in the fifth decade[J]. Epileptic Disord, 2008, 10(1): 76-77.
8. 　Taddeucci G, Bonuccelli A, Polacco P. Migraine-like attacks in child with Sturge-Weber syndrome without facial nevus[J]. Pediatr Neurol, 2005, 32(2): 131-133.
9. 　Comi AM, Fischer R, Kossoff EH. Encephalofacial angiomatosis sparing the occipital lobe and without facial nevus: on the spectrum of Sturge-Weber syndrome variants?[J]. J Child Neurol, 2003, 18(1): 35-38.
10. 　Dilber C, Tasdemir HA, Dagdemir A, et al. Sturge-Weber syndrome involved frontoparietal region without facial nevus[J]. Pediatr Neurol, 2002, 26(5): 387-390.
11. 　Sen Y, Dilber E, Odemis E, et al. Sturge-Weber syndrome in a 14-year-old girl without facial naevus[J]. Eur J Pediatr, 2002, 161(9): 505-506.
12. 　Aydin A, Cakmaki H, Kovanlikaya A, et al. Sturge-Weber syndrome without facial nevus[J]. Pediatr Neurol, 2000, 22(5): 400-402.
13. 　Gururaj AK, Sztriha L, Johansen J, et al. Sturge-Weber syndrome without facial nevus: a case report and review of the literature[J]. Acta Paediatr, 2000, 89(6): 740-743.
14. 　Martínez-Bermejo A, Tendero A, López-Martín V, et al. Occipital leptomeningeal angiomatosis without facial angioma. Could it be considered a variant of Sturge-Weber syndrome?[J]. Rev Neurol, 2000, 30(9): 837-841.
15. 　Pascual-Castroviejo I, Pascual-Pascual SI, Viao J, et al. Sturge-Weber syndrome without facial nevus[J]. Neuropediatrics, 1995, 26(4): 220-222.
16. 　Liang CW, Liang KH. Sturge-Weber syndrome without facial nevus[J]. Chin Med J (Engl), 1992, 105(11): 964-965.
17. 　Pandolfi C, Pellegrini L, Vitelli E, et al. Asymptomatic bilateral occipital calcifications: a possible atypical form of Sturge-Weber-Krabbe syndrome?[J]. Minerva Med, 1992, 83(10): 663-666.
18. 　De〖JX-+0.5mm〗〖KG-0.5mm〗〖SX(B-1.6mm〗ˇ〖〗g〖SX)〗〖JX+0.5mm〗erliyurt A, Kantar A, Ceylaner S, et al. Hypomelanosis of Ito and Sturge-Weber syndrome without facial nevus: an association or a new syndrome?[J]. Pediatr Neurol, 2009, 40(5): 395-397.
19. 　Nowak CB. The phakomatoses: dermatologic clues to neurologic anomalies[J]. Semin Pediatr Neurol, 2007, 14(3): 140-149.
20. 　Ch’ng S, Tan ST. Facial port-wine stains-clinical stratification and risks of neuro-ocular involvement[J]. J Plast Reconstr Aesthet Surg, 2008, 61(8): 889-893.
21. 　Bulteau C, Dorfmüller G, Fohlen M, et al. Long-term outcome after hemispheric disconnection[J].Neurochirurgie, 2008, 54(3): 358-361.

West China Medical Journal

One Case of Sturge-Weber Syndrome without Facial Hemangioma

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