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綜合征; 面部血管瘤; 癲癇

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【摘要】　目的　分析無面部血管瘤的Sturge-Weber綜合征（SWS）的臨床特點。　方法　 2008年10月收治1例女性患兒，8歲，因發作性四肢強直入院，患兒無面部血管瘤及眼部異常，僅表現為癲癇。患兒接受丙戊酸鈉抗癲癇治療。　結果　患兒經頭部CT、MRI確診為無面部血管瘤的SWS。抗癲癇治療后隨訪12個月，未再發癲癇，智力發育無減退，未出現癱瘓、蛛網膜下腔出血、腦出血、腦卒中樣發作等。　結論　無面部血管瘤的SWS確診依靠頭部CT及MRI，治療方法為藥物抗癲癇治療。復習文獻得出無面部血管瘤的SWS患者臨床表現不同于有面部血管瘤者，多僅表現出癲癇發作，且藥物治療有效，無需手術切除病灶，預后較好。
【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.
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.	張亞男, 周沐科, 郭建, 等. 無面部葡萄酒痣的Sturge-Weber綜合征Ⅲ型一例[J].中華神經科雜志, 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.

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. 　張亞男, 周沐科, 郭建, 等. 無面部葡萄酒痣的Sturge-Weber綜合征Ⅲ型一例[J].中華神經科雜志, 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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