Hostname: page-component-848d4c4894-nr4z6 Total loading time: 0 Render date: 2024-05-31T15:51:59.325Z Has data issue: false hasContentIssue false
  • English
  • Français

Sturge-Weber Syndrome. Study of 55 Patients

Published online by Cambridge University Press:  02 December 2014

Ignacio Pascual-Castroviejo ,
Samuel-Ignacio Pascual-Pascual ,
Ramón Velazquez-Fragua  and
Juán Viaño
Ignacio Pascual-Castroviejo
Affiliation:
The Pediatric Neurology Service, University Hospital La Paz
Samuel-Ignacio Pascual-Pascual
Affiliation:
The Pediatric Neurology Service, University Hospital La Paz
Ramón Velazquez-Fragua
Affiliation:
The Pediatric Neurology Service, University Hospital La Paz
Juán Viaño
Affiliation:
Image Unit, Nuestra Señora del Rosario Clinic, Madrid, Spain
Rights & Permissions [Opens in a new window]

Abstract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.
Purpose:

To review the clinical and neuroimaging features of a large series of patients with Sturge-Weber syndrome (SWS) seen over a 40-year period.

Methods:

Fifty-five patients with SWS (30 males and 25 females), were studied between 1965 and 2004. Results of neurological and ophthalmological examinations, electroencephalographic, and neuroimaging studies were reviewed. All patients were seen by one of the authors (I. P-C).

Results:

Epilepsy, hemiparesis, mental retardation and ocular problems were the most frequent and severe features of patients with Sturge-Weber syndrome in this series. The facial nevus flammeus was unilateral in 35 (63.5%) patients, bilateral in 17 (31%) and absent in 3 (5.5%) of the patients with leptomeningeal angiomas. Seven (41%) of the 17 patients with bilateral nevus flammeus had unilateral leptomeningeal angiomas. Seizures occurred in 47 patients (85.5%). Complete seizure control was obtained in 20 patients (42.5%), but in 2 of these 20 patients seizures were controlled only after lobectomy. All patients with unilateral or bilateral upper eyelid nevus flammeus had ipsilateral, unilateral or bilateral choroid-retinal angiomas. Only 20 (36%) of the 55 patients had low-normal or borderline intelligence (IQs<70). No relationship was observed between the size of the facial nevus flammeus and the severity of the brain lesion.

Conclusions:

Epilepsy, hemiparesis, mental retardation and ocular problems were the most frequent and severe features of patients with Sturge-Weber syndrome in this series. Cerebral lesions followed a progressive course during early childhood, but not later. Early surgical treatment controlled the seizures but other neurological problems such as hemiparesis and intellectual deficits showed a less satisfactory response. Early onset of seizures and poor response to medical treatment, bilateral cerebral involvement and unilateral severe lesions were indicative of a poor prognosis. Limited intelligence and social skills, poor aesthetic appearance and seizures complicated the integration of SWS patients. These features must be addressed in order for the patients improve social interactions, obtain gainful employment and achieve a better quality of life.

Résumé:

<span class='bold'>RÉSUMÉ:</span><span class='bold'><span class='italic'>Objectif:</span></span>

Il s’agit d’une revue des manifestations cliniques et de neuroimagerie observées chez une grande sèrie de patients atteints du syndrome de Sturge-Weber (SSW) examinés au cours d'une période de 40 ans.

<span class='bold'><span class='italic'>Méthodes:</span></span>

Cinquante-cinq patients atteints du SSW (30 hommes et 25 femmes), ont été examinés entre 1965 et 2004. Nous revoyons les résultats des examens neurologiques et ophtalmologiques, des études électroencéphalographiques et de neuroimagerie. Tous les patients ont été examinés par un des auteurs (I.P - C).

<span class='bold'><span class='italic'>Résultats:</span></span>

Les manifestations les plus fréquentes et les plus sévères chez les patients atteints du SSW dans cette série de cas étaient l’épilepsie, l’hémiparésie, le retard mental et les problèmes oculaires. Le naevus flammeus facial était unilatéral chez 35 patients (63,5%) atteints d’angiomes des leptoméninges, bilatéral chez 17 patients (31%) et absent chez 3 patients (5,5%). Sept patients (41%) parmi les 17 patients atteints de naevus flammeus bilatéral avaient des angiomes leptoméningés unilatéraux. Quarante-sept patients (85,5%) présentaient des crises convulsives. Un controle absolu des crises a été obtenu chez 20 patients (42,5%). Cependant, chez 2 de ces patients les crises ont été controlées seulement après une lobectomie. Tous les patients porteurs de naevus flammeus unilatéral ou bilatéral de la paupière supérieure avaient des angiomes choroido-rétiniens ipsilatéraux, unilatéraux ou bilatéraux. Seulement 20 des 55 patients (36%) avaient une intelligence normale basse ou limite (QI < 70). Aucune relation n’a été observée entre la taille des naevi faciaux et la sévérité des lésions cérébrales.

<span class='bold'><span class='italic'>Conclusions:</span></span>

L'épilepsie, l’hémiparésie, le retard mental et les problèmes oculaires étaient les manifestations les plus fréquentes et les plus sévères du SSW chez les patients de cette série. Les lésions cérébrales progressaient tot dans l’enfance, mais elle ne progressaient pas par la suite. Un traitement chirurgical précoce a permis de controler les crises convulsives mais les résultats étaient mitigés en ce qui concerne les autres problèmes neurologiques comme l’hémiparésie et les déficits intellectuels. Un début précoce des crises convulsives, une réponse mitigée au traitement, des lésions cérébrales bilatérales et des lésions sévères unilatérales étaient associées à un pronostic défavorable. Une intelligence et des habiletés sociales limitées, une apparence peu esthétique et des crises convulsives compromettaient l’intégration des patients atteints de SSW. Ces problèmes doivent ètre abordés afin d'améliorer les interactions sociales et la qualité de vie des patients et de favoriser leur accès à un emploi rémunérateur.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 35 , Issue 3 , July 2008 , pp. 301 - 307
Copyright
Copyright © The Canadian Journal of Neurological 2008

References

1. Pascual-Castroviejo, I, Díaz-Gonzalez, C, García-Melián, RM, Gonzalez-Casado, I, Muñoz-Hiraldo, E. Sturge-Weber syndrome: Study of 40 patients. Pediatric Neurol. 1993; 9 (4): 283–8.CrossRefGoogle ScholarPubMed
2. Pascual-Castroviejo, I, Pascual-Pascual, SI, Viaño, J, Martinez, V, Coya, J. Sturge-Weber syndrome without facial nevus. Neuropediatrics. 1995; 26 (4): 220–2.CrossRefGoogle ScholarPubMed
3. Peterman, AF, Hayles, AB, Dockerty, MB, Love, JG. Encephalotrigeminal angiomatosis (Sturge-Weber disease): clinical study of thirty-five cases. JAMA. 1958; 167 (18): 2169–76.CrossRefGoogle ScholarPubMed
4. 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 Child Neurol. 2003; 18 (1): 35–8.CrossRefGoogle ScholarPubMed
5. Bebin, EM, Gomez, MR. Prognosis in Sturge-Weber disease: comparison of unihemispheric and bihemispheric involvement. J Child Neurol. 1988; 3 (3): 181–4.CrossRefGoogle ScholarPubMed
6. Sujansky, E, Conradi, S. Outcome of Sturge-Weber syndrome in 52 adults. Am J Med Genet 1995; 57(1): 35–45.CrossRefGoogle ScholarPubMed
7. Buttler, G, Schulte, FJ. Zur operation behandbung des Sturge-Weber syndrome. Neuropediatrie. 1975; 6 (2): 135–41.CrossRefGoogle Scholar
8. Rosen, I, Salford, L. Sturge-Weber disease -neurophysiological evaluation of a case with secondary epileptogenesis, successfully treated with lobe-ectomy. Neuropediatrics. 1984; 15 (2): 95–8.CrossRefGoogle ScholarPubMed
9. Hoffmann, HJ, Hendrick, EB, Dennis, M, Amstrong, D. Hemispherectomy for Sturge-Weber syndrome. Childs Brain. 1979; (3): 233–48.Google Scholar
10. Ogunmekan, AO, Hwang, PA, Hoffmann, HJ. Sturge-Weber-Dimitry disease. Role of hemispherectomy in prognosis. Can J Neurol Sci. 1989; 16: (1): 78–80.CrossRefGoogle ScholarPubMed
11. Arzimanoglou, AA, Andermann, F, Aicardi, J, Sainte-Rose, C, Beaulieu, MA, Villemure, JC, et al. Sturge-Weber syndrome. Indications and results of surgery in 20 patients. Neurology. 2000; 55 (10): 1472–9.CrossRefGoogle ScholarPubMed
12. Kossoff, EH, Buck, C, Freeman, JM. Outcomes of 32 hemispherectomies for Sturge-Weber syndrome worldwide. Neurology. 2002; 59 (12): 1735–8.CrossRefGoogle Scholar
13. Schropp, C, Sörensen, N, Krauss, J. Early periinsular hemispherectomy in children with Sturge-Weber syndrome and intractable epilepsy-outcome in eight patients. Neuropediatrics. 2006; 37 (1): 26–31.CrossRefGoogle ScholarPubMed
14. Tuxhorn, IEB, Pannek, HW. Epilepsy surgery in bilateral Sturge-Weber syndrome. Pediatr Neurol. 2002; 26 (5): 394–7.CrossRefGoogle ScholarPubMed
15. Lin, DDM, Barker, PB, Kraut, MA, Comi, A. Early characteristics of Sturge-Weber syndrome shown by perfusion MR imaging and proton MR spectroscopic imaging. Am J Neuroradiol. 1003; 24 (9): 1912–5.Google Scholar
16. Kossoff, EH, Hatfield, LA, Ball, KL, Comi, AM. Comorbidity of epilepsy and headache in patients with Sturge-Weber syndrome. J Child Neurol. 2005; 20 (8): 678–82.Google ScholarPubMed
17. Chapieski, L, Friedman, A, Lachar, D. Psychological functioning in children and adolescents with Sturge-Weber syndrome. J Child Neurol. 2000; 15 (10): 660–5.CrossRefGoogle ScholarPubMed
18. Martí-Bonmatí, L, Menor, F, Poyatos, C, Cortina, H. Diagnosis of Sturge-Weber syndrome: comparison of the efficacy of CT and MR imaging in 14 cases. AJR Amer J Radiol. 1991; 158 (4): 867–71.Google Scholar
19. Kitahara, T, Maki, Y. A case of Sturge-Weber disease with epilepsy and intracranial calcification in the neonatal period. Eur Neurol. 1978; 17(1) 8–12.CrossRefGoogle ScholarPubMed
20. Portilla, P, Husson, B, Lasjaunias, P, Landrieu, P. Sturge-Weber disease with repercussion on the prenatal development of the cerebral hemisphere. AJNR Am J Neuroradiol. 2002; 23(3): 490–2.Google ScholarPubMed
21. Campistol, J, García-Cazorla, A, Gonzalez-Campo, C. Sturge-Weber disease with unusual cerebral atrophy and hydrocephalus. Eur J Paediatr Neurol. 1999; 3 (5): 227–9.CrossRefGoogle Scholar
22. Di Trapani, G, Di Rocco, C, Abbmonti, AL, Calderelli, M. Light microscopy and ultrastructural studies of Sturge-Weber disease. Childs Brain. 1982; 9 (1): 23–6.Google ScholarPubMed
23. Kiley, MA, Oxburg, JM, Coley, SC. Intracranial hypertension in Sturge-Weber / Klippel-Trenaunay-Weber overlap syndrome due to impairment of cerebral-venous outflow. J Clin Neurosci. 2002; 9 (3): 330–8.CrossRefGoogle ScholarPubMed
24. Benedikt, RA, Brown, DC, Walker, R, Ghaed, UN, Mitchell, M, Geyer, CA. Sturge-Weber syndrome: cranial MR imaging with Gd-DTPA. AJNR Am J Neuradiol. 1993; 14 (2): 409–15.Google ScholarPubMed
25. Griffiths, PD, Boodram, MB, Blaser, S, Altomare, F, Buncic, JR, Levin, AV, et al. Abnormal ocular enhancement in Sturge-Weber syndrome: correlation of ocular MR and CT findings with clinical and intracranial imaging findings. AJNR Am J Neuroradiol. 1996; 17 (4): 749–54.Google ScholarPubMed
26. Jacoby, CG, Yuh, WTC, Afifi, AK, Bell, WE, Schelper, RL, Sato, Y. Accelerated myelination in early Sturge-Weber syndrome demonstrated by MR imaging. J Comp Assist Tomogr. 1987; 11 (2): 226–31.CrossRefGoogle ScholarPubMed
27. Adamsbaum, C, Pinton, F, Rolland, Y, Chiron, C, Dulac, O, Kalifa, G. Accelerated myelination in early Sturge-Weber syndrome: MRISPECT correlations. Pediatr Radiol. 1996; 26 (11): 759–62.CrossRefGoogle ScholarPubMed
28. Vogl, TJ, Stemmler, J, Bergman, C, Pfluger, T, Egger, E, Lissner, J. MR and MR angiography of Sturge-Weber syndrome. AJNR Am J Neuroradiol. 1993; 14 (2): 417–25.Google Scholar
29. Lee, JS, Asano, E, Muzik, O, Chugani, DC, Juhász, C, Pfund, Z, et al. Sturge-Weber syndrome. Correlation between clinical course and FDG PET findings. Neurology. 2001; 57 (2): 189–95.CrossRefGoogle ScholarPubMed
30. Kelley, TM, Hatfield, LA, Lin, DDM, Comi, AM. Quantitative analysis of cerebral cortical atrophy and correlation with clinical severity in unilateral Sturge-Weber syndrome. J Child Neurol. 2005; 20 (11): 867–70.CrossRefGoogle ScholarPubMed
31. Comi, AM, Weisz, CJC, Highet, BH, Skolasky, RL, Pardo, CA, Hess, EJ. Sturge-Weber syndrome: altered blood vessel fibronectin expression and morphology. J Child Neurol. 2005; 20 (7): 572–7.CrossRefGoogle ScholarPubMed
32. Comi, AM. Pathophysiology of Sturge-Weber syndrome. J Child Neurol. 2003; 18 (8): 509–16.CrossRefGoogle ScholarPubMed