Advances in Sturge-Weber syndrome

Current Opinion in Neurology

Volumn 19, Issue 2, 2006, Pages 124-128

  Comi, Anne M ^a  

^a KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

Ischemia; Neuroimaging; Neuropathology; Seizures; Sturge Weber syndrome; Treatment

Indexed keywords

ACETYLSALICYLIC ACID; ANTICONVULSIVE AGENT; CALCIUM CHANNEL BLOCKING AGENT; CARBAMAZEPINE; DIAZEPAM; GABAPENTIN; IBUPROFEN; OXCARBAZEPINE; PARACETAMOL; PHENOBARBITAL; SUMATRIPTAN; TOPIRAMATE; VALPROIC ACID;

BLOOD VESSEL INNERVATION; BRAIN BLOOD FLOW; BRAIN BLOOD VESSEL; BRAIN INJURY; CLINICAL TRIAL; ELECTROENCEPHALOGRAPHY; EXTRACELLULAR MATRIX; HEADACHE; HEMISPHERECTOMY; HEMODYNAMICS; HUMAN; NEUROIMAGING; NEUROLOGICAL COMPLICATION; NEUROPATHOLOGY; PATHOGENESIS; PATHOPHYSIOLOGY; PERFUSION WEIGHTED IMAGING; REVIEW; SEIZURE; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; STROKE; STURGE WEBER SYNDROME;

ANIMALS; DIAGNOSTIC IMAGING; ELECTROENCEPHALOGRAPHY; HUMANS; STURGE-WEBER SYNDROME;

EID: 33645067672     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.wco.0000218226.27937.57     Document Type: Review

References (44)

1. 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; 18:35-38.
2. Huq AH, Chugani DC, Hukku B, Serajee FJ. Evidence of somatic mosaicism in Sturge-Weber syndrome. Neurology 2002; 59:780-782.
3. Comi AM, Hunt P, Vawter MP, et al. Increased fibronectin expression in Sturge-Weber syndrome fibroblasts and brain tissue. Pediatr Res 2003; 53:762-769.
4. Eerola I, Boon LM, Mulliken JB, et al. Capillary malformation- arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet 2003; 73:1240-1249.
5. Norman MG, Schoene WC. The ultrastructure of Sturge-Weber disease. Acta Neuropathol (Berl) 1977; 37:199-205.
6. Di Trapani G, Di Rocco C, Abbamondi AL, et al. Light microscopy and ultrastructural studies of Sturge-Weber disease. Childs Brain 1982; 9:23-36.
7. Simonati A, Colamaria V, Bricolo A, et al. Microgyria associated with Sturge-Weber angiomatosis. Childs Nerv Syst 1994; 10:392-395.
8. Prayson RA, Grewal ID, McMahon JT, et al. Leukocyte adhesion molecules and x-ray energy dispersive spectroscopy in Sturge-Weber disease. Pediatr Neurol 1996; 15:332-336.
9. Sa M, Barroso CP, Caldas MC, et al. Innervation pattern of malformative cortical vessels in Sturge-Weber disease: an histochemical, immunohistochemical, and ultrastructural study. Neurosurgery 1997; 41:872-876.
10. Rhoten RL, Comair YG, Shedid D, et al. Specific repression of the preproendothelin-1 gene in intracranial arteriovenous malformations. J Neurosurg 1997; 86:101-108.
11. Comi AM, Weisz CJ, Highet BH, et al. Sturge-Weber syndrome: altered blood vessel fibronectin expression and morphology. J Child Neurol 2005; 20:572-577. This study describes the abnormal expression of fibronectin in the blood vessels of SWS and relates these findings to the pathogenesis.
12. Risau W, Lemmon V. Changes in the vascular extracellular matrix during embryonic vasculogenesis and angiogenesis. Dev Biol 1988; 125:441-450.
13. Hoffman KB, Pinkstaff JK, Gall CM, Lynch G. Seizure induced synthesis of fibronectin is rapid and age dependent: implications for long-term potentiation and sprouting. Brain Res 1998; 812:209-215.
14. Hahn AW, Resink TJ, Mackie E, et al. Effects of peptide vasoconstrictors on vessel structure. Am J Med 1993; 94:13S-19S.
15. Gavazzi I, Boyle KS, Cowen T. Extracellular matrix molecules influence innervation density in rat cerebral blood vessels. Brain Res 1996; 734:167-174.
16. Sujansky E, Conradi S. Sturge-Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children. J Child Neurol 1995; 10:49-58.
17. Miyama S, Goto T. Leptomeningeal angiomatosis with infantile spasms. Pediatr Neurol 2004; 31:353-356.
18. Sujansky E, Conradi S. Outcome of Sturge-Weber syndrome in 52 adults. Am J Med Genet 1995; 57:35-45.
19. Pascual-Castroviejo I, Diaz-Gonzalez C, Garcia-Melian RM, et al. Sturge-Weber syndrome: study of 40 patients. Pediatr Neurol 1993; 9:283-288.
20. Bebin EM, Gomez MR. Prognosis in Sturge-Weber disease: comparison of unihemispheric and bihemispheric involvement. J Child Neurol 1988; 3:181-184.
21. Lisotto C, Mainardi F, Maggioni F, Zanchin G. Headache in Sturge-Weber syndrome: a case report and review of the literature. Cephalalgia 2004; 24:1001-1004.
22. Taddeucci G, Bonuccelli A, Polacco P. Migraine-like attacks in child with Sturge-Weber syndrome without facial nevus. Pediatr Neurol 2005; 32:131-133.
23. Kossoff EH, Hatfield LA, Ball KL, Comi AM. Comorbidity of epilepsy and headache in patients with Sturge-Weber syndrome. J Child Neurol 2005; 20:678-682. This study characterizes SWS patients with both seizures and headaches and describes their treatment and relationship with stroke-like episodes.
24. Iizuka T, Sakai F, Yamakawa K, et al. Vasogenic leakage and the mechanism of migraine with prolonged aura in Sturge-Weber syndrome. Cephalalgia 2004; 24:767-770. This paper reports the detailed neuroimaging study of migraine in SWS and offers vasogenic leakage as a mechanism for the migraines.
25. Vogl TJ, Stemmler J, Bergman C, et al. MR and MR angiography of Sturge-Weber syndrome. AJNR Am J Neuroradiol 1993; 14:417-425.
26. Griffiths PD, Coley SC, Romanowski CA, et al. Contrast-enhanced fluid-attenuated inversion recovery imaging for leptomeningeal disease in children. AJNR Am J Neuroradiol 2003; 24:719-723.
27. Mentzel HJ, Dieckmann A, Fitzek C, et al. Early diagnosis of cerebral involvement in Sturge-Weber syndrome using high-resolution BOLD MR venography. Pediatr Radiol 2005; 35:85-90. This report suggests that the early diagnosis of SWS may be improved by the use of high-resolution BOLD magnetic resonance venography. Improved early diagnosis is an important goal for the future management of SWS.
28. Cakirer S, Yagmurlu B, Savas MR. Sturge-Weber syndrome: diffusion magnetic resonance imaging and proton magnetic resonance spectroscopy findings. Acta Radiol 2005; 46:407-410.
29. Lin DD, Barker PB, Kraut MA, Comi A. Early characteristics of Sturge-Weber syndrome shown by perfusion MR imaging and proton MR spectroscopic imaging. AJNR Am J Neuroradiol 2003; 24:1912-1915.
30. Riela AR, Stump DA, Roach ES, et al. Regional cerebral blood flow characteristics of the Sturge-Weber syndrome. Pediatr Neurol 1985; 1:85-90.
31. Namer IJ, Battaglia F, Hirsch E, et al. Subtraction ictal SPECT co-registered to MRI (SISCOM) in Sturge-Weber syndrome. Clin Nucl Med 2005; 30:39-40. This report demonstrates that seizures in SWS deprive brain areas of adequate blood flow. A prolonged seizure may therefore contribute to brain injury resulting from inadequate cerebral blood flow.
32. Duncan DB, Herholz K, Pietrzyk U, Heiss WD. Regional cerebral blood flow and metabolism in Sturge-Weber disease. Clin Nucl Med 1995; 20:522-523.
33. Lee JS, Asano E, Muzik O, et al. Sturge-Weber syndrome: correlation between clinical course and FDG PET findings. Neurology 2001; 57:189-195.
34. Bernai B, Altman N. Visual functional magnetic resonance imaging in patients with Sturge-Weber syndrome. Pediatr Neurol 2004; 31:9-15.
35. Brenner RP, Sharbrough FW. Electroencephalographic evaluation in Sturge-Weber syndrome. Neurology 1976; 26:629-632.
36. Fukuyama Y, Tsuchiya S. A study on Sturge-Weber syndrome: report of a case associated with infantile spasms and electroencephalographic evolution in five cases. Eur Neurol 1979; 18:194-204.
37. Jansen FE, van der Worp HB, van Huffelen HA, van Nieuwenhuizen NO. Sturge-Weber syndrome and paroxysmal hemiparesis: epilepsy or ischaemia? Dev Med Child Neurol 2004; 46:783-786.
38. Jansen FE, van Huffelen AC, Witkamp T, et al. Diazepam-enhanced beta activity in Sturge Weber syndrome: its diagnostic significance in comparison with MRI. Clin Neurophysiol 2002; 113:1025-1029.
39. Maria BL, Neufeld JA, Rosainz LC, et al. Central nervous system structure and function in Sturge-Weber syndrome: evidence of neurologic and radiologic progression. J Child Neurol 1998; 13:606-618.
40. Coley SC, Britton J, Clarke A. Status epilepticus and venous infarction in Sturge-Weber syndrome. Childs Nerv Syst 1998; 14:693-696.
41. Ville D, Enjolras O, Chiron C, Dulac O. Prophylactic antiepileptic treatment in Sturge-Weber disease. Seizure 2002; 11:145-150.
42. Arzimanoglou AA, Andermann F, Aicardi J, et al. Sturge-Weber syndrome: indications and results of surgery in 20 patients. Neurology 2000; 55:1472-1479.
43. Kossoff EH, Buck C, Freeman JM. Outcomes of 32 hemispherectomies for Sturge-Weber syndrome worldwide. Neurology 2002; 59:1735-1738.
44. Tuxhorn IE, Pannek HW. Epilepsy surgery in bilateral Sturge-Weber syndrome. Pediatr Neurol 2002; 26:394-397.