Introduction
Background
Sturge-Weber syndrome (SWS) is a congenital disorder caused by the persistence of the transitory primordial sinusoidal plexus stage of vessel development. SWS is usually sporadic and characterized by a vascular malformation, with capillary and/or venous malformation that involve the face, choroid of the eye, and leptomeninges. The facial vascular malformation has a predilection for the distribution of the first division of the trigeminal nerve. In addition to the vascular meningeal malformation, an underlying atrophy of the cerebral hemisphere is often present. The disease process is usually unilateral. Most patients (80%) have Epilepsy, and more than 50% have a mental deficiency.1,2,3,4,5,6,7
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Pathophysiology
Cranial manifestations
The pathologic lesions in SWS include vascular malformations of the face (capillary vascular malformation, also known as port-wine stain or nevus flammeus) and venous malformation or angiomas involving the leptomeninges and choroid plexus. These lesions lead to seizures, atrophy, cerebrovascular thrombosis, and dystrophic intracortical calcification. Several variants of cortical calcification have been reported; these include calcification, which is present at birth8 ; bilateral calcification (15%); and calcification contralateral to the facial nevus.
Cranial manifestation of SWS includes ipsilateral cerebral hemiatrophy associated with hemihypertrophy of the skull and sinuses, enlarged glomus of the choroid plexus, and abnormal myelination ipsilateral to the meningeal malformation. The hemicranium ipsilateral to the meningeal angioma may also be enlarged.1,9,10,11
Many cortical veins are either absent or replaced by a few enlarged cortical veins, which drain into the dural venous sinuses. With the absence of cortical veins, venous drainage may occur via enlarged deep medullary veins into the deep venous system. Nonvisualization of dural venous sinuses is common on angiograms in patients with SWS. An increased incidence of a persistent trigeminal artery has also been reported.9,12
Orbital manifestations
Several orbital anomalies have been described; these occur on the ipsilateral side and include glaucoma (infantile onset [buphthalmos] or onset later in life) (30%); choroidal hemangioma (71%); dilated tortuous conjunctival, episcleral, and retinal vessels; and retinal detachment.
Systemic manifestations include focal or diffuse vascular malformations, which have been described in the thyroid gland, lungs, bowel, kidneys, spleen, pancreas, and ovaries.
Intracranial vascular findings similar to those of SWS may be found in patients with other vascular syndromes, especially Klippel-Trenaunay-Weber syndrome (KTWS). However, KTWS is often associated with overgrowth of digits or limbs and peripheral vascular malformations.
Facial capillary vascular malformation (ie, port-wine stain or nevus flammeus) is common in the pediatric population. In their study of 106 patients with port-wine stains, Enjolras and associates concluded that patients with lesions located in the ophthalmic (or cranial nerve VI, trigeminal) cutaneous area are at risk for associated neuro-ocular symptoms.13,14
Frequency
United States
SWS is a sporadic disease; its exact incidence is not known.
International
SWS is a sporadic disease; its exact incidence is not known.
Mortality/Morbidity
Reduced intellectual capacity (or developmental delay) and hemiparesis eventually develop in most patients if medical and surgical treatments are unsuccessful. Reduced intellectual capacity occurs in more than 50% of patients.
Race
SWS is a sporadic disease; no racial predilection is known.
Sex
SWS is a sporadic disease; no sex predilection is known.
Age
Seizures may occur in the first year of life (80% of cases).
Presentation
Most patients have a facial capillary vascular malformation lesion (ie, port-wine stain, or nevus flammeus), usually in the distribution of the first and/or second divisions of the trigeminal nerve. A first-division trigeminal distribution is associated with occipital meningeal involvement; a second-division distribution, with parietal meningeal involvement; and a third-division distribution, with frontal meningeal involvement.
About 80% of affected persons have focal seizures involving the side contralateral to the nevus, usually in their first year of life; contralateral hemiplegia; homonymous hemianopia; cortical blindness; contralateral atrophy of limbs; and/or a contralateral hemisensory deficit. Approximately half of the patients have developmental delay. Ocular manifestations, such as glaucoma, buphthalmos, coloboma of the iris, retinal detachment, and strabismus, may be present. The association of a coloboma may be incidental.15
A rare form of bilateral neonatal SWS has been described. The CT and MRI features of cortical calcification and meningeal angiomatosis are typical of SWS but unusual in children younger than 1 year. Yeakley et al have described a child presenting with both of these features, which occurred bilaterally in the neonatal period.8 A rare association with KTWS has been described in cases in which clinical criteria diagnostic of both SWS and KTWS were present.
Preferred Examination
Examinations for SWS include the following: plain skull radiography, CT, MRI, angiography, and nuclear medicine studies.16,17,18,19,20,21,22,23,24,25
CT is more sensitive then plain skull radiography and MRI in the detection subcortical calcifications. However MRI with contrast is probably the best imaging test. It is superior to CT in the demonstration of abnormal myelination, and it is more sensitive in the demonstration of leptomeningeal enhancement, particularly in the presence of dense cortical calcification on CT scans. In addition, orbital associated malformations are well depicted on contrast-enhanced orbital MRI.
Limitations of Techniques
Calcification may not be detectable in individuals younger than 2 years. Other causes of gyriform intracranial calcification cannot always be differentiated from those found in SWS.MRI is expensive, it is less widely available, and patients may experience claustrophobia. MRI is contraindicated in patients with certain types of cardiac pacemakers and ferromagnetic prostheses.
Klippel-Trenaunay-Weber syndrome and Wyburn-Mason syndrome may cause similar angiographic appearances.
Cerebral perfusion defects and areas of hypometabolism are seen with positron emission tomography (PET) in a variety of epileptogenic foci.
Differential Diagnoses
Other Problems to Be Considered
Klippel-Trenaunay syndrome
Wyburn-Mason syndrome
Other causes of gyriform intracranial calcification are rare but may include cerebral infarction, meningitis and encephalitis, skull irradiation, meningioangiomatosis, celiac disease, and leukemia after the intrathecal administration of methotrexate.
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References
Cure JK, Van Tassel P. Congenital and acquired abnormalities of the dural venous sinuses. Semin Ultrasound CT MR. Dec 1994;15(6):520-39. [Medline].
Kihiczak NI, Schwartz RA, Jozwiak S. Sturge-Weber syndrome. Cutis. Mar 2000;65(3):133-6. [Medline].
Maria BL, Neufeld JA, Rosainz LC. High prevalence of bihemispheric structural and functional defects in Sturge-Weber syndrome. J Child Neurol. Dec 1998;13(12):595-605. [Medline].
Maria BL, Neufeld JA, Rosainz LC. Central nervous system structure and function in Sturge-Weber syndrome: evidence of neurologic and radiologic progression. J Child Neurol. Dec 1998;13(12):606-18. [Medline].
Pascual-Castroviejo I, Diaz-Gonzalez C, Garcia-Melian RM. Sturge-Weber syndrome: study of 40 patients. Pediatr Neurol. Jul-Aug 1993;9(4):283-8. [Medline].
Powell J. Update on hemangiomas and vascular malformations. Curr Opin Pediatr. Oct 1999;11(5):457-63. [Medline].
Romanowski CA, Cavallin LI. Tuberous sclerosis, von Hippel-Lindau disease, Sturge-Weber syndrome. Hosp Med. Mar 1998;59(3):226-31. [Medline].
Yeakley JW, Woodside M, Fenstermacher MJ. Bilateral neonatal Sturge-Weber-Dimitri disease: CT and MR findings. AJNR Am J Neuroradiol. Jul-Aug 1992;13(4):1179-82. [Medline].
Duncan DB, Herholz K, Pietrzyk U. Regional cerebral blood flow and metabolism in Sturge-Weber disease. Clin Nucl Med. Jun 1995;20(6):522-3. [Medline].
Herron J, Darrah R, Quaghebeur G. Intra-cranial manifestations of the neurocutaneous syndromes. Clin Radiol. Feb 2000;55(2):82-98. [Medline].
Ku PK, Kew J, van Hasselt CA. Paranasal sinus enlargement in Sturge-Weber syndrome. J Laryngol Otol. Feb 1999;113(2):177-8. [Medline].
Fishman MA, Baram TZ. Megalencephaly due to impaired cerebral venous return in a Sturge-Weber variant syndrome. J Child Neurol. Apr 1986;1(2):115-8. [Medline].
Enjolras O, Riche MC, Merland JJ. Facial port-wine stains and Sturge-Weber syndrome. Pediatrics. Jul 1985;76(1):48-51. [Medline].
Gururaj AK, Sztriha L, Johansen J. Sturge-Weber syndrome without facial nevus: a case report and review of the literature. Acta Paediatr. Jun 2000;89(6):740-3. [Medline].
Hooshang T, Lachman RS. Sturge-Weber syndrome. In: Radiolgy of Syndromes, Metabolic Disorders and Skeletal Dysplasias. 1996: 437-74.
Aguiar PH, Liu CW, Leitao H. MR and CT imaging in the Dyke-Davidoff-Masson syndrome. Report of three cases and contribution to pathogenesis and differential diagnosis. Arq Neuropsiquiatr. Dec 1998;56(4):803-7. [Medline].
Bar-Sever Z, Connolly LP, Barnes PD. Technetium-99m-HMPAO SPECT in Sturge-Weber syndrome. J Nucl Med. Jan 1996;37(1):81-3. [Medline].
Griffiths PD, Boodram MB, Blaser S. 99mTechnetium HMPAO imaging in children with the Sturge-Weber syndrome: a study of nine cases with CT and MRI correlation. Neuroradiology. Mar 1997;39(3):219-24. [Medline].
Marti-Bonmati L, Menor F, Mulas F. The Sturge-Weber syndrome: correlation between the clinical status and radiological CT and MRI findings. Childs Nerv Syst. Apr 1993;9(2):107-9. [Medline].
Sener RN, Jinkins JR. MR of craniocerebral hemiatrophy. Clin Imaging. Apr-Jun 1992;16(2):93-7. [Medline].
Sugama S, Yoshimura H, Ashimine K. Enhanced magnetic resonance imaging of leptomeningeal angiomatosis. Pediatr Neurol. Oct 1997;17(3):262-5. [Medline].
Tong KA, Ashwal S, Obenaus A, Nickerson JP, Kido D, Haacke EM. Susceptibility-Weighted MR Imaging: A Review of Clinical Applications in Children. AJNR Am J Neuroradiol. Oct 9 2007;[Medline].
Jordan LC, Wityk RJ, Dowling MM, Dejong MR, Comi AM. Transcranial Doppler ultrasound in children with sturge-weber syndrome. J Child Neurol. Feb 2008;23(2):137-43. [Medline].
Juhasz C, Lai C, Behen ME, Muzik O, Helder EJ, Chugani DC. White matter volume as a major predictor of cognitive function in Sturge-Weber syndrome. Arch Neurol. Aug 2007;64(8):1169-74. [Medline].
Hatfield LA, Crone NE, Kossoff EH, Ewen JB, Pyzik PL, Lin DD. Quantitative EEG asymmetry correlates with clinical severity in unilateral Sturge-Weber syndrome. Epilepsia. Jan 2007;48(1):191-5. [Medline].
Sijens PE, Gieteling EW, Meiners LC, Sival DA, Potze JH, Irwan R. Diffusion tensor imaging and magnetic resonance spectroscopy of the brain in a patient with Sturge-Weber syndrome. Acta Radiol. Nov 2006;47(9):972-6. [Medline].
Lin DD, Barker PB, Hatfield LA, Comi AM. Dynamic MR perfusion and proton MR spectroscopic imaging in Sturge-Weber syndrome: correlation with neurological symptoms. J Magn Reson Imaging. Aug 2006;24(2):274-81. [Medline].
Mentzel HJ, Dieckmann A, Fitzek C, Brandl U, Reichenbach JR, Kaiser WA. Early diagnosis of cerebral involvement in Sturge-Weber syndrome using high-resolution BOLD MR venography. Pediatr Radiol. Jan 2005;35(1):85-90. [Medline].
Chugani HT. The role of PET in childhood epilepsy. J Child Neurol. Oct 1994;9 Suppl 1:S82-8. [Medline].
Pinton F, Chiron C, Enjolras O. Early single photon emission computed tomography in Sturge-Weber syndrome. J Neurol Neurosurg Psychiatry. Nov 1997;63(5):616-21. [Medline].
Tuxhorn IE, Pannek HW. Epilepsy surgery in bilateral Sturge-Weber syndrome. Pediatr Neurol. May 2002;26(5):394-7. [Medline].
Devlin AM, Cross JH, Harkness W. Clinical outcomes of hemispherectomy for epilepsy in childhood and adolescence. Brain. Mar 2003;126(Pt 3):556-66. [Medline].
Vining EP, Freeman JM, Pillas DJ. Why would you remove half a brain? The outcome of 58 children after hemispherectomy-the Johns Hopkins experience: 1968 to 1996. Pediatrics. Aug 1997;100(2 Pt 1):163-71. [Medline].
Kossoff EH, Buck C, Freeman JM. Outcomes of 32 hemispherectomies for Sturge-Weber syndrome worldwide. Neurology. Dec 10 2002;59(11):1735-8. [Medline].
Kochar DK, Jain N, Sharma BV. Dyke-Davidoff Masson syndrome : neuroimage. Neurol India. Dec 2001;49(4):417. [Medline].
Sener RN. Growing skull fracture in a patient with cerebral hemiatrophy. Pediatr Radiol. 1995;25(1):64-5. [Medline].
Tasdemir HA, Incesu L, Yazicioglu AK. Dyke-Davidoff-Masson syndrome. Clin Imaging. Jan-Feb 2002;26(1):13-7. [Medline].
Winkler DT, Probst A, Wegmann W. Dyke Davidoff Masson syndrome with crossed cerebellar atrophy: an old disease in a new millenium. Neuropathol Appl Neurobiol. Oct 2001;27(5):403-5. [Medline].
Yamazaki K, Hirata K. [Dyke-Davidoff-Masson syndrome]. Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):177-8. [Medline].
Further Reading
Keywords
SWS, Sturge-Weber-Dimitri syndrome, encephalotrigeminal angiomatosis, trigeminal angiomatosis, meningofacial angiomatosis, encephalofacial angiomatosis, Dimitri's hemangiomatosis, Jahnke's syndrome (variant without glaucoma), Kulisher's syndrome, Krabbe's II syndrome, Lawford's syndrome (variant with glaucoma and without increased ocular pressure), meningocutaneous syndrome, neurooculocutaneous syndrome, Parkes Weber's phacomatosis, vascular encephalotrigeminal Weber-Dimitri syndrome
