Pediatric Sturge-Weber Syndrome 

  • Author: Masanori Takeoka, MD; Chief Editor: Amy Kao, MD   more...
 
Updated: Jan 5, 2010
 

Background

The Sturge-Weber syndrome (SWS), also called encephalotrigeminal angiomatosis, is a neurocutaneous disorder with angiomas involving the leptomeninges (leptomeningeal angiomas [LAs]) and skin of the face, typically in the ophthalmic (V1) and maxillary (V2) distributions of the trigeminal nerve. The cutaneous angioma is called a port-wine stain (PWS).[1, 2, 3]

In the brain, LAs demonstrated by structural neuroimaging may be unilateral or bilateral[4] ; unilateral angiomas are more common. Functional neuroimaging may demonstrate a greater area of involvement than structural neuroimaging.[5] This is called a structural versus functional mismatch.

The neurologic manifestations vary, depending on the location of the LAs, which most commonly are located in the parietal and occipital regions, and the secondary effects of the angioma. These include seizures, which may be intractable; focal deficits, such as hemiparesis and hemianopsia, both of which may be transient, called "strokelike episodes"; headaches; and developmental disorders, including developmental delay, learning disorders, and mental retardation. Developmental disorders are more common when angiomas are bilateral. Seizure control is thought to improve the neurologic outcome, and epilepsy surgery may be beneficial for refractory seizures.

The primary complications involving the ipsilateral eye are buphthalmos and glaucoma, with treatment aimed at controlling the intraocular pressure (IOP) and preventing progressive visual loss and blindness. Cosmetic concerns are also important, and laser therapy is available for the PWS. Concerns have been raised that laser therapy to treat PWS might cause or worsen glaucoma or ocular hypertension; however, a 2009 retrospective review did not reveal evidence to support this.[6] Extracranial angiomas and soft-tissue overgrowth also may occur. Certain CNS malformations have been associated with the syndrome; other neurocutaneous disorders are included in the differential diagnosis.

SWS is referred to as complete when both CNS and facial angiomas are present and incomplete when only 1 area is affected without the other. The Roach Scale is used for classification, as follows[7] :

  • Type I - Both facial and leptomeningeal angiomas; may have glaucoma
  • Type II - Facial angioma alone (no CNS involvement); may have glaucoma
  • Type III - Isolated LA; usually no glaucoma
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Pathophysiology

SWS is caused by residual embryonal blood vessels and their secondary effects on surrounding brain tissue. A vascular plexus develops around the cephalic portion of the neural tube, under ectoderm destined to become facial skin. Normally, this vascular plexus forms in the sixth week and regresses around the ninth week of gestation. Failure of this normal regression results in residual vascular tissue, which forms the angiomata of the leptomeninges, face, and ipsilateral eye.

Neurologic dysfunction results from secondary effects on surrounding brain tissue, which include hypoxia, ischemia, venous occlusion, thrombosis, infarction, or vasomotor phenomenon.[8, 9]

From a review of pathologic specimens, Norman and Schoene thought that blood flow abnormalities in the LA caused increased capillary permeability, stasis, and anoxia.[10] Garcia et al and Gomez and Bebin reported that venous occlusion might actually cause the initial neurologic event, either a seizure, transient hemiparesis, or both, thereby beginning the process.[11, 12]

A "vascular steal phenomenon" may develop around the angioma, resulting in cortical ischemia. Therefore, recurrent seizures, status epilepticus, intractable seizures, and recurrent vascular events may aggravate this steal further, with an increase in cortical ischemia, resulting in progressive calcification, gliosis, and atrophy, which in turn increase the chance of seizures and neurologic deterioration.[13, 14]

Disease progression and neurologic deterioration may occur in SWS. Although the actual LA is typically a static anatomic lesion, Maria et al, Reid et al, and Sujansky and Conradi have clearly documented the progressive nature of SWS.[15, 16, 17]

Udani et al followed the natural course and MRI findings of 9 patients with SWS. They found that earlier onset seizures correlated with more residual neurological deficits and worse focal cerebral atrophy, while in most cases the course stabilized after 5 years of age.[18]

Seizure control, aspirin therapy, and early surgical treatment may prevent neurologic deterioration.[19]

The main ocular manifestations (ie, buphthalmos, glaucoma) occur secondary to increased IOP with mechanical obstruction of the angle of the eye, elevated episcleral venous pressure, or increased secretion of aqueous fluid.

The etiology of SWS is unclear, although Huq et al reported evidence of somatic mosaicism in 4 patients with SWS.[20] Two had skin biopsy from port-wine stains, and the other 2 had LAs from hemispherectomy. Inversion of chromosome arm 4q and trisomy 10 were seen in one patient each. Malformed cortical vessels in SWS have been reported to be innervated only by noradrenergic sympathetic nerve fibers[21] , and increased endothelin-1 expression was also seen in malformed intracranial vessels. These findings may suggest increased vasoconstriction in these abnormal blood vessels, as endothelin-1 is a peptide associated with vasoconstriction.

Fibronectin is a molecule important in regulating angiogenesis, maintenance of the blood-brain barrier, blood vessel structure and function, as well as brain tissue responses to seizures. Comi et al reported that, in patients with SWS, decreased expression of fibronectin was noted in the leptomeningeal blood vessels while increased expression was noted in the parenchymal vessels. The leptomeningeal blood vessel circumference was decreased, while blood vessel density was increased in SWS.[22]

Overall, in SWS, a somatic mutation appears to cause alterations in regulation of the structure and function of blood vessels, innervation of the blood vessels, as well as expression of extracellular matrix and vasoactive molecules.

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Epidemiology

Frequency

United States

According to Nelson's Textbook of Pediatrics, the incidence of SWS is estimated at 1 per 50,000.[23] No regional differences have been identified. The inheritance is sporadic. The incidences of the major clinical manifestations of SWS are listed in Table 1.

Table 1. Clinical Manifestations of Sturge-Weber Syndrome (Open Table in a new window)

Risk of SWS with facial PWS8%
SWS without facial nevus13%
Bilateral cerebral involvement15%
Seizures72-93%
Hemiparesis25-56%
Hemianopia44%
Headaches44-62%
Developmental delay and mental retardation50-75%
Glaucoma30-71%
Choroidal hemangioma40%

Mortality/Morbidity

  • Neurologic and developmental morbidity includes seizures, weakness, strokes, headaches, hemianopsia, mental retardation, and developmental abnormalities. The development of seizures and the age of onset may correlate with the degree of neurologic involvement. Neurologic dysfunction increases with bilateral PWS. Patients may experience complications related to refractory seizures and anticonvulsants, visual loss and blindness from glaucoma, cosmetic deformities, and other manifestations of soft-tissue involvement.
  • Of 60 patients in the combined series from Children's Hospital, Boston, 2 deaths (3.3%) have been reported.[24, 25] In earlier cases reported by Erba and Cavazutti, 1 death occurred in the postoperative period, after epilepsy surgery; in recent cases, 1 death occurred secondary to intractable seizures. Oakes reported 4 deaths in 30 patients (14%).[26]

Race

No racial differences have been reported.

Sex

Both sexes are affected equally.

Age

  • The typical patient presents at birth with facial angiomas; however, not all children with facial angiomas and PWS have SWS, which raises certain diagnostic and prognostic concerns.
  • In the "incomplete" forms of SWS, CNS angiomas occur without cutaneous features (Type III, Roach Scale), and therefore, no suspicion of SWS arises until a seizure or other neurologic problem develops. Thus, the diagnosis of SWS is not always straightforward.
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Contributor Information and Disclosures
Author

Masanori Takeoka, MD  Assistant Professor, Department of Neurology, Harvard Medical School; Staff Physician, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Children's Hospital Boston

Masanori Takeoka, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, American Medical Association, Child Neurology Society, and Massachusetts Medical Society

Disclosure: Nothing to disclose.

Coauthor(s)

James J Riviello Jr, MD  George Peterkin Endowed Chair in Pediatrics, Professor of Pediatrics, Section of Neurology and Developmental Neuroscience, Professor of Neurology, Peter Kellaway Section of Neurophysiology, Baylor College of Medicine; Chief of Neurophysiology, Director of the Epilepsy and Neurophysiology Program, Texas Children's Hospital

James J Riviello Jr, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Specialty Editor Board

Robert J Baumann, MD  Professor of Neurology and Pediatrics, Department of Neurology, University of Kentucky College of Medicine

Robert J Baumann, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, and Child Neurology Society

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Senior Pharmacy Editor, eMedicine

Disclosure: eMedicine Salary Employment

Kenneth J Mack, MD, PhD  Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic

Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, and Society for Neuroscience

Disclosure: Nothing to disclose.

Selim R Benbadis, MD  Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, Tampa General Hospital, University of South Florida College of Medicine

Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society, and American Medical Association

Disclosure: UCB Pharma Honoraria Speaking, consulting; Lundbeck Honoraria Speaking, consulting; Cyberonics Honoraria Speaking, consulting; Glaxo Smith Kline Honoraria Speaking, consulting; Pfizer Honoraria Speaking, consulting; Sleepmed/DigiTrace Honoraria Speaking, consulting

Chief Editor

Amy Kao, MD  Attending Neurologist, Children's National Medical Center, Washington DC

Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, and Child Neurology Society

Disclosure: Nothing to disclose.

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A child with Sturge-Weber syndrome with bilateral facial port-wine stain.
Cranial CT scan showing calcifications.
MRI image in Sturge-Weber syndrome.
Single-photon emission computed tomographic scan in Sturge-Weber syndrome.
Single-photon emission computed tomographic scan in Sturge-Weber syndrome.
Table 1. Clinical Manifestations of Sturge-Weber Syndrome
Risk of SWS with facial PWS8%
SWS without facial nevus13%
Bilateral cerebral involvement15%
Seizures72-93%
Hemiparesis25-56%
Hemianopia44%
Headaches44-62%
Developmental delay and mental retardation50-75%
Glaucoma30-71%
Choroidal hemangioma40%
Table 2. Developmental Morbidity Associated with Seizures in Adults with SWS
With Seizures (%) Without Seizures (%)
Developmental delay450
Emotional/behavioral problems8558
Need for special education710
Employability4678
Table 3. Summary of Work-up Findings in Sturge-Weber Syndrome
CSF analysisElevated protein
Skull x-rayTram-track calcifications
AngiographyLack of superficial cortical veins



Nonfilling dural sinuses



Abnormal, tortuous vessels



CT scanCalcifications, tram-track calcifications



Cortical atrophy



Abnormal draining veins



Enlarged choroid plexus



Blood-brain barrier breakdown (during seizures)



Contrast enhancement



MRIGadolinium enhancement of LA



Enlarged choroid plexus



Sinovenous occlusion



Cortical atrophy



Accelerated myelination



SPECTHyperperfusion, early



Hypoperfusion, late



PETHypometabolism
EEGReduced background activity



Polymorphic delta activity



Epileptiform features



Table 4. Seizure Control in Sturge-Weber Syndrome
Study Complete Partial Refractory/No Control
Gilly et al[94] NA*NA37%
Sujanski and Conradi[37]



(adults)



27%49%24%
Sujanski and Conradi[37, 17] (all ages) 50%39%11%
Pascual-Castroviejo et al[34] 47%12%28%
Oakes[26] 10%NA83%
Sassower et al[73] NANA43%
Arzimanoglou and Aicardi[92] NANA39%
Erba and Cavazzuti[24] 50%NANA
Toronto[77, 90] NANA32%
*NA = not available
Table 5. Surgical Results of Hemispherectomy and Limited Resection from 3 Centers
Center Hemispherectomy Seizure Free Limited resection Seizure Free Improved
Toronto12111182
Paris551578
Boston98630
Total2624321810
24 of 26 patients with hemispherectomy - Seizure free
28 of 32 patients with limited resection - Seizure free or improved
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