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Sturge-Weber Syndrome Clinical Presentation

  • Author: Masanori Takeoka, MD; Chief Editor: Amy Kao, MD  more...
 
Updated: May 27, 2015
 

History

Sturge-Weber syndrome (SWS) is generally diagnosed on clinical grounds by the association of the typical cutaneous, CNS, and ocular abnormalities. Neurologic signs include the following:

  • Developmental delay/mental retardation
  • Learning problems
  • Attention deficit-hyperactivity disorder

Children with bisymptomatic or trisymptomatic SWS may, however, initially seem neurologically normal and have no symptoms of glaucoma or other ocular manifestations. In some instances, therefore, the diagnosis may not become clear for an extended period of time.

Progressive neurologic damage

Factors suggesting a progressive course of cortical damage in SWS include the following:

  • Initial focal seizures progressing to frequent, secondarily generalized seizures
  • Increasing seizure frequency and duration despite the use of antiepileptic drugs (AEDs)
  • Increasing duration of a transient postictal deficit
  • Increase in focal or diffuse atrophy determined by serial neuroimaging
  • Progressive increase in calcifications
  • Development of hemiparesis
  • Deterioration in cognitive functioning
Next

Physical Examination

Physical signs of SWS are as follows:

  • Port-wine stain (PWS; see the image below)
    A child with Sturge-Weber syndrome with bilateral A child with Sturge-Weber syndrome with bilateral facial port-wine stain.
  • Macrocephaly
  • Ocular manifestations
  • Soft-tissue hypertrophy
  • Hemiparesis
  • Visual loss
  • Hemianopsia

When a typical facial vascular skin lesion is found in a newborn, it should alert the physician to perform a complete ophthalmic and systemic assessment for the potentially serious associated disorders.

Cutaneous lesions

The cutaneous venous facial lesion is usually the first component of the syndrome to be observed, because it is visible at birth. It may be very pale at first, but it usually becomes darker with age. However, the lesion does not increase in extent. PWS is not a medically threatening condition, but because it is a cosmetic deformity, it may carry a psychological impact.

Ocular changes

Ocular involvement in SWS may include the following signs:

  • Hemangiomalike, superficial changes (which on histology demonstrate only venous dilation) in the eyelid
  • Buphthalmos
  • Glaucoma
  • Tomato-catsup color of the fundus (ipsilateral to the nevus flammeus) with glaucoma
  • Conjunctival and episcleral hemangiomas
  • Diffuse choroidal hemangiomas
  • Heterochromia of the irides
  • Tortuous retinal vessels with occasional arteriovenous communications
  • Ocular signs that may indicate the presence of infantile glaucoma include the following:
  • Corneal diameter of more than 12 mm during the first year of life
  • Corneal edema
  • Tears in the Descemet membrane (Haab striae)
  • Unilateral or bilateral myopic shift
  • Optic nerve cupping greater than 0.3
  • Any cup asymmetry associated with intraocular pressure above the high teens
  • Optic nerve damage resulting in myopia, anisometropia, amblyopia, strabismus, and visual field defects

Increased conjunctival vascularity can be seen on slit lamp examination or can be viewed by the naked eye as a pinkish discoloration. The abnormal plexus of episcleral vessels may be hidden by the overlying tissue of the Tenon capsule in infancy and only appreciated clinically in later childhood.

Prominent, tortuous conjunctival and episcleral vascular plexuses affect as many as 70% of patients with SWS and often correlate with increased episcleral venous pressure, probably resulting from arteriovenous shunts within the episcleral hemangiomas. The overlying retinal vessels may be affected, demonstrating dilation and tortuosity, as well as peripheral arteriovenous communications.

Iris heterochromia occurs in approximately 10% of patients with SWS. The more deeply pigmented iris usually is ipsilateral to the PWS, signifying an increase in melanocyte number or activity.

The diagnosis of diffuse choroidal hemangioma is based on tumor appearance on indirect binocular ophthalmoscopy.

Several possible mechanisms may be responsible for decrease in visual function in patients with SWS. As soon as the syndrome is first suspected or documented, a complete ophthalmic evaluation is essential to rule out glaucoma, since the infant's eye is damaged quickly by increased intraocular pressure. The earlier glaucoma is documented and the more effectively it is controlled, the less likely secondary glaucomatous changes will occur.

Amblyopia

Amblyopia is an important cause of poor vision in patients with infantile glaucoma. Amblyopia usually is anisometropic from glaucoma-induced myopia or secondary to unilateral or bilateral pattern deprivation caused by cloudy corneas. Even when glaucomatous optic nerve damage is present, amblyopia may be superimposed on the organic damage. Therefore, a trial of amblyopia therapy is indicated.

Choroidal hemangioma

Diffuse choroidal hemangioma is present in as many as 40-50% of patients with SWS. A circumscribed, isolated form occurs in otherwise normal adults. It is almost always unilateral and ipsilateral to the PWI, but bilateral cases associated with bilateral nevus flammeus have been described. (See the image below.)

Circumscribed hemangioma. Image courtesy of F. Rya Circumscribed hemangioma. Image courtesy of F. Ryan Prall, MD.

Choroidal hemangiomas are flat, commonly covering over one half of the fundus, involving the posterior pole, and extending into the equatorial zone. Diffuse involvement of the entire uvea may be seen. In some cases, the extent and character of the pathognomonic choroidal vascular lesion results in a striking reddish glow, to which the descriptive term tomato-catsup fundus has been applied (see the images below). Some patients have a focal area (often paramacular) where the angioma is more thickened and elevated.

Ocular ultrasonogram of the posterior segment demo Ocular ultrasonogram of the posterior segment demonstrating the diffuse choroidal thickening seen in a diffuse choroidal hemangioma with "tomato-catsup fundus." Image courtesy of Dr. Lamia Salah Elewa.
Choroidal hemangioma. Image courtesy of Thomas M. Choroidal hemangioma. Image courtesy of Thomas M. Aaberg, Jr, MD.

The choroidal angiomatosis grows slowly and usually remains asymptomatic in childhood. During adolescence or adulthood, marked thickening of the choroid sometimes becomes evident with secondary changes to overlying ocular structures.

Retinal changes

Changes in the overlying retinal pigment epithelium overlying the choroidal hemangioma range from mild atrophy to focal proliferation with drusen formation to severe fibrous transformation and focal ossification. The retina over the hemangioma may be attached and well preserved, attached and degenerated, or detached.

Degenerative changes in the overlying retina include focal chorioretinal adhesions, loss of photoreceptors, severe cystoid degeneration of the outer layers, and marked gliosis. Widespread serous detachment, retinal leakage, and edema may occur. In its early stages, the choroidal thickening and elevation of the retina may produce an increasing ipsilateral hyperopia. With progression of secondary changes, visual loss and visual field defects may develop. Subretinal fibrosis in the macular area and cystoid macular edema are associated with the most severe visual loss.

Glaucoma

Glaucoma is almost always unilateral and ipsilateral to the PWS, although contralateral or bilateral glaucoma with unilateral cutaneous lesions has been reported. The occurrence of glaucoma has been especially noted when the facial skin changes involve the upper and lower eyelids.

Glaucomatous damage, as well as degenerative changes in the outer retinal layers and vascular abnormalities in the occipital lobe, may cause visual field defects. Careful visual field perimetry is indicated.

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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, Boston Children's Hospital

Masanori Takeoka, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, American Medical Association, Child Neurology Society, 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: Partner received royalty from Up To Date for section editor.

Chief Editor

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

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

Disclosure: Have stock from Cellectar Biosciences; have stock from Varian medical systems; have stock from Express Scripts.

Acknowledgements

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.

Gerhard W Cibis, MD Clinical Professor, Director of Pediatric Ophthalmology Service, Department of Ophthalmology, University of Kansas School of Medicine

Gerhard W Cibis, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for Pediatric Ophthalmology and Strabismus, and American Ophthalmological Society

Disclosure: Nothing to disclose.

Monte A Del Monte, MD Skillman Professor of Pediatric Ophthalmology, Professor of Ophthalmology, Pediatrics and Communicable Diseases, Director of Pediatric Ophthalmology and Strabismus, W K Kellogg Eye Center, University of Michigan Medical School

Monte A Del Monte, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Ophthalmology, American Association for Pediatric Ophthalmology and Strabismus, American Medical Association, Association for Research in Vision and Ophthalmology, International Society for Genetic Eye Diseases and Retinoblastoma, Pan-American Association of Ophthalmology, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Maya Eibschitz-Tsimhoni, MD Assistant Professor of Ophthalmology, Pediatric Ophthalmology and Adult Strabismus, Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan Medical Center

Disclosure: Nothing to disclose.

J James Rowsey, MD Former Director of Corneal Services, St Luke's Cataract and Laser Institute

J James Rowsey, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for the Advancement of Science, American Medical Association, Association for Research in Vision and Ophthalmology, Florida Medical Association, Pan-American Association of Ophthalmology, Sigma Xi, and Southern Medical Association

Disclosure: Nothing to disclose.

Hampton Roy Sr, MD Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, and Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Michael Taravella, MD Director of Cornea and Refractive Surgery, Rocky Mountain Lions Eye Institute; Professor, Department of Ophthalmology, University of Colorado School of Medicine

Michael Taravella, MD is a member of the following medical societies: American Academy of Ophthalmology, American Medical Association, American Society of Cataract and Refractive Surgery, Contact Lens Association of Ophthalmologists, and Eye Bank Association of America

Disclosure: AMO/VISX None Consulting

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

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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.
A child with Sturge-Weber syndrome that primarily affects the distribution of cranial nerve V2-3, with milder involvement of cranial nerve V1. Secondary glaucoma is evident. Ocular melanocytosis involving the sclera of both eyes is an associated finding. Image courtesy of Dr. Lamia Salah Elewa.
Close-up view of the left eye, showing the Ahmed valve implanted in the inferotemporal quadrant after multiple failed filtration procedures induced severe superior conjunctival scarring. Intraocular pressure (IOP) was controlled. Image courtesy of Dr. Lamia Salah Elewa.
T1-weighted, axial magnetic resonance imaging (MRI) scans demonstrate left cerebral hemiatrophy associated with leptomeningeal angiomatosis. Image courtesy of Dr. Lamia Salah Elewa.
Ocular ultrasonogram of the posterior segment demonstrating the diffuse choroidal thickening seen in a diffuse choroidal hemangioma with "tomato-catsup fundus." Image courtesy of Dr. Lamia Salah Elewa.
Choroidal hemangioma. Image courtesy of Thomas M. Aaberg, Jr, MD.
Choroidal hemangioma. Image courtesy of Thomas M. Aaberg, Jr, MD.
Circumscribed hemangioma. Image courtesy of F. Ryan Prall, MD.
Circumscribed hemangioma. Image courtesy of F. Ryan Prall, MD.
B-scan of a choroidal hemangioma showing medium to high internal reflectivity. This is a circumscribed choroidal hemangioma. The patient was not diagnosed with Sturge-Weber Syndrome. Image courtesy of Abdhish R Bhavsar, MD.
Table 1. Clinical Manifestations of Sturge-Weber Syndrome
Clinical Manifestation Incidence Rate
Risk of SWS with facial PWS 8%
SWS without facial nevus 13%
Bilateral cerebral involvement 15%
Seizures 72-93%
Hemiparesis 25-56%
Hemianopia 44%
Headaches 44-62%
Developmental delay and mental retardation 50-75%
Glaucoma 30-71%
Choroidal hemangioma 40%
Table 2. Developmental Morbidity Associated with Seizures in Adults with SWS
  With Seizures (%) Without Seizures (%)
Developmental delay 45 0
Emotional/behavioral problems 85 58
Need for special education 71 0
Employability 46 78
Table 3. Summary of Work-up Findings in Sturge-Weber Syndrome
Procedure Findings
CSF analysis Elevated protein
Skull radiography Tram-track calcifications
Angiography Lack of superficial cortical veins



Non-filling dural sinuses



Abnormal, tortuous vessels



CT scanning Calcifications, tram-track calcifications



Cortical atrophy



Abnormal draining veins



Enlarged choroid plexus



Blood-brain barrier breakdown (during seizures)



Contrast enhancement



MRI Gadolinium enhancement of leptomeningeal angiomas (LAs)



Enlarged choroid plexus



Sinovenous occlusion



Cortical atrophy



Accelerated myelination



SPECT scanning Hyperperfusion, early



Hypoperfusion, late



PET scanning Hypometabolism
Electroencephalography (EEG) Reduced background activity



Polymorphic delta activity



Epileptiform features



Table 4. Seizure Control in Sturge-Weber Syndrome
Study Complete Partial Refractory/No Control
Gilly et al[95] NA* NA 37%
Sujanski and Conradi[42]



(adults)



27% 49% 24%
Sujanski and Conradi[25, 42] (all ages) 50% 39% 11%
Pascual-Castroviejo et al[39] 47% 12% 28%
Oakes[38] 10% NA 83%
Sassower et al[87] NA NA 43%
Arzimanoglou and Aicardi[94] NA NA 39%
Erba and Cavazzuti[40] 50% NA NA
Toronto[90, 96] NA NA 32%
*NA = not available
Table 5. Surgical Results of Hemispherectomy and Limited Resection from 3 Centers
Center Hemispherectomy Seizure Free Limited resection Seizure Free Improved
Toronto 12 11 11 8 2
Paris 5 5 15 7 8
Boston 9 8 6 3 0
Total 26 24 32 18 10
24 of 26 patients with hemispherectomy - Seizure free



28 of 32 patients with limited resection - Seizure free or improved



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