Sturge-Weber Syndrome Workup

  • Author: Monte A Del Monte, MD; Chief Editor: Hampton Roy Sr, MD   more...
 
Updated: Mar 20, 2012
 

Approach Considerations

As previously stated, as soon as Sturge-Weber syndrome is first suspected or documented, a complete ophthalmologic 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, including buphthalmos, increased corneal diameter, tears in the Descemet membrane, corneal edema, and optic nerve damage resulting in myopia, anisometropia, amblyopia, strabismus, and visual field defects.

In young patients, examination under anesthesia or deep sedation is necessary to confirm the diagnosis of glaucoma. Careful assessment of intraocular pressure, corneal diameter, cycloplegic refraction, axial length, gonioscopy, and optic nerve cupping, in each eye, is mandatory.

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CT Scanning and MRI

Neuroimaging can confirm CNS involvement. MRI has been reported to be superior to CT scanning in detecting the malformations affecting the CNS in Sturge-Weber syndrome. However, the diagnosis is often obvious on plain skull radiography.

MRI allows recognition of abnormalities, including abnormal venous drainage and abnormal pial contrast enhancement, associated with the Sturge-Weber syndrome angiomatous malformation that can confirm the diagnosis, even in very young children.

MRI also demonstrates cerebral volume reduction and ipsilateral choroid plexus enlargement. In addition, intravenous contrast can demonstrate the curvilinear posterior contrast enhancement of ocular choroidal angiomas. (An example of MRI findings is shown in the image below.)

T1-weighted, axial MRI images demonstrate left cerT1-weighted, axial MRI images demonstrate left cerebral hemiatrophy associated with leptomeningeal angiomatosis. Image courtesy of Dr. Lamia Salah Elewa.

On the other hand, CT scanning is superior to MRI in detecting the characteristic double-lined gyriform pattern of calcifications paralleling cerebral convolutions, referred to by radiologists as the railroad track sign. However, these calcifications are usually not detectable before age 1 year and may not be seen for several years.

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Other Tests

In the diagnosis of diffuse choroidal hemangioma, A-scan and B-scan ultrasonography may be useful diagnostic aids. B-scan ultrasonography characteristically shows a solid echogenic mass, whereas A-scan ultrasonography demonstrates high internal reflectivity. See the ultrasound images below.

Choroidal hemangioma. Image courtesy of Thomas M. Choroidal hemangioma. Image courtesy of Thomas M. Aaberg, Jr, MD. Circumscribed hemangioma. Image courtesy of F. RyaCircumscribed hemangioma. Image courtesy of F. Ryan Prall, MD. B-scan of a choroidal hemangioma showing medium-toB-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.

Fluorescein angiography has become a useful complementary examination. Angiography may reveal only an exaggerated background choroidal fluorescence early in the disease, widespread and irregular areas of hyperfluorescence secondary to diffuse leakage of dye from the surface of the tumor during the later stages of angiography, or even a diffuse, multiloculated pattern of fluorescein accumulation in the outer retina characteristic of polycystic degeneration and edema in more advanced disease.

Diffuse choroidal hemangioma may be overlooked easily on ophthalmoscopic examination because the color of the hemangioma resembles that of normal fundus, and the elevation may be minimal, especially in children.

Comparison of the red reflex with the normal opposite eye can be helpful in confirming the diagnosis of a diffuse choroidal hemangioma; the normal eye may appear less orange.

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Contributor Information and Disclosures
Author

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.

Coauthor(s)

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

Chief Editor

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.

Additional Contributors

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.

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.

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

References

  1. [Guideline] American Association of Neuroscience Nurses. Care of the patient with seizures. 2nd ed. Glenview (IL): American Association of Neuroscience Nurses; 2007.

  2. Govori V, Gjikolli B, Ajvazi H, Morina N. Management of patient with Sturge-Weber syndrome: a case report. Cases J. Dec 23 2009;2:9394. [Medline].

  3. Parsa, CF. Sturge-Weber Syndrome:A Unifified Pathophysiologic Mechanism. Curr Treat Options Neurol. 2008;10:47-54. [Medline].

  4. Eibschitz-Tsimhoni M, Lichter PR, Del Monte MA, et al. Assessing the need for posterior sclerotomy at the time of filtering surgery in patients with Sturge-Weber syndrome. Ophthalmology. Jul 2003;110(7):1361-3. [Medline].

  5. [Best Evidence] [Guideline] Patrianakos TD, Nagao K, Walton DS. Surgical management of glaucoma with the sturge weber syndrome. Int Ophthalmol Clin. 2008;48(2):63-78. [Medline].

  6. Audren F, Abitbol O, Dureau P. Non-penetrating deep sclerectomy for glaucoma associated with Sturge-Weber syndrome. Acta Ophthalmol Scand. Oct 2006;84(5):656-60. [Medline].

  7. Sharan S, Swamy B, Taranath DA, et al. Port-wine vascular malformations and glaucoma risk in Sturge-Weber syndrome. J AAPOS. Aug 2009;13(4):374-8. [Medline].

 
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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 was controlled. Image courtesy of Dr. Lamia Salah Elewa.
T1-weighted, axial MRI images 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.
 
 
 
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