eMedicine Specialties > Ophthalmology > Phakomatoses

Sturge-Weber Syndrome: Differential Diagnoses & Workup

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
Coauthor(s): 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
Contributor Information and Disclosures

Updated: Feb 19, 2010

Differential Diagnoses

Hemangioma, Capillary

Other Problems to Be Considered

The following disorders with similar clinical presentation to Sturge-Weber syndrome (SWS) must be included in the differential diagnosis:

• Klippel-Trenaunay-Weber syndrome consists of port-wine stains of the extremities and face, as well as hemihypertrophy of soft and bony tissues, in addition to all the characteristics of Sturge-Weber syndrome. This syndrome is sporadic as is Sturge-Weber syndrome. Also, in Klippel-Trenaunay-Weber syndrome, an association is noted between hemihypertrophy and solid visceral tumors, most commonly affecting the kidney, adrenal gland, or liver.
• Beckwith-Wiedemann syndrome consists of a facial port-wine stain, macroglossia, omphalocele, and visceral hyperplasia. A risk of visceral neoplasia is also noted. Severe hypoglycemia resulting from pancreatic islet-cell hyperplasia is very common and may be life-threatening.

Neuroimaging findings similar to Sturge-Weber syndrome may be found in several conditions and should be considered in the differential diagnosis, to include the following:

• Dyke-Davidoff-Masson syndrome is a condition in which one cerebral hemisphere is partially or completely atrophic as a result of an intrauterine or perinatal carotid artery infarction. Since the cerebral atrophy in Sturge-Weber syndrome also occurs during infancy, changes similar to those of the Dyke-Davidoff-Masson syndrome, including cerebral hemiatrophy with ipsilateral calvarial diploic space enlargement, may be seen.
• Severe siderosis, prior to the injection of contrast material, has MRI findings similar to those in Sturge-Weber syndrome with cerebral hemiatrophy. The typical contrast enhancement and the abnormal veins seen with contrast injection easily separate these two conditions.
• Calcification secondary to intrathecal methotrexate therapy and meningitis also must be included in the CT differential diagnosis of cortical pattern calcification. However, neither of these would demonstrate the unilateral specific geographic localization. When assessing the status of a uveal mass in a patient with Sturge-Weber syndrome, the ophthalmologist must consider the possibility that the lesion may be something other than a choroidal hemangioma.
• The major clinical difficulty can be separating a hemangioma of the choroid from a choroidal melanoma. A few patients with Sturge-Weber syndrome have developed a choroidal tumor in the eye ipsilateral to the nevus flammeus that eventually proved to be a malignant melanoma rather than a hemangioma. Simultaneous occurrence of uveal melanoma and choroidal hemangioma in a patient with Sturge-Weber syndrome also has been described. The reddish orange color of choroidal hemangiomas as viewed with a binocular indirect ophthalmoscope is an important diagnostic sign that differentiates them from white or creamy appearance of metastatic carcinomas and amelanotic melanomas. When uveal melanoma is suspected, fluorescein angiography and A-scan and B-scan ultrasonography are essential.
• Other orange fundus tumors that must be considered in the differential diagnosis of a diffuse choroidal hemangioma include serous or partly organized detachment of the retinal pigment epithelium, osteoma of the choroid, nodular scleritis, and exophytic retinal capillary hemangioma.

Workup

Imaging Studies

• Neuroimaging can confirm CNS involvement. MRI has been reported to be superior to CT scan 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. Examples of MRI findings are shown in the images below.
  • 
    

    

    Same patient as in Media file 1. T1-weighted axial MRI images demonstrate left cerebral hemiatrophy associated with leptomengeal angiomatosis. Image courtesy of Dr. Lamia Salah Elewa.

    [ CLOSE WINDOW ]

    

    Same patient as in Media file 1. T1-weighted axial MRI images demonstrate left cerebral hemiatrophy associated with leptomengeal angiomatosis. Image courtesy of Dr. Lamia Salah Elewa.

  • 
    

    

    Same patient as in Media file 1. Ocular ultrasound image of the posterior segment demonstrating the diffuse choroidal thickening seen in the diffuse choroidal hemangioma with "tomato-catsup fundus." Image courtesy of Dr. Lamia Salah Elewa.

    [ CLOSE WINDOW ]

    

    Same patient as in Media file 1. Ocular ultrasound image of the posterior segment demonstrating the diffuse choroidal thickening seen in the diffuse choroidal hemangioma with "tomato-catsup fundus." Image courtesy of Dr. Lamia Salah Elewa.

  • On the other hand, CT scan 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.

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.
• 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.

Procedures

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

• Search for CME/CE on This Topic »

• Sturge-Weber Syndrome (Neurology)
• Sturge-Weber Syndrome (Radiology)
• Skin Tumors, Vascular Lesions, Face and Neck (Otolaryngology and Facial Plastic Surgery)
• Pheochromocytoma (Endocrinology)

• A 7-Week-Old Infant With a Large Facial Hemangioma
• How Do You Determine Down Syndrome When Considering Adoption From Another Country?