Diagnostic Considerations
The following disorders have a clinical presentation similar to that of Sturge-Weber syndrome (SWS) and must be included in the differential diagnosis:
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Klippel-Trenaunay-Weber syndrome
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Dyke-Davidoff-Masson syndrome
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Siderosis
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Calcification secondary to intrathecal methotrexate therapy and meningitis
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 of the characteristics of SWS. This syndrome is sporadic, as is SWS. 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. Rare cases in which SWS overlaps with Klippel-Trenaunay-Weber syndrome have been reported. [55]
Beckwith-Wiedemann syndrome consists of a facial port-wine birhtmark (PWB), 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.
Imaging findings in differential diagnosis
Neuroimaging findings similar to those of Sturge-Weber syndrome may be found in several conditions. For example, in Dyke-Davidoff-Masson syndrome, 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, demonstrates MRI findings similar to those seen in Sturge-Weber syndrome with cerebral hemiatrophy. However, the typical contrast enhancement and the abnormal veins seen with contrast injection easily separate these 2 conditions.
Calcification secondary to intrathecal methotrexate therapy and meningitis must be included in the differential diagnosis of cortical pattern calcification, when this is viewed on CT scans. However, neither of these would demonstrate the unilateral specific geographic localization.
Differential diagnosis of choroidal hemangiomas
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.
A major diagnostic 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 the 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 retinal abnormalities that must be considered in the differential diagnosis of a diffuse choroidal detachment include the following:
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Serous or partly organized detachment of the retinal pigment epithelium
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Osteoma of the choroid
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Nodular scleritis
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Exophytic retinal capillary hemangioma
Other differentials
Conditions that should also be considered in the differential diagnosis of SWS include the following:
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Chronic headache
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Vascular malformations and hematomas of the brain
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Port-wine birthmark (PWB) - May be isolated, occurring without SWS
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Arteriovenous malformation [56] - May calcify
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Macrocephaly with SWS - Related to hydrocephalus or intracranial hypertension, secondary to the abnormal venous drainage
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Cyst of the posterior fossa with partial cerebellar agenesis in association with facial angiomas - Angioma flat or tuberous, lies in the territory of the first division of the trigeminal nerve; may be familial
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Celiac disease - Has been associated with epilepsy with bilateral occipital calcifications [57]
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Rendu-Osler-Weber syndrome - Hereditary hemorrhagic telangiectasia
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von Hippel-Lindau syndrome - Cerebellar or spinal hemangioma with retinal angioblastoma, pancreatic cysts, and renal cell carcinoma
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Wyburn-Mason syndrome - Retinal arteriovenous angioma
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Shapiro-Shulman syndrome - Bilateral facial nevi and abnormal venous drainage
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Divry-van Bogaert syndrome - Leptomeningeal angioma (noncalcifying) with diffuse sclerosis, progressive neurologic disorder, and livedo reticularis
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Bannayan-Zonana syndrome - Macrocephaly, lipomatosis, and cutaneous hemangiomas
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Cobb syndrome - Cutaneomeningospinal angiomatosis
Differential Diagnoses
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Epilepsy and Seizures
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Hemangioma, Capillary
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Partial Epilepsies
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A child with Sturge-Weber syndrome with bilateral facial port-wine stain.
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Cranial CT scan showing calcifications.
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MRI image in Sturge-Weber syndrome.
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Single-photon emission computed tomographic scan in Sturge-Weber syndrome.
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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.
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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.
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T1-weighted, axial magnetic resonance imaging (MRI) scans demonstrate left cerebral hemiatrophy associated with leptomeningeal angiomatosis. Image courtesy of Dr. Lamia Salah Elewa.
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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.
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Choroidal hemangioma. Image courtesy of Thomas M. Aaberg, Jr, MD.
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Choroidal hemangioma. Image courtesy of Thomas M. Aaberg, Jr, MD.
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Circumscribed hemangioma. Image courtesy of F. Ryan Prall, MD.
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Circumscribed hemangioma. Image courtesy of F. Ryan Prall, MD.
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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.
Tables
- Table 1. Clinical Manifestations of Sturge-Weber Syndrome
- Table 2. Developmental Morbidity Associated with Seizures in Adults with SWS
- Table 3. Summary of Work-up Findings in Sturge-Weber Syndrome
- Table 4. Seizure Control in Sturge-Weber Syndrome
- Table 5. Surgical Results of Hemispherectomy and Limited Resection from 3 Centers
Clinical Manifestation |
Incidence Rate |
Risk of SWS with facial PWB |
8% |
SWS without facial nevus |
13% |
Bilateral cerebral involvement |
15% |
Seizures |
72-93% |
Hemiparesis |
25-56% |
Hemianopia |
44% |
Headaches |
44-62% |
Developmental delay and intellectual disability |
50-75% |
Glaucoma |
30-71% |
Choroidal hemangioma |
40% |
|
With Seizures (%) |
Without Seizures (%) |
Developmental delay |
45 |
0 |
Emotional/behavioral problems |
85 |
58 |
Need for special education |
71 |
0 |
Employability |
46 |
78 |
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 |
Study |
Complete |
Partial |
Refractory/No Control |
Gilly et al [97] |
NA* |
NA |
37% |
Sujanski and Conradi [41] (adults) |
27% |
49% |
24% |
50% |
39% |
11% |
|
Pascual-Castroviejo et al [38] |
47% |
12% |
28% |
Oakes [37] |
10% |
NA |
83% |
Sassower et al [89] |
NA |
NA |
43% |
Arzimanoglou and Aicardi [96] |
NA |
NA |
39% |
Erba and Cavazzuti [39] |
50% |
NA |
NA |
NA |
NA |
32% |
|
*NA = not available |
|||
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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- Overview
- Presentation
- DDx
- Workup
- Treatment
- Approach Considerations
- Pharmacologic Treatment of Seizures
- Pharmacologic Treatment of Glaucoma
- Headaches
- Strokelike Events
- Port-Wine Birthmark
- Surgical Treatment of Seizures
- Hemispherectomy
- Surgical Treatment of Diffuse Choroidal Hemangiomas
- Glaucoma Surgery
- Correction of Anisometropia and Strabismus
- Consultations
- Long-Term Monitoring
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- Questions & Answers
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