Sturge-Weber Syndrome Differential Diagnoses

Updated: Sep 26, 2023
  • Author: Masanori Takeoka, MD; Chief Editor: George I Jallo, MD  more...
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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:

  • Klippel-Trenaunay-Weber syndrome

  • Dyke-Davidoff-Masson syndrome

  • Siderosis

  • 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:

  • Serous or partly organized detachment of the retinal pigment epithelium

  • Osteoma of the choroid

  • Nodular scleritis

  • Exophytic retinal capillary hemangioma

Other differentials

Conditions that should also be considered in the differential diagnosis of SWS include the following:

  • Chronic headache

  • Vascular malformations and hematomas of the brain

  • Port-wine birthmark (PWB) - May be isolated, occurring without SWS

  • Arteriovenous malformation [56] - May calcify

  • Macrocephaly with SWS - Related to hydrocephalus or intracranial hypertension, secondary to the abnormal venous drainage

  • 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

  • Celiac disease - Has been associated with epilepsy with bilateral occipital calcifications [57]

  • Rendu-Osler-Weber syndrome - Hereditary hemorrhagic telangiectasia

  • von Hippel-Lindau syndrome - Cerebellar or spinal hemangioma with retinal angioblastoma, pancreatic cysts, and renal cell carcinoma

  • Wyburn-Mason syndrome - Retinal arteriovenous angioma

  • Shapiro-Shulman syndrome - Bilateral facial nevi and abnormal venous drainage

  • Divry-van Bogaert syndrome - Leptomeningeal angioma (noncalcifying) with diffuse sclerosis, progressive neurologic disorder, and livedo reticularis

  • Bannayan-Zonana syndrome - Macrocephaly, lipomatosis, and cutaneous hemangiomas

  • Cobb syndrome - Cutaneomeningospinal angiomatosis

Differential Diagnoses