Encephalofacial Angiomatosis (Sturge-Weber Disease)

Key Features

• Port-wine birthmark

• Capillary-venous malformation in the eye (choroidal angioma) and brain (leptomeningeal angioma)

Clinical Findings

• In infancy, the eye may show congenital glaucoma, or buphthalmos, with a cloudy, enlarged cornea

• Facial nevus

  • In early stages, may be the only indication, with no findings in the brain even on radiologic studies

  • May be much more extensive than the first division of cranial nerve V; it can involve the lower face, mouth, lip, neck, and even torso

• Neurologic manifestations

  • Focal seizures are common in infancy

  • Cognitive impairment

  • Headache and migraines

  • Stroke-like symptoms

  • CNS hemorrhage (rare)

• The characteristic cortical atrophy, calcifications of the cortex, and meningeal angiomatosis may appear with time, solidifying the diagnosis

• Physical examination may show hemiparesis on the side contralateral to the cerebral lesion

• Hemiatrophy of the contralateral limbs may occur

• Mental handicap may result from poorly controlled seizures

Diagnosis

• CT scanning may show calcification of the cortex much earlier than radiographic films

• MRI often shows underlying brain involvement

• EEG

  • Often shows depression of voltage over the involved area in early stages

  • In later stages, epileptiform abnormalities may be present focally

Treatment

• Early control of seizures is important to avoid consequent developmental setback

• If seizures do not occur, normal development can be anticipated

• Careful examination of the newborn, with ophthalmologic assessment to detect early glaucoma, is indicated

• Rarely, surgical removal of the involved meninges and the involved portion of the brain may be indicated, even hemispherectomy