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Key Features

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  • Port-wine birthmark

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

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Clinical Findings

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  • 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

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Diagnosis

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  • 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

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Treatment

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  • 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

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