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Neurocutaneous Disorders

Sturge-Weber Syndrome
»	Name the two essential components of the Sturge-Weber syndrome.
»	What is the inheritance of the Sturge-Weber syndrome?
»	Where does the port wine stain most commonly occur in Sturge-Weber syndrome?
»	What are the complications of leptomeningeal angiomatosis?
»	When does epilepsy usually begin in the Sturge-Weber syndrome?
»	Can the extent of neurologic involvement be predicted from the size of the facial port wine stain?
»	What investigations confirm leptomeningeal angiomatosis?
»	Do ocular complications occur in the Sturge-Weber syndrome?
»	How can the facial port wine stain be treated?
»	In what other neurocutaneous disorders do facial or occipitocervical port wine stains occur?
»	What is the inheritance of ataxia-telangiectasia?
»	What is the earliest clinical sign of ataxia-telangiectasia?
»	Name the typical skin sign of ataxia-telangiectasia.
»	What are the two most common causes of death in ataxia-telangiectasia?

Do ocular complications occur in the Sturge-Weber syndrome?

Ocular complications occur in 30% to 60% of cases and include capillary malformations of the conjunctiva, iris, and choroid (ipsilateral to the facial port wine stain), glaucoma, and megalocornea. These complications may be associated only with a facial port wine stain involving the V1 distribution and do not necessarily imply CNS involvement. Glaucoma most commonly begins in the first 2 years of life; hence, regular ophthalmologic review from birth is vital in patients with V1 port wine stains.