« Back to Inherited Disorders

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?

What is the earliest clinical sign of ataxia-telangiectasia?

Progressive cerebellar ataxia due to degeneration of Purkinje cells, beginning at age 12 to 18 months. Choreoathetoid movements, hypotonia, dysarthria, and abnormal eye movements gradually develop, and intelligence frequently declines.

Smith SL, Conerly SL: Ataxia-telangiectasia or Louis-Bar syndrome, J Am Acad Dermatol 12:681–696, 1985.