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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?

What is the inheritance of ataxia-telangiectasia?

An autosomal recessive gene with the defective gene located on chromosome 11q22.3; it encodes an ataxiatelangiectasia mutated gene (ATM) that is a member of the phosphotidylinositol 3–kinase family.