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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?

Where does the port wine stain most commonly occur in Sturge-Weber syndrome?

Fig. 5.8 Sturge-Weber syndrome. The bilateral port wine stain involves the left V1, V2, and V3 regions and right V3 region.

The port wine stain most commonly involves the areas innervated by the ophthalmic (V1) and maxillary (V2) divisions of the trigeminal nerve. In virtually all cases, some portion of the forehead, upper eyelid, and nasal root (V1) is involved. The port wine stain may be bilateral (Fig. 5-8) and may involve nasal or oral mucosa. Port wine stains are present on the extremities or trunk in addition to the face in 40% of cases.

Tallman B, Tan OT, Morelli JG, et al: Location of port wine stains and the likelihood of ophthalmic and/or central nervous system complications, Pediatrics 87:323–327, 1991.