Sturge-Weber syndrome


A sporadic congenital neurocutaneous disorder manifested by a port-wine stain affecting the skin in the distribution of the ophthalmic branch of the trigeminal nerve, abnormal capillary venous vessels in the leptomeninges of the brain and choroid, glaucoma, seizures, stroke and intellectual impairment.

Ref2242ed to as encephalotrigeminal angiomatosis, is a neurocutaneous syndrome characterized by a facial nevus and underlying venous malformation in the brain, most prominent in the occipital cortex.

Complications include partial epilepsy, glaucoma, cognitive decline, and migraine.

Other common symptoms include seizures, stroke-like spells, hemiparesis, headache, cognitive decline, and psychological trauma.

Associated with a unilateral nevus flammeus in most instances.

10% to 30% have bilateral facial lesions.

Nevi associated with Sturge-Weber syndrome are present at birth.

In a small number of patients, facial involvement is absent, but imaging reveals leptomeningeal angiomas.

Unilateral, and rarely bilateral, choroidal hemangiomas have been reported.

Fluorescein angiography delineates the lesions.

Caused by somatic activating mutation in GNAQ (Shirley MD et al).

Incidence is equal in males and females and occurs in approximately one in 20,000-50,000 lives.

Port-wine stains are cutaneous capillary malformation that occur in approximately three in every 1000 newborns.

Port-wine stains usually involved the head and neck.

Individuals born with a port-wine stain of the face have approximately 6% chance of having the SWS (Piram M et al).

A child with a port-wine stain the face in the distribution of the ophthalmic branch of the trigeminal nerve have a 26% chance of having the Sturgeon-Weber syndrome (Ch’ng S, Tan ST).

Treatment options for choroidal hemangiomas includie external and proton beam radiation and photodynamic therapy.

All patients require measurement of ocular pressure for possible glaucoma.

Glaucoma can occur in up to 30% of persons with this syndrome.

Choroidal hemorrhage and retinal detachment are relatively uncommon manifestations.

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