Sturge-Weber syndrome (SWS), also known as encephalotrigeminal angiomatosis is a neurocutaneous syndrome with angiomas of the ophthalmic and trigeminal distribution of the 5th nerve (port-wine stain) and of the leptomeninges.
This is due to failure of regression of embryonic blood vessels.
The cause of this is uncertain, but there are reports of mosaicism in certain patients with SWS.
Inheritance is sporadic.
It occurs in about 1 in 50,000 patients and is bilateral in 15-20%.
Symptoms include seizures, focal hemianopsia and hemiparesis, (sometimes transient), headache and developmental delay.
Complications include buphthalmos ( large eye) and glaucoma.
Treatment consists of seizure control with medication and occasionally surgery, glaucoma medication or surgery, laser therapy for port-wine stain, and preventive or abortive therapy for headache.
Imaging demonstates the leptomeningeal angioma on radiograph or CT with tram-track calcifications.
The enhancing leptomeningeal angioma is better seen with MR.
Other signs include delayed myelination, loss of brain volume, large lateral ventricle, decreased cortical veins and enlarged choroid plexus in the ipsilateral hemisphere.
Patients may develop calcification of the brain parenchyma adjacent to the angioma.
MR spectroscopy shows elevated choline and decreased NAA.
Perfusion of the involved hemisphere may be altered.
Recognize that patients may have SWS with leptomeningeal angiomas, but no port-wine stain. In addition, patients with port-wine stain do not always have SWS.
Classification:
Type 1: Leptomeningeal plus facial±glaucoma
Type 2: Facial only±glaucoma
Type 3: Leptomeningeal only
TAKE HOME MESSAGE:If ipsilateral choroid plexus engorgement may be only finding in first 6 months of life.If both sides enlarged, look for bilateral involvement ( may be subtle)