What is the pathophysiology of Sturge-Weber syndrome (SWS)?

Updated: Dec 26, 2018
  • Author: Masanori Takeoka, MD; Chief Editor: George I Jallo, MD  more...
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Answer

From a review of pathologic specimens, Norman and Schoene thought that blood flow abnormalities in the LA caused increased capillary permeability, stasis, and anoxia. [17] Garcia et al and Gomez and Bebin reported that venous occlusion may actually cause the initial neurologic event, either a seizure, transient hemiparesis, or both, thereby beginning the process. [18, 19]

A "vascular steal phenomenon" may develop around the angioma, resulting in cortical ischemia. Recurrent seizures, status epilepticus, intractable seizures, and recurrent vascular events may aggravate this steal further, with an increase in cortical ischemia, resulting in progressive calcification, gliosis, and atrophy, which in turn increase the chance of seizures and neurologic deterioration. [20, 21]

Disease progression and neurological deterioration may occur in SWS. Although the actual LA is typically a static anatomic lesion, Maria et al, Reid et al, and Sujansky and Conradi have clearly documented the progressive nature of SWS. [22, 23, 24]

Udani et al followed the natural disease course and magnetic resonance imaging (MRI) findings of 9 patients with SWS. They found that earlier onset seizures correlated with more residual neurologic deficits and worse focal cerebral atrophy and that in most cases the course stabilized after age 5 years. [25]

Seizure control, aspirin therapy, and early surgical treatment may prevent neurological deterioration. [1]

The main ocular manifestations (ie, buphthalmos, glaucoma) occur secondary to increased IOP with mechanical obstruction of the angle of the eye, elevated episcleral venous pressure, or increased secretion of aqueous fluid.


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