EPOS
European Paediatric Ophthalmological Society
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Sturge-Weber syndrome: A new, unified pathophysiologic mechanism
Parsa Cameron11Johns Hopkins University School of Medicine
Introduction: A new, unifying view of the pathogenesis of the Sturge-Weber syndrome and related syndromes is presented which differentiates these entities from actual phacomatoses. Methods: This hypothesis is supported by published data and by original observations and Doppler ultrasonographic studies of orbital venous flow in patients with the Sturge-Weber syndrome. Results: All signs and symptoms arise from localized primary venous dysplasia, with effects of venous hypertension transmitted to nearby areas via persisting communicating venous passageways and compensatory collateral venous channels. Port-wine stains result from a vascular disorder rather than a neural disorder. Conclusion: Symptoms depend upon the extent and location of the venous dysplasia. This new understanding of underlying pathophysiology also elucidates the mechanism for encountered tissue hypertrophy. Therapies aimed at obliterating port-wine stains to minimize the cosmetic blemish will reduce collateral venous blood-flow passageways. In some instances, this reduction may worsen blood stasis within the brain and potentially exacerbate neurologic symptoms. Unfortunate consequences of misleading terminology are noted.