Sturge-weber syndrome: a unified pathophysiologic mechanism
1Cameron F. Parsa, MD Wilmer Ophthalmological Institute, 600 North Wolfe Street, Wilmer 233, Baltimore, MD 21287-9028, USA. cparsa@jhmi.edu.
Abstract:
According to a new, unifying view of the pathogenesis of Sturge-Weber syndrome and related syndromes, signs and symptoms all 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. Symptoms depend upon the extent and location of the venous dysplasia. 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. This new understanding of underlying pathophysiology also elucidates the mechanism for 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.
Related Concept Videos
Cushing Syndrome II: Pathophysiology
Gastritis-II: Pathophysiology
In acute gastritis, the gastric mucosa becomes swollen and red and undergoes superficial erosion. Superficial ulceration may lead to bleeding.
In chronic gastritis, persistent or repeated insults lead to chronic inflammatory changes and, eventually, thinning or atrophy of the gastric tissue.
Gastritis can stem from various causes, each...
Gastritis II: Pathophysiology
Pulmonary Hypertension: Classification and Pathogenesis
There are various classifications for PH, each relating to different underlying causes and also...
Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Gastroesophageal Reflux Disease I: Meaning and Pathophysiology

