《the roles of radiologic imaging in sturge-weber syndrome》.pdf

The Roles of Radiologic Imaging in Sturge-Weber Syndrome Audrey S. Wang, HMS-III BIDMC Department of Radiology May 19, 2008 Overview • Patient TR • The Phakomatoses • Sturge-Weber Syndrome – Clinical Features – Epidemiology – Pathogenesis • Patient TR: Imaging • Companion Patient RW • Summary Patient TR • Newborn baby girl with a L-sided Port-Wine Stain primarily in the V1 distribution at birth • L-sided ocular glaucoma What should we be concerned about? /clinic alservices/Site2566/mainpageS2566 P7.html Patient TR: Sturge-Weber Syndrome? She has classic features of Sturge-Weber Syndrome, a phakomatosis. The Phakomatoses • “Phakos” (Gr.) = birth mark, spot, mole • Neurocutaneous syndromes/Congenital neuroectodermal dysplasias: – Neurofibromatosis – Tuberous Sclerosis – Von Hippel Lindau – Sturge-Weber Syndrome (SWS) • the only phakomatosis that is NOT associated with intracranial neoplasms (Di Rocco and Tamburrini, 2006) SWS: Classic Clinical Features • Encephalotrigeminal angiomatosis: – Capillary-venous malformation (leptomeningeal angiomatosis) – Facial port-wine stain (PWS or nevus flammeus) in trigeminal V1-V3 distribution – Congenital glaucoma – Intractable epilepsy – Progressive mental /clinic retardation alservices/Site2566/mainpageS2566 P7.html SWS: Epidemiology • Rare (estimated 1/50,000 live birt