Sturge-Weber Syndrome

Topics: Sturge-Weber syndrome, Port-wine stain, Frederick Parkes Weber Pages: 3 (985 words) Published: August 22, 2013
Sturge-Weber Syndrome
Sturge–Weber Syndrome (SWS), also referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is often associated with port-wine stains of the face, glaucoma, seizures, mental retardation, and ipsilateralleptomeningeal angioma. It is characterized by abnormal blood vessels on the brain surface. Normally, only one side of the brain is affected. SWS is an embryonal developmental anomaly resulting from errors in mesodermal and ectodermal development. SWS occurs sporadically and does not have a hereditary etiology. It is caused by a somatic activating mutation occurring in the GNAQ (Guanine nucleotide-binding protein G(q) subunit alpha) gene. Historical and Neurobiological Aspects

William Allen Sturge, (1850-1919)
oIn 1879, case of 6 year old female: presented with good health until the age of 6 months. At this age she started experiencing twitching on the left side of her body, which in time increased in frequency and duration, as well as spread to the right side of her body. She also began losing consciousness during these episodes. The child had a mark on the right side of her face and head which was referred to as “mother’s mark”. The skin lesion involved the upper lip, nose, forehead, scalp, back of the neck, midline on the chin, upper part of the sternum, and extended as low as the third or fourth dorsal vertebra behind and the second costal cartilage in front. The lips, gums, tongue, roof of mouth, floor of mouth, uvula, and pharynx were all similarly affected on the right side. The right eye was larger (buphthalmos; congenital glaucoma) and the sclera, choroid and retina were all affected by a vascular malformation. In addition, a patch over the left eye, frontal and temporal regions. The mark was a deep purple color, with the color partially disappearing with firm pressure. Dr. Sturge termed this mark a "port-wine". He had no proof but speculated that the patient’s neurological...

References: Pearce, J. M. S. (2006). Sturge–Weber syndrome (encephalotrigeminal or leptomeningeal
angiomatosis). Journal of Neurology, Neurosurgery and Psychiatry, 77(11), 1291-1292. doi:10.1136/jnnp.2006.096578
Rare Diseases Clinical Research Network. (2012). Sturge-Weber syndrome. Retrieved from
http://rarediseasesnetwork.epi.usf.edu/BVMC/SWS/
The Hunter Nelson Sturge-Weber Center. (2012). Sturge-Weber syndrome. Retrieved from
http://sturgeweber.kennedykrieger.org/index.jsp
The Sturge-Weber Foundation. (2012). Sturge-Weber syndrome. Retrieved from
http://www.sturge-weber.org/resources/about-sws/conditions/12-sturge-weber-syndrome.html
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