Best Examination Tips: Medcase, Interesting Medical Cases and Pictures

  • Sunday, July 7th, 2013

Case 23/Picture 25 (12.01.2015.) Could you identify the picture?

SWS1

Answer

Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder.

It is one of the phakomatoses and is often associated with port-wine stains of the face,glaucomaseizuresmental retardation, and ipsilateral leptomeningealangioma (cerebral malformations and tumors). It is characterized by abnormal blood vessels on the brain surface. Normally, only one side of the brain is affected. Sturge-Weber is an embryonal developmental anomaly resulting from errors   in mesodermal and ectodermal development. Unlike other neurocutaneous disorders (phakomatoses), Sturge-Weber occurs sporadically (i.e., does not have a hereditary etiology). It is caused by a somatic activating mutation occurring in the GNAQ gene. Radiological findings will show tram track calcifications on CT, bilaterally.

Reference

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