Sturge-Weber Syndrome and its Manifestations in Skin, Brain, and Eyes
Sturge-Weber Syndrome (SWS) is a non-inherited genetic disorder that results in malformation of vasculature of brain, eyes, and skin. It presents with classic triad: 1. Facial port wine nevus 2. Ipsilateral leptomeningeal angioma 3. Glaucoma Sturge-Weber arises due to somatic mutation in GNAQ gene, which subsequently impairs signaling pathways. This gene is involved in regulation of development of blood vessels; however, mutation results in defective regulation and subsequent increased growth of blood vessel. STURGE-WEBER SYNDROME MANIFESTATION IN SKIN: Majority of people having SWS have a port wine birthmark. This is usually present on forehead, eyelid, or temple. It is a flat lesion that appears due to increased vasculature and dilatation near the skin. The color ranges from With time, this port wine stain may darken and thicken. STURGE-WEBER MANIFESTATION IN BRAIN: SWS typically affects vasculature of leptomeninges, consequently disturbing the blood supply to brain, resulting in atrophy and calcification of brain matter. People with SWS suffer from stroke-like episodes, causing transient hemiparesis, focal seizures, headaches, and disturbed vision. Over time, SWS results in cognitive disability and usually cause learning impairment similar to ADHD. STURGE-WEBER MANIFESTATION IN EYES: Eye disorder in SWS typically manifest as glaucoma, resulting in loss of vision in infancy or early adulthood. Due to increased intraocular pressure, the eyeballs appear large and bulged out. The manifestation of SWS in eye usually affect the same side as the port wine stain. Source Sturge-Weber syndrome https://medlineplus.gov/genetics/condition/sturge-weber-syndrome/#causes Image via - https://radiopaedia.org/articles/sturge-weber-syndrome-1 - https://emedicine.medscape.com/article/1177523-overview