Sturge Weber syndrome

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Other Names :  

Encephalotrigeminal angiomatosis

What is Sturge Weber syndrome ?  

A rare congenital neurological and skin disorder characterized by port-wine stains of the face, glaucoma, seizures, mental retardation and cerebral malformations and tumour. Blood vessels on the brain surface are abnormal.

Cause(s) :  
  • Embryonal developmental anomaly
Symptoms :  
  • Port-wine stain on the forehead and upper eyelid of one side of the face or the whole face
  • Seizures, usually on the body opposite to the port-wine stain or birthmark
  • Some children have developmental delays and cognitive delays
  • Glaucoma
  • Increased pressure within the eye can cause the eyeball to enlarge and bulge out of the socket
Diagnosis and Tests :  
  • Newborn with a facial port-wine birthmark
  • Birthmark associated with brain or eye involvement
Specialist to consult :  Pediatrics

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