Encephalotrigeminal Angiomatosis

Encephalotrigeminal Angiomatosis

Encephalotrigeminal Angiomatosis which is also known as Sturge-Weber syndrome is an innate disorder that is characterized by a distinct vascular birthmark as well as neurological anomalies. This condition might be inclusive of eye and other internal organ anomalies.

Signs and Symptoms

Encephalotrigeminal Angiomatosis is commonly diagnosed clinically. The clinical diagnose is typically based on the central nervous system, cutaneous, and other ocular abnormalities related to the condition. Some of the neurologic symptoms include;

  • Learning problems
  • Mental retardation
  • Developmental delay
  • Attention deficit or hyperactivity disorder

Physical signs associated with Encephalotrigeminal Angiomatosis include;

  • Ocular manifestations
  • Macrocephaly
  • Soft-tissue hypertrophy
  • Visual loss
  • Hemiparesis
  • Hemianopsia
  • PWS

Involvement of ocular in Encephalotrigeminal Angiomatosis might include signs such as;

  • Glaucoma
  • Hemangiomalike or apparent changes on the eyelids
  • Buphthalmos

Causes of Encephalotrigeminal Angiomatosis

The condition occurs sporadically. It’s generally not genetic and therefore can’t be passed to children by the parents. It usually starts quite early during pregnancy as the infant is developing inside the womb. Basically at 6 to 9 weeks during pregnancy the body tissues responsible for brain and skin formation are closely associated.

Experts suggest that the blood vessels network keeps developing instead of unraveling, resulting in formation of another blood vessel layer on the brain surface.

How common is Encephalotrigeminal Angiomatosis?

It is exactly not known how many individuals are affected by this condition but it’s only known to be a rare condition. The condition affects both girls and boys alike. Kids with the characteristic ‘port wine stain’ appearing on the forehead or either side of the scalp are quite likely to be having this condition.

Encephalotrigeminal Angiomatosis

Diagnosing Encephalotrigeminal Angiomatosis

If a child’s scalp or forehead has the port wine stain, they will need a pediatrician to check him or her. MRI scans including a gadolinium are used to determine a diagnosis. It’s basically similar to a normal MRI scan just that the child will have to be injected with gadolinium beforehand. A gadolinium injection ensures the blood vessels get displayed better during the scan. If the diagnosis is determined then a pediatrician and the pediatric neurologist can work together to work out the problem.

Other Manifestations

Glaucoma or high pressure around the eyes is one of the conditions that are apparent at birth time or show up later. The occurrence of the glaucoma in persons with the Encephalotrigeminal Angiomatosis is said to be about 40% and 70% in choroidal lesions. Glaucoma is normally limited to the eye covered by the stain. Also eye enlargement (buphthalmos) is also a common occurrence for the stain affected eye. Numerous other bodily organs are less affected by the condition.


Treatment by way of laser is employed to get rid of and/or lighten the birthmarks for children as little as a month old. By use of anti-convulsants, seizures can easily be controlled. Also a brain surgery as well as VNS implants can be employed to assist in seizure management. Oral medications or eye drops can be used to help manage glaucoma. Should all the oral and topical administered medications fail to be effective, then the only other option would certainly be surgery.