Paula and Bobby
Parents of Lillie
What is Sturge-Weber syndrome?
It is a rare neurological syndrome. One of its identifying characteristics is a very distinctive port wine stain on the forehead, scalp or around the eye of an affected individual. This stain must be accompanied by abnormal or affected blood vessels on the brain on the same side of the head as the stain. A port wine stain alone is not Sturge-Weber syndrome.
The syndrome is often also referred to, in medical terms, as encephalotrigeminal angiomatosis.
What gene changes cause Sturge-Weber syndrome?
Mutations in the GNAQ gene are responsible for the syndrome. The syndrome is not inherited but the consequence of random or new mutations.
What are the main symptoms of Sturge-Weber syndrome?
The main symptoms of the syndrome are a port wine stain on one side of the face, and abnormal blood vessels in the brain on the same side of the face. Both symptoms must be present for Sturge-Weber to be identified.
These abnormal blood vessels can then trigger a number of other symptoms related to the syndrome. These include seizures and convulsions, development delay (specifically cognitive delay), a weakness on one side of the body and possible paralysis. Around 50% of infected individuals with the syndrome also suffer from glaucoma which is a condition of the eye which can cause pain, a sensitivity to light and issues with vision.
How does someone get tested for Sturge-Weber syndrome?
The initial testing for Sturge-Weber syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Medical information on Sturge-Weber syndrome
This information is courtesy of the London Medical Databases, the most comprehensive resource for photos and information regarding syndromes, genes, and clinical phenotypes.
There have been occasional reports in the literature of patients with both NF and Sturge-Weber syndromes (Srivastava et al., 2013). In this latter report the child had a poirt-wine stain over one upper eyelid, his face and palate. He had on MRI scanning pial angiomatosis and basal ganglia hamartomas.. At the age of 7 years he had 19 cafe-au-lait patches of whom 7 were larger than 5mm.. His mother had extensive neurofibromas and cafe-au-lait patches.
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