STURGE SYNDROME Meaning and
Definition
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Sturge Syndrome, also known as Sturge-Weber Syndrome, is a rare congenital disorder characterized by a distinctive combination of neurological, vascular, and cutaneous abnormalities. This condition is named after the British ophthalmologist William Allen Sturge, who first described it in 1879. It is estimated to occur in approximately one in every 20,000 to 50,000 live births.
One of the hallmark features of Sturge Syndrome is the presence of a port-wine birthmark on the face, typically affecting the forehead and one side of the face. This port-wine stain is caused by an excessive number of capillaries in the affected area. Individuals with Sturge Syndrome often experience varying degrees of neurological involvement, including seizures, developmental delays, and intellectual disabilities. These neurological symptoms are attributed to abnormal blood vessels in the brain.
Other manifestations of Sturge Syndrome may include glaucoma, which can lead to eventual visual impairment, and abnormalities in other organs such as the skeletal system, gums, and teeth. The severity and specific combination of symptoms can vary widely, even among affected individuals within the same family.
The underlying cause of Sturge Syndrome is a somatic mutation in the GNAQ gene. This mutation occurs randomly during early development and is not inherited from parents. The diagnosis of Sturge Syndrome is typically made based on clinical evaluation, along with imaging studies such as magnetic resonance imaging (MRI) or computed tomography (CT) scans.
Treatment for Sturge Syndrome focuses on managing the associated symptoms and complications. This may involve the use of anticonvulsant medications to control seizures, glaucoma medications or surgeries for ocular abnormalities, and supportive therapies to address developmental challenges.
Common Misspellings for STURGE SYNDROME
- aturge syndrome
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- stuege syndrome
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Etymology of STURGE SYNDROME
The word "Sturge Syndrome" takes its name from its discoverer, Dr. William Allen Sturge. The condition is also known as "Sturge-Weber Syndrome", named after the two other physicians, Frederick Parkes Weber and Karl Sturge, who further described and expanded upon the initial findings by Dr. Sturge.
