Sturge-Weber syndrome
Sturge-Weber Syndrome
Sturge-Weber syndrome (pronounced: sturj-web-er sin-drome), also known as encephelotrigeminal angiomatosis, is a rare, congenital neurological and skin disorder. It is named after the physicians Frederick Parkes Weber and William Allen Sturge who first described it in the late 19th century.
Etymology
The term Sturge-Weber syndrome is derived from the names of the two physicians who first described the condition. Dr. William Allen Sturge, an English physician, first reported the condition in 1879. Dr. Frederick Parkes Weber, also an English physician, further described the condition in 1922.
Symptoms
The most common symptoms of Sturge-Weber syndrome include a facial birthmark known as a Port-wine stain, neurological abnormalities, and eye abnormalities. Neurological abnormalities may include seizures, intellectual disability, and developmental delays. Eye abnormalities may include glaucoma, an increase in pressure within the eye that can lead to vision loss.
Causes
Sturge-Weber syndrome is caused by a mutation in the GNAQ gene. This mutation is not inherited but occurs randomly in an individual's genetic code. The exact reason for this mutation is currently unknown.
Diagnosis
Diagnosis of Sturge-Weber syndrome is typically based on the presence of the characteristic port-wine stain and neurological symptoms. Imaging tests such as MRI or CT scan may be used to confirm the diagnosis.
Treatment
Treatment for Sturge-Weber syndrome is symptomatic and supportive. This may include medication to control seizures, laser treatment for port-wine stains, and surgery to manage glaucoma.
See also
References
External links
- Medical encyclopedia article on Sturge-Weber syndrome
- Wikipedia's article - Sturge-Weber syndrome
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