Sturge Weber Syndrome: Genetics, Clinical manifestations, Diagnosis, Treatment: USMLE Step 1
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Sturge Weber Syndrome: Genetics, Clinical manifestations, Diagnosis, Treatment
Genetics:
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SWS is associated with a somatic mutation in the GNAQ gene, which isn't inherited but rather occurs spontaneously during early development.
Clinical Manifestations:
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Facial Port-Wine Stain: A facial birthmark, typically present at birth, appearing on the forehead and upper eyelid on one or both sides of the face.
Neurological Symptoms: Seizures, typically starting in infancy. Also, may include weakness on one side of the body (hemiparesis), developmental delays, and glaucoma.
Leptomeningeal Angiomatosis: Blood vessel growths on the brain's surface, which may lead to seizures, stroke-like episodes, and intellectual disability.
Diagnosis:
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Clinical Presentation: Diagnosis often based on the presence of characteristic signs like port-wine stain and neurological symptoms.
Imaging: CT or MRI scans can reveal calcifications and brain atrophy, and help identify leptomeningeal angiomatosis.
Eye Examination: To check for glaucoma, which commonly affects children with SWS.
Treatment:
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Symptomatic and Supportive: SWS requires a multi-disciplinary approach. Anti-epileptic drugs can control seizures, while physical and occupational therapy can help manage developmental delays and hemiparesis.
Laser Treatment: For port-wine stain removal.
Glaucoma Management: This can involve medications, laser therapy, or surgery.
Surgery: In severe cases, hemispherectomy (removal or disconnection of the affected side of the brain) may be considered to control intractable seizures.
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