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Sturge Weber Syndrome: Genetics, Clinical manifestations, Diagnosis, Treatment: USMLE Step 1

📌 𝐅𝐨𝐥𝐥𝐨𝐰 𝐨𝐧 𝐈𝐧𝐬𝐭𝐚𝐠𝐫𝐚𝐦:-   / drgbhanuprakash   📌𝗝𝗼𝗶𝗻 𝗢𝘂𝗿 𝗧𝗲𝗹𝗲𝗴𝗿𝗮𝗺 𝗖𝗵𝗮𝗻𝗻𝗲𝗹 𝗛𝗲𝗿𝗲:- https://t.me/bhanuprakashdr 📌𝗦𝘂𝗯𝘀𝗰𝗿𝗶𝗯𝗲 𝗧𝗼 𝗠𝘆 𝗠𝗮𝗶𝗹𝗶𝗻𝗴 𝗟𝗶𝘀𝘁:- https://linktr.ee/DrGBhanuprakash Sturge Weber Syndrome: Genetics, Clinical manifestations, Diagnosis, Treatment Genetics: _________ SWS is associated with a somatic mutation in the GNAQ gene, which isn't inherited but rather occurs spontaneously during early development. Clinical Manifestations: _______________________ 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: __________ 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: ___________ 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. #sturgewebersyndrome #fmge #fmgevideos #rapidrevisionfmge #fmgejan2023 #mbbslectures #nationalexitexam #nationalexittest #neetpg #usmlepreparation #usmlestep1 #fmge #usmle #drgbhanuprakash #medicalstudents #medicalstudent #medicalcollege #neetpg2023 #usmleprep #usmlevideos #usmlestep1videos #medicalstudents #neetpgvideos #pediatrics #medicalstudentsupdate #mbbsfinalyear