✅ What is Tuberous Sclerosis Complex?
TSC is a rare genetic disorder that causes non-cancerous tumors to grow in different parts of the body, especially the:
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Brain
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Skin
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Kidneys
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Heart
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Eyes
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Lungs
🧬 Cause:
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Caused by mutations in the TSC1 or TSC2 genes.
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These genes regulate cell growth. When they are mutated, cells grow uncontrollably, forming tumors.
🧒🏻 TSC in Children – Key Symptoms:
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Seizures (common and often early sign)
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Developmental delay or intellectual disability
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Autism spectrum disorder
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Skin findings:
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Hypomelanotic macules (white patches)
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Facial angiofibromas
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Shagreen patches
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Behavioral issues
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Kidney cysts or tumors (angiomyolipomas)
🩺 Diagnosis:
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Clinical exam + imaging (MRI, CT)
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Genetic testing (TSC1/TSC2 mutations)
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EEG for seizure monitoring
💊 Treatment:
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No cure, but symptoms can be managed:
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Anti-seizure medications
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Behavioral therapy / educational support
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mTOR inhibitors (like everolimus) to shrink tumors
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Regular screening for organs
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