Tuberous Sclerosis: Symptoms, Genetics & Diagnosis | High-Yield Review | CanadaQBank

Tuberous Sclerosis is a rare genetic disorder characterized by benign tumors in multiple organs, including the brain, skin, kidneys, and heart. This high-yield medical video breaks down the clinical features, diagnostic criteria, and management, plus real-world clinical vignettes to test your understanding.


What You’ll Learn in This Video:

What is Tuberous Sclerosis? – Overview & TSC1/TSC2 gene mutations
Key Symptoms – Seizures, developmental delay, ash-leaf spots, facial angiofibromas
Organ Involvement – CNS, dermatologic, renal (angiomyolipomas), cardiac (rhabdomyomas), pulmonary (LAM)
Diagnosis – Clinical criteria, genetic testing, imaging (MRI/CT)
Treatment Options – mTOR inhibitors (e.g., everolimus), seizure control, supportive care
Prognosis & Follow-Up – Lifelong monitoring & multidisciplinary care
Clinical Vignettes – Test yourself with real-life case applications


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