1. Tuberous Sclerosis Complex (most common in paediatrics)-TSC

 

1. Tuberous Sclerosis Complex (most common in paediatrics)

✅ What is it?

Tuberous Sclerosis Complex (TSC) is a genetic disorder that causes non-cancerous tumors to grow in different parts of the body, especially:

• Brain

• Skin

• Kidneys

• Heart

• 🧒🏻 TSC in Children – Key Symptoms:

  • Seizures (common and often early sign)

  • Developmental delay or intellectual disability

  • Autism spectrum disorder

  • Skin findings:

    • Hypomelanotic macules (white patches)

    • Facial angiofibromas

    • Shagreen patches

  • Behavioral issues

  • Kidney cysts or tumors (angiomyolipomas)

  ---

  🩺 Diagnosis:

  • Clinical exam + imaging (MRI, CT)

  • Genetic testing (TSC1/TSC2 mutations)

  • EEG for seizure monitoring

  ---

  💊 Treatment:

  • No cure, but symptoms can be managed:

    • Anti-seizure medications

    • Behavioral therapy / educational support

    • mTOR inhibitors (like everolimus) to shrink tumors

    • Regular screening for organs