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:
-
Brain
-
Skin
-
Kidneys
-
Heart
-
Eyes
-
Lungs
🧬 Cause:
-
Caused by mutations in the TSC1 or TSC2 genes.
-
These genes regulate cell growth. When they are mutated, cells grow uncontrollably, forming tumors.
🧒🏻 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
-
