Tuberous Sclerosis Complex (TSC)

Tuberous Sclerosis Complex (TSC): A Rare Genetic Condition with Big Impacts

Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that causes noncancerous tumors to grow in vital organs—most commonly the brain, heart, kidneys, skin, and lungs.

TSC can lead to a wide range of developmental, behavioral, and physical challenges. Many children with TSC also have epilepsy or symptoms associated with autism.

What Causes TSC?

TSC is caused by mutations in either the TSC1 or TSC2 gene, which help regulate cell growth. These mutations lead to uncontrolled growth, resulting in benign tumors.

It affects about 1 in 6,000 live births and is often diagnosed in infancy or early childhood.

🧠 Signs & Symptoms

Symptoms can vary greatly but may include:

• Seizures (often the first noticeable sign)

• Developmental delays

• Learning difficulties

• Behavioral issues or autism-like traits

• Skin discolorations or facial angiofibromas

• Kidney or heart tumors

• Sleep or feeding challenges

  
  

🩺 Diagnosis & Monitoring

TSC can often be diagnosed through brain imaging (like MRI) and genetic testing. Ongoing monitoring is essential due to the risk of tumor growth in multiple organs.

🛠️ Managing TSC

There is no cure, but multidisciplinary care can greatly improve quality of life:

• Neurologists for seizures

• Developmental pediatricians for learning and behavior

• Therapists for speech, motor, or sensory challenges

• Medications like mTOR inhibitors to reduce tumor growth

  
  

Families benefit from support networks like the TSC Alliance, which connects them to resources and research updates.

image by freepik