Tuberous Sclerosis

Tuberous sclerosis, also known as tuberous sclerosis complex (TSC), is a rare genetic disorder that affects multiple organ systems in the body. It is characterized by the growth of non-cancerous tumors in various parts of the body, including the brain, eyes, heart, lungs, kidneys, and skin.

Causes and Risk Factors

Tuberous sclerosis is caused by a mutation in one of two genes: TSC1 or TSC2. These genes are responsible for producing proteins that help regulate cell growth and division. The mutation can be inherited from either parent or occur spontaneously during fetal development.

Symptoms

The symptoms of tuberous sclerosis vary widely depending on the organs affected and the severity of the condition. Common symptoms include:

• Seizures, which are a common feature of TSC and can be severe and difficult to control
• Developmental delays, including delayed speech and language development
• Intellectual disability, ranging from mild to severe
• Behavioral problems, such as attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder
• Skin lesions, including angiofibromas (small, red bumps on the face), ash leaf spots (white patches on the skin), and shagreen patches (areas of thickened, leathery skin)
• Eye problems, including retinal hamartomas (benign tumors) and vision loss
• Heart problems, including cardiac rhabdomyomas (benign tumors) and arrhythmias
• Lung problems, including lymphangioleiomyomatosis (a rare lung disease that affects women of childbearing age)
• Kidney problems, including angiomyolipomas (benign tumors) and kidney failure

Diagnosis

Tuberous sclerosis is typically diagnosed through a combination of physical examination, medical history, and diagnostic tests. These may include:

• Genetic testing to identify the TSC1 or TSC2 gene mutation
• Imaging studies, such as MRI or CT scans, to visualize tumors in various organs
• Electroencephalogram (EEG) to evaluate seizure activity
• Ophthalmologic examination to assess eye problems
• Echocardiogram to evaluate heart function
• Pulmonary function tests to assess lung function
• Urinalysis and blood tests to evaluate kidney function

Treatments

The treatment of tuberous sclerosis depends on the organs affected and the severity of the condition. Treatment options may include:

• Medications to control seizures, such as anticonvulsants
• Surgery to remove tumors or repair damaged organs
• Laser therapy to treat skin lesions
• Physical therapy to improve mobility and coordination
• Speech and language therapy to address communication difficulties
• Occupational therapy to develop daily living skills
• Behavioral therapies, such as applied behavior analysis (ABA), to address behavioral problems
• Mammalian target of rapamycin (mTOR) inhibitors, such as sirolimus or everolimus, to reduce tumor growth and improve symptoms

Complications and Prognosis

Untreated tuberous sclerosis can lead to significant complications, including:

• Severe seizures and status epilepticus (prolonged seizure activity)
• Intellectual disability and developmental delays
• Behavioral problems and psychiatric disorders
• Organ damage and failure, particularly in the kidneys and lungs
• Pregnancy complications, including miscarriage and premature birth

The prognosis for individuals with tuberous sclerosis varies widely depending on the severity of the condition and the effectiveness of treatment. With proper management and care, many people with TSC can lead active and fulfilling lives.