What Are the Signs and Symptoms of Tuberous Sclerosis?

This patient has tuberous sclerosis, a genetic disorder that causes mostly benign tumors in many organs.

Tuberous sclerosis complex is a rare genetic disorder that causes mostly benign (non-cancerous) tumors to develop and can affect nearly every organ system of the body. Most typically, however, tuberous sclerosis affects the brain, heart, lungs, kidneys, skin, and eyes.

Symptoms of tuberous sclerosis complex include:

• Cognitive disability
• Seizures
• Kidney problems 
  • Tumors (renal angiomyolipomas) 
  • Polycystic kidney disease 
  • Renal cysts 
  • Renal cell cancers
• Lymphatic complications 
  • Chylothorax
  • Chylous ascites
  • Lymphangioleiomyomas 
• Behavioral problems such as attention deficit hyperactivity disorder (ADHD) or autism
• Skin abnormalities 
  • Patches of light-colored or thickened skin
  • Red acne-like spots on the face 
  • Adenoma sebaceum (benign tumors on the skin)
• Breathing problems
• Hydrocephalus (fluid accumulation on the brain )
• Heart disease
• Eye abnormalities
• Cystic lung abnormalities 
• Problems with teeth and gums
• Benign tumors and polyps in the gastrointestinal tract
• Liver cysts and benign tumors
• Bone lesions

Tuberous sclerosis is caused by genetic mutations inherited from one or both parents, or spontaneously occurring mutations, where neither parent has the mutation.

Tuberous sclerosis is diagnosed both with a physical exam and genetic testing. Genetic testing and diagnosis may be done prenatally, and it can be performed as screening for family members of an affected person.

Additional testing may include: 

• Laboratory studies 
  • Monitoring anticonvulsant treatment
  • Identifying idiosyncratic or dose-related adverse side effects
  • Identifying or monitoring underlying kidney or lung disease
• Imaging studies
  • Computed tomography (CT) scan of the brain 
  • Magnetic resonance imaging (MRI) of the brain
  • Kidney (renal) ultrasound 
  • Echocardiogram
• Other tests
  • Electroencephalogram (EEG)
  • Electrocardiogram (ECG or EKG)

There is no cure for tuberous sclerosis but treatment is aimed at managing symptoms. 

Medications used to treat tuberous sclerosis include:

• Antiepileptic drugs (AEDs) for treating seizures 
• Vigabatrin (Sabril)
• Valproic acid (Depakote, Depakene, Depacon)
• Lamotrigine (Lamictal)
• Topiramate (Topamax, Qudexy XR, Trokendi XR)
• Carbamazepine (Tegretol, Carbatrol, Epitol)
• Benzodiazepines for seizures
• Clonazepam (Klonopin)
• Clobazam (ONFI)
• Corticosteroids for infantile muscle spasms
• Corticotropin (HP Acthar, ACTH)
• Prednisone (Rayos)
• Immunosuppressants to reduce kidney tumors linked to tuberous sclerosis complex and help treat seizures
• Everolimus (Afinitor, Afinitor Disperz) 

Surgery used to treat tuberous sclerosis includes:

• Focal cortical resection/thermal ablation
• Corpus callosotomy
• Vagus nerve stimulation

Other treatments for tuberous sclerosis include:

• Ketogenic dietary therapies to help control seizures
• Interventions to treat cognitive and behavioral problems

Complications of tuberous sclerosis include:

• Sudden or unexplained death 
  • From epilepsy or related to an accident involving a seizure
  • Critical hydrocephalus from undiagnosed brain tumor (giant cell astrocytoma)
  • Irregular heartbeats (cardiac arrhythmias)
  • Bleeding complications of renal tumors
  • Rupture of occult arterial aneurysms 
• Injuries (especially to the face) from falls that result from seizures 
• Long-term adverse effects of antiepileptic drugs (AEDs)
• Kidney, heart, or metabolic complications from a ketogenic diet

Tuberous sclerosis is a progressive disorder, and the course of the disease can vary significantly among affected individuals. Some people will have minimal symptoms and a normal lifespan, while others will require lifetime care and experience life-threatening problems. There is currently no research that provides an accurate estimate of life expectancy for tuberous sclerosis.

Sudden or unexplained death may result from epilepsy or related to an accident involving a seizure, critical hydrocephalus from undiagnosed giant cell astrocytoma, cardiac arrhythmia, bleeding complications of renal tumors, and ruptured aneurysms.