Tuberous Sclerosis

What Is It?

Tuberous Sclerosis is a complex genetic disorder which affects the normal development of various cell types in the body, resulting in formation of abnormal tissues in many organs including the skin, brain, eye, kidney and heart. It is an autosomal dominant hereditary disorder, meaning a person only has to receive one copy of the abnormal gene from one of their parents to have the disease. However, there have been some new mutations reported without obvious disease in either parent.

This genetic abnormality leads to abnormal development and differentiation of cells, including within the nervous system.

What Types of Symptoms Are Typical?

Patients with tuberous sclerosis can present with varying symptoms. May patients present with skin manifestations which are often the first symptoms noticed which bring them to medical attention. Skin symptoms can include hypomelanotic macules, whitish spots, on the skin or small raised bumps on the child's face. These bumps, angiofibromas are also known as adenoma sebaceum, a misnomer. Other skin manifestations can occur as well.

Various manifestations can occur in many organs. In relation to the nervous system, areas of abnormal cortical development in the brain, called a cortical tuber, can be present in multiple locations. There can also be subependymal nodules or tumors called subependymal giant cell astrocytoma. The subependymal region is the area in the brain just adjacent to the ventricles, the fluid filled cavities within the brain.

The number of tubers in the brain can vary considerably from patient to patient. They are often associated with epilepsy (in over 80% of patients). The number of tubers also correlates with the severity of disease. Patients with more tubers often have more difficulty with seizure control, more developmental delay and poorer performance in school. Other neurological and psychiatric symptoms can occur as well.

There are numerous other manifestations in various organs including the eye, the heart, the kidneys, the lungs, the bones and the gastrointestinal tract.

How Is The Diagnosis Typically Made?

In patients who present with any signs and symptoms consistent with tuberous sclerosis a full neurological evaluation is generally performed. In addition to a thorough history and physical examination, this often includes imaging to detect internal manifestations of the disease. For example, a brain MRI is often employed to detect cortical tubers, subependymal masses and other findings consistent with the disease.

To make a definitive diagnosis of tuberous sclerosis, physicians must demonstrate the presence of either 2 major features or 1 major feature with 2 other minor features. The major and minor features are lists of signs and symptoms which are classic for tuberous sclerosis. They are listed here:

Major Features

  • Cortical Tuber
  • Subependymal nodule
  • Subependymal giant cell astrocytoma
  • Facial angiofibromas or forehead plaque
  • Non-traumatic ungual or periungual fibromas
  • Hypomelanotic skin macules (more than 3)
  • Shagreen patch (another skin manifestation)
  • Retinal nodular hamartomas
  • Cardiac rhabdomyomas
  • Lymphangiomyomatosis
  • Kidney angiomyolipoma

Minor Features

  • Multiple randomly distributed pits in teeth enamel
  • Hamartomatous rectal polyps
  • Cerebral white matter radial migration lines
  • Retinal achromic patch
  • Gingival fibromas
  • Bone cysts
  • Nonrenal hamartomas
  • Confetti skin lesions
  • Multiple renal cysts

What Are Some Common Treatments?

The treatment for tuberous sclerosis is complex and varies from patient to patient depending on their specific clinical manifestations. In regards to the neurological disease, patients with epilepsy are treated aggressively to try to minimize or eliminate seizures. This usually includes initial treatment with anti-seizure medications. In patients who have seizures which are poorly controlled with medications, surgical treatment is sometimes considered if the source of the seizures can be identified in the brain.

Other medical care of these patients can involve management of multiple problems in addition to seizure control. Treatment of tumors, blood pressure control, renal function testing, psychiatric and behavioral testing and treatment and special education for patients with developmental delay and more can all be important in the long-term management of the disease. Patients are generally cared for by a multi-disciplinary team of physicians including pediatric specialists, surgeons, neurosurgeons and others.

The care of each patient is different and therefore generalizations about treatment and prognosis are not possible. Each patient and their family should consult their own treating physicians regarding the recommended treatment options.

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Important Note: This site is not intended to offer medical advice. Every patient is different, and only your personal physician can help to counsel you about what is best for your situation. What we offer is general reference information about various disorders and treatments for your education.

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