Overview

Tuberous sclerosis (TWO-bur-uhs skluh-ROH-sis), also called tuberous sclerosis complex, is an uncommon genetic disorder that causes noncancerous (benign) tumors — unexpected overgrowths of normal tissue — to develop in many parts of the body. Signs and symptoms vary widely, depending on where the growths develop and how severely a person is affected.

Tuberous sclerosis is often detected during infancy or childhood. Some people with tuberous sclerosis have such mild signs and symptoms that the condition isn't diagnosed until adulthood, or it goes undiagnosed. Others experience serious disabilities.

Although there is no cure for tuberous sclerosis, and the course or severity of the disorder can't be predicted, treatments are available to manage symptoms.

Source: http://www.mayoclinic.com

Symptoms

Tuberous sclerosis symptoms are caused by noncancerous growths (benign tumors), in parts of the body, most commonly in the brain, eyes, kidneys, heart, lungs and skin, although any part of the body can be affected. Symptoms can range from mild to severe, depending on the size or location of the overgrowth.

Although the signs and symptoms are unique for each person with tuberous sclerosis, they can include:

• Skin abnormalities. Most people with tuberous sclerosis have patches of light-colored skin, or they may develop small, harmless areas of thickened, smooth skin or reddish bumps under or around the nails. Facial growths that begin in childhood and resemble acne also are common.
• Seizures. Growths in the brain may be associated with seizures, which can be the first symptom of tuberous sclerosis. In small children, a common type of seizure called infantile spasm shows up as repetitive spasms of the head and legs.
• Cognitive disabilities. Tuberous sclerosis can be associated with developmental delays and sometimes intellectual disability or learning disabilities. Mental health disorders, such as autism spectrum disorder or attention-deficit/hyperactivity disorder (ADHD), also can occur.
• Behavioral problems. Common behavioral problems may include hyperactivity, self-injury or aggression, or issues with social and emotional adjustment.
• Kidney problems. Most people with tuberous sclerosis develop noncancerous growths on their kidneys, and they may develop more growths as they age.
• Heart issues. Growths in the heart, if present, are usually largest at birth and shrink as the child gets older.
• Lung problems. Growths that develop in the lungs may cause coughing or shortness of breath, especially with physical activity or exercise. These benign lung tumors occur more often in women than in men.
• Eye abnormalities. Growths can appear as white patches on the light-sensitive tissue at the back of the eye (retina). These noncancerous growths don't always interfere with vision.

When to see a doctor

Signs and symptoms of tuberous sclerosis may be noticed at birth. Or the first signs and symptoms may become evident during childhood or even years later in adulthood.

Contact your child's doctor if you're concerned about your child's development or you notice any of the signs or symptoms of tuberous sclerosis described above.

Source: http://www.mayoclinic.com

Causes

Signs and symptoms of tuberous sclerosis may be noticed at birth. Or the first signs and symptoms may become evident during childhood or even years later in adulthood.

Contact your child's doctor if you're concerned about your child's development or you notice any of the signs or symptoms of tuberous sclerosis described above.

Source: http://www.mayoclinic.com

Diagnosis

Depending on your child's signs and symptoms, he or she may be evaluated by several different specialists with expertise in tuberous sclerosis, such as doctors trained to treat problems of the brain (neurologist), heart (cardiologist), eyes (ophthalmologist), skin (dermatologist), kidneys (nephrologist), and other specialists.

Your child's doctors will do a physical exam, discuss symptoms and family history, and look for typical growths (benign tumors), commonly associated with tuberous sclerosis. They will also likely order several tests — including genetic tests — to diagnose tuberous sclerosis and identify related problems.

Seizure evaluation

If your child has had seizures, diagnostic testing will likely include an electroencephalogram. This test records electrical activity in the brain and can help pinpoint what's causing your child's seizures.

Brain, lungs, kidneys and liver evaluation

To detect growths or tumors in the body, diagnostic testing will likely include:

• Magnetic resonance imaging (MRI). This test uses a magnetic field and radio waves to create detailed images of the brain or other parts of the body.
• Computerized tomography (CT) scan. This X-ray technique produces cross-sectional images, and sometimes 3-D images, of the brain or other parts of the body.
• Ultrasound. Also called sonography, this test uses high-frequency sound waves to create images of certain body parts, such as the kidneys.

Heart evaluation

To determine whether your child's heart is affected, diagnostic testing will likely include:

• Echocardiogram. This test uses sound waves to produce images of the heart.
• Electrocardiogram (ECG or EKG). This test records the electrical activity of the heart.

Eye exam

A light and magnifying lens are used to examine the inside of the eye, including the retina.

Developmental or psychiatric evaluation

If needed based on routine screening, an evaluation with a psychiatrist, psychologist or other mental health provider can identify developmental or intellectual disabilities, educational or social problems, or behavioral or emotional disorders.

Screening and genetic testing

If a child is diagnosed with tuberous sclerosis without a family history of the condition, both parents may consider screening for tuberous sclerosis as well.

Parents may also consider genetic testing to confirm the diagnosis of tuberous sclerosis in their child, and to understand the risk of tuberous sclerosis for their other children and any future children.

People with tuberous sclerosis may consider genetic counseling before their reproductive years to understand their risk of passing on the condition and their reproductive options.

Source: http://www.mayoclinic.com

Complications

Depending on where the noncancerous growths (benign tumors), develop and their size, they can cause severe or life-threatening complications in people with tuberous sclerosis. Here are some examples of complications:

• Excess fluid in and around the brain. One type of brain growth can block the flow of cerebral spinal fluid within the brain. This blockage can cause the buildup of fluid in the cavities (ventricles) deep within the brain, a condition called hydrocephalus. Various signs and symptoms include an unexpectedly large head size, nausea, headaches and behavior changes.
• Heart complications. Growths in the heart, usually in infants, can block blood flow or cause problems with heart rhythm (dysrhythmia).
• Kidney damage. Growths in the kidney can be large and cause potentially serious — even life-threatening — kidney problems. Growths in the kidney can cause high blood pressure or bleeding or lead to kidney failure. Rarely, kidney growths can become cancerous.
• Lung failure. Growths in the lungs can lead to a collapsed lung or fluid around the lungs that interferes with lung function.
• Increased risk of cancerous (malignant) tumors. Tuberous sclerosis is associated with an increased risk of developing malignant tumors in the kidneys and brain.
• Vison damage. Growths in the eye can interfere with vision if they block too much of the retina, though this is rare.

Coping and support

If your child is diagnosed with tuberous sclerosis, you and your family may face a number of challenges and uncertainties. One of the most difficult things about this condition is that it's impossible to predict how your child's health and development will unfold over time.

Your child may have only mild problems and track closely with peers in terms of academic, social and physical abilities. Or your child may have more-serious health and developmental problems and lead a life that is less independent or is different from what you may have expected.

To help you and your child cope, here's what you can do:

• Establish a screening schedule. Learn all you can about tuberous sclerosis, and work closely with your child's doctor to establish an ongoing screening and monitoring schedule for health and developmental problems. Discovering and treating problems early will reduce complications.
• Get help early for behavioral problems. For parents, the behavioral issues that may accompany tuberous sclerosis can be challenging. Remember that the behavior is not your fault — and it's not your child's fault. Talk to your child's doctor if problems develop, and work with the school or a mental health provider to discuss education and behavioral and mental health services. The earlier you and your child get help learning how to manage these problems, the more likely your child will do well in the long term.
• Provide love and support. Your love and support are essential to helping your child reach his or her full potential. When needed, counseling with a mental health provider may help with adjustment and coping. Respite care services may provide helpful support for parents.
• Connect with other families. You may find it helpful to connect with other families who are coping with tuberous sclerosis. Ask your child's health care team to recommend a support group in your area, or contact the Tuberous Sclerosis Alliance to find out about support.

Source: http://www.mayoclinic.com

Risk factors

Tuberous sclerosis can be the result of either:

• A random cell division error. About two-thirds of people who have tuberous sclerosis have a new mutation in either the TSC1 or TSC2 gene — the genes associated with tuberous sclerosis — and do not have a family history of tuberous sclerosis.
• Inheritance. About one-third of people who have tuberous sclerosis inherit an altered TSC1 or TSC2 gene from a parent who has the disorder.

If you have tuberous sclerosis, you have up to a 50 percent chance of passing the condition to your biological children. Severity of the condition may vary. A parent with tuberous sclerosis may have a child who has a milder or more severe form of the disorder.

Source: http://www.mayoclinic.com