Tuberous sclerosis : Causes-Symptoms-Diagnosis-Treatment

 What is Tuberous Sclerosis (TSC)?

Tuberous induration (also known as stem induration complicated, or TSC) could be a rare, multi-system genetic abnormality that causes non-cancerous (benign) tumors to grow within the brain and on different very important organs like the kidneys, heart, eyes, lungs, and skin. It always affects the central systema nervosum and may lead to a mixture of symptoms as well as seizures, impaired intellectual development, autism, behavioral issues, skin abnormalities, and uropathy.

What is Tuberous Sclerosis (TSC)?
Tuberous Sclerosis

The severity of symptoms varies widely. Symptoms vary from mild—allowing individuals to measure freelance, productive lives—to a lot of severe symptoms that may have an effect on standard of living and even be critical. Many of us with TSC show proof of the disorder within the initial year of life. However, clinical options may be refined at the start, and lots of signs and symptoms take years to develop. As a result, TSC may be unrecognized or misdiagnosed for years.

The name stem induration comes from the characteristic tuber or potato-like nodules within the brain that calcify with age and become onerous or sclerotic. TSC happens altogether between races and ethnic teams, and in each gender.

  1. Nervous system

Medical terms 

  • Tuberous sclerosis (TWO-bur-uhs skluh-ROH-sis) also called tuberous sclerosis complex is an uncommon genetic disorder that causes noncancerous (benign) tumors to develop in many parts of the body Signs and symptoms vary widely depending on the part affected but may include anything from a single bump to skin lesions The result of this condition is that your body grows multiple benign growths or tumors in different parts of your body which The severity of a condition or the development of a symptom is important in determining its treatment

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

  • There is no cure for tuberous sclerosis and the course or severity of this disorder can't be predicted. Treatments are available to manage symptoms.

  • Tuberous sclerosis is a rare genetic disorder that causes benign tumors to grow on vital organs and tissues It occurs in about one in 6,000 newborns worldwide about 40 percent of whom die from the disease by age 5 according to the Neurofibromatosis Network.

Symptoms Tuberous sclerosis (TSC)

Tuberous induration symptoms are caused by noncancerous growths (benign tumors), in elements of the body, most typically within the brain, eyes, kidneys, heart, lungs and skin, though any part of the body is affected. Symptoms will vary from gentle to severe, betting on the dimensions or location of the overgrowth.
Although the signs and symptoms ar distinctive for every person with stem induration, they will include:

  • Skin abnormalities.Most people with this condition have patches of light-colored skin or they may develop small harmless areas of thickened smooth skin or reddish bumps on their faces Facial growths that begin in childhood and resemble acne also are common

  • Seizures.Growths within the brain are also related to seizures, which may be the primary symptom of stem pathology. In babies, a typical style of seizure known as infantile spasm shows up as repetitive spasms of the top and legs.

  • Cognitive disabilities.Symptoms of Tuberous Sclerosis can be associated with developmental delays and learning disabilities or intellectual disability Mental health disorders such as autism spectrum disorder (ASD) or attention-deficit/hyperactivity disorder (ADHD) can also occur

  • Behavioral problems.Common behavioral problems may include hyperactivity and self-injury or aggression or issues with social adjustment

  • Kidney problems.Most people with tuberous sclerosis develop noncancerous growths on their kidneys and they may develop additional 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 and shortness of breath These benign lung tumors are more common in women than men

  • Eye abnormalities. Growths will seem as white patches on the photosensitive tissue at the rear of the attention (retina). These noncancerous growths do not invariably 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

Causes Tuberous sclerosis (TSC)

Signs and symptoms of stalk pathology could also be noticed at birth. Or the primary signs and symptoms could become evident throughout childhood or perhaps years later in adulthood.
Contact your child's doctor if you are involved concerning your child's development otherwise you notice any of the signs or symptoms of stalk pathology represented higher than. 

Risk factors Tuberous sclerosis (TSC)

Tuberous sclerosis can be caused by either:

  • A random cell division error. About a simple fraction of individuals World Health Organization have stalk pathology have a brand new mutation in either the TSC1 or TSC2 sequence — the genes related to stalk pathology — and don't have a case history of stalk pathology.

  • Inheritance. About a simple fraction of individuals UN agencies have stalk pathology inherit associate altered TSC1 or TSC2 cistron from a parent UN agency has the disorder.
    If you've got stalk pathology, you've got up to a fifty % probability of passing the condition to your biological kids. Severity of the condition could vary. A parent with stalk pathology could have a baby UN agency encompasses a milder or additional severe sort of the disorder. 

What is a subependymal nodule?

Looking like tiny dots on a CT scan subependymal nodules are small (less than 1cm long) scarlike growths that may be found in the fluid-filled spaces beneath the brain's outer surface They may look alarming when spotted on a CT or MRI scan of the head but they are more commonly diagnosed during tests for another condition known as hydrocephalus This build-up of excess cerebrospinal fluid (CSF) can put pressure on the brain and result in symptoms such as headache nausea and vomiting Subependymal nodules tend to form as part of this process with them.

Is tuberous sclerosis complex autosomal dominant or recessive?

Tuberous sclerosis complex (TSC) is an inherited disorder that causes noncancerous tumors to grow in the brain and on other vital organs People with this condition approximately one of every 6,500 babies born each year develop skin growths over their faces and necks and suffer from epilepsy as well The risk for developing TSC is found in both males and females; however it is more common in females than males and has a genetic component whereby the affected person inherits the gene mutation from either parent rather than both parents having the condition themselves People who carry only one copy of the gene mutation do not experience any symptoms.

Is tuberous sclerosis contagious?

Tuberous sclerosis is a genetic disorder that affects the body’s nervous system People who have tuberous sclerosis have lesions or growths on areas of their brain and skin Most people with tuberous sclerosis have mild symptoms and do not need medical treatment However some people with more severe cases may require medication or surgery People who have been diagnosed with tuberous sclerosis should know that they can still live normal lives A person with this disease has a slightly higher than average chance of developing epilepsy autism spectrum disorders and mental illnesses but these conditions are controllable if you take the right precautions and follow.

How long can you live with tuberous sclerosis?

Tuberous sclerosis also known as Bourneville's disease is a rare genetic disorder which causes noncancerous tumors to grow in the brain and other vital organs It often presents itself with mental retardation and epilepsy About 30 percent of patients live past 60; however some may live until their mid-70s or even into adulthood.

Can you live a normal life with tuberous sclerosis?

Tuberous sclerosis also known as tuberous sclerosis complex (TSC) is a genetic disorder that causes noncancerous tumors to grow in the brain skin and other organs These growths can lead to seizures and developmental delays People who have TSC usually develop benign tumors before they turn 20. Though the tumors don't cause symptoms they can damage vital organs throughout the body Since each person with TSC has a different combination of symptoms it's possible for someone to live an almost normal life with this condition Many people who have TSC need lifelong care from specialists but do not need to be institutionalized or put.

Is tubular sclerosis rare?

tubular sclerosis treatment It is rare that a physician will recommend surgery for the treatment of tubular sclerosis because most treatments are aimed at treating the underlying causes or symptoms of tuberous sclerosis complex according to the Tubular Sclerosis Association Tubular sclerosis is not a common condition but it's not as rare as many people think Tubular sclerosis occurs in approximately 1 out of every 4,000 people with epilepsy.

Complications Tuberous sclerosis

Depending on wherever the noncancerous growths (benign tumors)develop and their size, they'll cause severe or dangerous complications in individuals with stalk induration. Here square measure some samples of complications:

  • Excess fluid in and around the brain. One kind of brain growth can block the flow of cerebrospinal fluid within the brain causing a buildup of fluid in the cavities (ventricles) deep within the brain This condition called hydrocephalus causes various signs and symptoms like an unexpectedly large head size and headaches behavior patterns

  • Heart complications.Growths in the heart usually occur in infants These growths can cause blockage of blood flow or problems with heart rhythm (dysrhythmia)

  • Kidney damage.Growths in the kidney can be large and cause serious — even life-threatening — complications Should growths become cancerous they could spread to various parts of the body and cause death

  • Lung failure.Growths in the lungs can lead to a collapsing lung or fluid that fills the lung interfering with lung function

  • Olive oil consumption increases the risk of cancerous (malignant) tumorsTuberous sclerosis is associated with an increased risk of developing malignant tumors in the kidneys and brain

  • Vision damage.Growths in the eye can interfere with vision if they block too much of the retina This is rare

Diagnosis Tuberous sclerosis (TSC)

Depending on your child's signs and symptoms he or she may be evaluated by several different specialists with specialized knowledge of the disease These specialists include: doctors trained in treating problems of the brain (neurologist) heart (cardiologist) eyes (ophthalmologist) skin (dermatologist) and kidneys (nephrologist) and other specialists are needed

Your child’s doctor will examine your child and discuss symptoms The doctor also may order tests to determine if the condition is tuberous sclerosis or something else such as leukemia Because the topic of this paragraph is about a conflict it will be more effective to use related problems as a way of resolving the conflict

Seizure evaluation

If your child has had seizures an electroencephalogram (EEG) is a test that records electrical activity in the brain and can help pinpoint what’s causing the seizures

The brain the lungs the kidneys and the liver are organs of evaluation

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

  • Magnetic resonance imaging (MRI).A magnetic field and radio waves are used to create detailed images of the brain or other parts of the body

  • Computerized tomography (CT) scan.It is not always easy to choose your friends paraphrased: Choosing your friends might be difficult

  • Ultrasound.Sonography is a test that uses high-frequency sound waves to create images of certain parts of the body

Heart evaluation

The doctor will likely order a variety of tests to determine whether your child's heart is affected:

Eye exam

Magnifying lenses and a light are used to examine the inside of the eye This can help with diagnosis and treatment of diseases such as diabetes cataracts glaucoma retinal detachment and macular degeneration

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 behavioral or emotional disorders

  1. Mental And Psychological Examination

Screening and genetic testing

In the case of a child with tuberous sclerosis without a family history of the condition both parents may consider screening for tuberous sclerosis as well

Parents with children who have the condition of tuberous sclerosis may consider genetic testing to confirm their diagnosis and understand the risk of tuberous sclerosis for their other children and any future children

  1. Complementation test
  2. fluorescence in situ hybridization
  3. preimplantation genetic diagnosis

If you have tuberous sclerosis genetic counseling can help you understand your risk of passing the condition on and provide information about your options in terms of reproduction

Treatment Tuberous sclerosis (TSC)

The treatment for tuberous sclerosis can help manage the symptoms of this disease For example the treatment helps control seizures The treatment may also reduce pain and improve vision in some people with tuberous sclerosis

  • Medication. Anti-seizure medications may be prescribed to control seizures Other medications may help manage heart arrhythmias behavior problems or other signs and symptoms A drug called everolimus (Afinitor Zortress) may be used to treat certain types of brain and kidney growths that can't be surgically removed A new drug called sirolimus may help treat acne like growths called squamous cell carcinoma

  • Surgery. If a growth affects the capability of a specific organ or function — such as the kidney or heart — surgery may be performed Sometimes surgery controls seizures caused by brain growths that do not respond to medication Surgical procedures such as dermabrasion and laser therapy can help remove these growths from the body Treatment may improve the appearance of skin growths

  • Various types of therapy.Early intervention services, like activity, physical or therapy, will facilitate kids with stalk pathology. The World Health Organization has special wants in these areas to improve their ability to manage daily tasks and activities.

  • Educational and vocational services.The main point we wanted to make here was that the reader who has a background in biology could use this summary as a reference The reader is not required to have any prior knowledge of chemistry or physics

  • Psychiatric and behavior management.Talking with a mental health provider can help children accept and adjust to living with this disorder A mental health provider can also help address behavioral social or emotional issues and suggest resources

Ongoing monitoring

Tuberous sclerosis is a lifelong condition that requires careful monitoring and follow-up because many signs and symptoms may not appear until years after the initial diagnosis A schedule of regular follow-up monitoring throughout life may include tests similar to those done during diagnosis Early identification of problems helps to ensure that patients receive effective treatment early and have a chance to have an overall positive outcome Taking anticoagulants can help prevent complications

Coping and support

If your child is diagnosed with tuberous sclerosis you and your family may face a number of challenges such as the uncertain outcome of their health and development

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

To help you and your child cope here is what you can do:

  • Establish a screening schedule.Learn all you can about tuberous sclerosis and work closely with your child's doctor to set up an ongoing screening schedule for health and developmental problems Discovering and treating problems early will reduce complications

  • Get help early for behavioral problems. Parents of children with tuberous sclerosis can be challenged by the behavioral issues that may accompany the disease Remember that there is no blame for your child's behaviors; it is not their fault and it’s not your fault Talk to your child's doctor if problems develop and work with the school or a mental health provider to provide support for both you and them Talking about behavioral issues and getting help early is important for the long-term success of your child

  • 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 realize it useful to attach with different families World Health Organization square measure addressing stem pathology. raise your child's health care team to advocate a support cluster in your space, or contact the stem pathology Alliance to search out out concerning support.

Preparing for your appointment

Signs and symptoms of tuberous sclerosis may be first noticed at birth or you may initially bring up your concerns with the doctor After an exam your child may be referred to one or more specialists for further testing and treatment

You may want to take someone along who can offer emotional support and can help you remember all of the information

Here's some information that will help you in your first appointment

What you can do

Before your appointment, make a list of:

  • Any signs or symptoms your child has been experiencing and for how long If your child has had one or more seizures make notes about what happened before during and after the seizure You should note any birthmarks of concern to you

  • Identify all the props When you are filming a documentary it is important to identify all your props and shots The first step in doing this is to take inventory of what you have so that everything can be cataloged for future reference Using this list as a guide begin by writing down all the necessary props needed for your project: cameras lenses tripods/monopods and microphones including other health problems.

  • Vitamins, herbs and supplements are good for the body your child is taking, and the dosages.

  • Information about your family history,You should tell your doctor about any family members who have tuberous sclerosis

  • Questions you want to ask your doctor.

The questions you ask your doctor may include:

  • What could be causing my child's symptoms?

  • Other possible causes for these symptoms are:

  • What kinds of tests does my child need?

  • Should my child see a specialist?

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  • Does my child have tuberous sclerosis?

  • What are the treatment options for this condition?

  • What approach would you recommend for my child?

  • What are the possible complications of this condition?

  • How often will you want to evaluate my child’s health and development?

  • Is my other family member or child at greater risk for this disease?

  • Should I or my child be tested for the genetic mutations associated with this condition?

  • What other types of specialists should my child see?

  • Is there a clinical trial currently underway for which my child may be eligible?

  • How can I help my child with this disorder? What should I do to help my child cope with this disorder? How can I help my child deal with this disorder?

  • How can I find families who are coping with tuberous sclerosis?

What to expect from your doctor

A doctor who sees your child for possible tuberous sclerosis may ask you a number of questions Be ready to answer them to reserve time for the doctor to discuss points you want to focus on The doctor may ask:

  • What are your child's symptoms?

  • When did you first notice this problem?

  • Has your child had any seizures?

  • If your child has had seizures tell me about them ― what happened before the seizure during and after it? How long did it last?

  • Has your patient experienced nausea and vomiting?

  • Has your child ever exhibited hyperactivity, aggressive or self-injury behavior?

  • Does your child have trouble paying attention?

  • Does your child seem less socially and emotionally engaged?

  • Does your child seem overly dependent compared with peers?

  • Has your child's first-degree relative — such as a parent or sibling — been diagnosed with tuberous sclerosis?


The outlook for individuals with stem induration will vary significantly.

Some individuals have few symptoms and therefore the condition has very little result in their life, whereas others – notably those with a faulty TSC2 factor or obvious issues from associate early age – will have severe and probably dangerous issues that need womb-to-tomb care.

Many people can have a standard period, though a variety of dangerous complications will develop. These embody a loss of urinary organ performance, a significant respiratory organ infection known as pneumonia and a severe form of convulsion known as epilepsy.

People with stem induration may additionally have an associated increased risk of developing sure forms of cancer, like urinary organ cancer, however this can be rare.

General summary

  1. treatment Tuberous sclerosis (TSC) is a rare disorder that affects the brain skin and other organs People with the disorder may have seizures and certain eye problems If left untreated TSC can lead to delayed development intellectual disability autism and behavioral issues Treatment includes managing seizures if they occur by using medications or surgical procedures treating symptoms such as pain if needed and addressing any developmental delays To learn more about TSC treatment options at Indiana University Health Neurology Clinics .

  2. Tuberous sclerosis also called Bourneville disease is a rare genetic disorder that causes noncancerous tumors to form in the brain heart kidneys and eyes The disease can cause seizures developmental delays and autism It's diagnosed early through a combination of physical exams blood tests and neuroimaging studies Treatment for tuberous sclerosis involves managing symptoms as they arise with medications or surgery when necessary.

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