Tuberous Sclerosis

Tuberous Sclerosis

Tuberous sclerosis is a hereditary disease associated with various brain malformations and skin changes. The disease is also known as Bourneville-Pringle syndrome after its discoverers.

What is tuberous sclerosis?

Tuberous sclerosis is called Tuberous Sclerosis Complex (TSC) in the English-speaking world. The disease belongs to the group of phakomatoses. Phakomatoses are diseases characterized by malformations in the skin and nervous system. In addition to tuberous sclerosis, neurofibromatoses and Peutz-Jeghers syndrome also belong to the phakomatoses. For introduction to keshan disease, please visit sciencedict.com.

One newborn in every 8,000 births is affected by the disease. The disease is inherited. There are malformations and tumors of the brain, developmental disorders, skin changes and organ changes. Tuberous sclerosis cannot be treated causally. Treatment is purely symptomatic.

People with mild tuberous sclerosis usually lead normal lives. However, if the disease progresses severely, life expectancy is limited.

Causes

Tuberous sclerosis is a hereditary disease. It is inherited in an autosomal dominant manner. In autosomal dominant inheritance, the genetic information resides on one of the 22 pairs of autosomes. The disease is inherited regardless of gender. The children of a sick person have a 50 percent risk of inheriting the diseased allele and thus also becoming ill.

If both parents suffer from tuberous sclerosis and are also heterozygous carriers, the risk of developing the disease increases to 75 percent. If one parent is homozygous, i.e. carries two defective alleles, the risk of developing the disease is 100 percent. In 30 percent of all patients, the inheritance took place through father and mother. In the remaining 70 percent, the disease occurs only sporadically.

Diseases caused by new mutations are possible. Even if tuberous sclerosis is only very mildly developed in sick parents, there is a possibility that the children will later suffer from a very severe form of the disease.

Symptoms, Ailments & Signs

The tumor-like changes and malformations in the brain are often detected very early in the patient. Cortical glioneuronal hamartomas are found in the cerebral cortex. Hamartomas are tumors that arise from malformed embryonic tissue. Bulging occurs, which results in cognitive impairment. Epilepsies can also be caused by these tubes.

In addition, so-called subependymal giant cell astrocytomas and subependymal nodules form near the ventricular system. The impairment of the ventricular system typically results in hydrocephalus. Hydrocephalus is a pathological enlargement of the liquor-filled cerebral ventricles. Hydrocephalus is also called hydrocephalus.

Epileptic seizures are typical of tuberous sclerosis. They often appear in the first few months of life. West syndrome can develop in infants. It is a generalized malignant epilepsy associated with lightning seizures, nodding seizures and salaam seizures. The more frequent the seizures, the more learning difficulties the children have.

Learning disabilities are a major problem in tuberous sclerosis. Development is often impaired. Difficulties arise, especially in the development of speech and movement. Behavioral problems can also occur. However, half of all patients with tuberous sclerosis have a normal intelligence quotient. Serious limitations are present in 30 percent of patients.

Skin changes can occur in different degrees. Harmless pigment disorders appear first. In later childhood, reddish nodules develop in the area of ​​the nasolabial folds. These are also known as angiofibromas. “Shagreen patches” are also typical of the disease. These are slightly raised firm skin lesions around the lower back. Reddish fibromatous nodules develop at the nail fold in a quarter of patients. These are also called Koenen tumors.

Tumors can also occur in other organ systems. The kidneys often show cysts or angiomyolipomas. Normally, however, these tumorous changes do not cause any symptoms. However, there is a risk that the tumors will become malignant. The lungs and other organs of the body can also form tumors as the disease progresses.

Diagnosis & course of disease

The diagnosis of tuberous sclerosis is difficult, especially in small children. The main features of the disease include facial angiofibromas, nail fold tumors, cortical tubules and retinal hamartomas. Minor features include, for example, confetti spots of the skin, renal cysts or unpigmented spots of the retina.

Tuberous sclerosis is considered established when two major features or one major feature and two minor features are present. If a major feature and a minor feature are present, tuberous sclerosis is likely. If there is one major feature or two minor features, there is at least a suspicion of tuberous sclerosis.

If the disease is suspected, various imaging methods such as ultrasound or computer tomography are used. The diagnosis can be confirmed by molecular genetics by detecting a gene mutation. However, a mutation in the TSC genes can only be detected in 85 percent of all cases of the disease.

Complications

In this disease, those affected primarily suffer from various malformations that occur directly in the brain. This usually leads to cognitive and motor impairments. Furthermore, the disease can also lead to mental retardation, so that those affected are always dependent on the help of other people in their everyday life.

The disease can also lead to epileptic seizures and, in the worst case, even lead to the death of the person concerned. The patients also have severe learning disabilities and therefore require intensive care. In some cases, the disease can also cause pigment disorders, which, however, do not have any further negative impact on the patient’s health.

The internal organs can be affected by tumors and must therefore be examined regularly. The life expectancy of those affected may also be significantly reduced. Since a causal treatment of this disease is usually not possible, only the individual symptoms can be restricted.

There are no further complications. Epileptic seizures can be relieved with medication. However, complete healing is not achieved. In many cases, parents and relatives also need psychological treatment.

When should you go to the doctor?

Since this disease cannot heal itself, the affected person must consult a doctor. This is the only way to prevent further complications. The earlier the disease is recognized and treated, the better the further course.

A doctor should be contacted if the person affected has various malformations in the brain. Epilepsy can also indicate this disease and should also be examined by a doctor. In some cases, those affected by this disease also suffer from nodding seizures, so that there can be a significant delay in development in children. Complaints when learning or speaking are also strong indications of this disease. Changes on the skin can also indicate these symptoms.

The disease itself can be diagnosed by a pediatrician or by a general practitioner. In most cases, the treatment is then carried out by a specialist and depends on the exact severity of the symptoms.

Treatment & Therapy

A causal therapy of the disease is currently not possible. Treatment is purely symptomatic and largely focuses on epilepsy. Antiepileptic drugs (anticonvulsants) are used to treat epilepsy. These drugs are designed to prevent epileptic seizures.

Around 80 percent of patients can achieve freedom from seizures with the help of the medication. If it is not possible to prevent the seizures completely, at least the severity and frequency are reduced.

Prevention

Tuberous sclerosis cannot be prevented. Molecular genetic testing is recommended if family members already have tuberous sclerosis.

Aftercare

There is no causal therapy for tuberous sclerosis. The therapy is only symptomatic and mostly relates to the epilepsy. Those affected are extremely limited in their lives with the disease. The help of the family and relatives cannot be dispensed with. It is recommended that sufferers seek counseling from a psychologist.

This can help how to best deal with the disease and how to make everyday life more worth living. Visiting a self-help group would also be beneficial for those affected. There you can get tips and other opinions on living with tuberous sclerosis. Above all, those affected can talk to people who are also ill and do not feel alone.

Those affected should always ensure an extremely healthy lifestyle. This means that nicotine, alcohol and drugs should be avoided. You should also pay attention to a balanced and vitamin-rich diet. Those affected must ensure that they are not overweight. For this reason, you should do enough sport. In any case, a healthy sleep rhythm must be observed. If those affected want to have children, it is advisable to undergo genetic counseling in advance.

You can do that yourself

Since this condition is genetic, it cannot be cured. But their symptoms can be alleviated – depending on the severity. First and foremost, the parents of the affected children are called upon to do this. The earlier cognitive and motor impairments are recognized, the quicker they can be treated and compensated for. Medicines can be given to counteract the epileptic seizures. Parents should monitor their intake until the child is old enough to deal with the disease themselves.

Depending on the severity of the symptoms, tuberous sclerosis is a very stressful disease. In many cases, it is therefore necessary for those affected and their relatives to undergo accompanying psychotherapy . They may also benefit from attending a self-help group. Corresponding addresses and information on this are given by the association Tuberous Sclerosis Germany eV (www.tsdev.org). If those affected need support in coping with their everyday life, the above-mentioned association also gives practical advice on social assistance.

As with all chronic diseases, those affected should ensure a healthy lifestyle. This includes eating a diet rich in vitamins and nutrients, exercising, avoiding nicotine and alcohol and ensuring a regular sleep/wake cycle. Adult patients with tuberous sclerosis who wish to have children should seek genetic counseling beforehand.

Tuberous Sclerosis