Tuberous sclerosis, or Bourneville’s disease, is a genetic disease accompanied by the formation of multiple tumor processes in various organs. Such neoplasms are similar to small tubercles, which often appear on different parts of the skin. In addition to the dermatological manifestation of tuberous sclerosis, tumor processes caused by this disease often affect the following structures of the body:

  • lung tissue;
  • the brain structures;
  • mucous membranes;
  • various parts of the gastrointestinal tract.

As a genetic disorder, Bourneville disease manifests itself in most cases from birth and is diagnosed in the first years of life. The main reason for the development of the disease is a mutation at the gene level. So, there are two forms of tuberous sclerosis:

  • the first form – the onset of the disease is caused by a mutation in chromosome 9;
  • the second form – the pathological process develops when chromosome 16 is damaged.

Both of these chromosomes perform the same function – the synthesis of specific protein compounds in the body; when one of these chromosomes mutates, the immune system malfunctions, which becomes unable to suppress the formation of tumors.

Taking into account the described mechanism of the development of the disease and the peculiarities of its course, patients with such a diagnosis require specific and complex treatment.

Neurological disorders: about the disease and its treatment

Tuberous sclerosis (Bourneville’s disease) is a rare genetic disorder; it can be inherited from a parent or result from a spontaneous genetic mutation. One in 6,000 to 10,000 newborns has a mutation in one of the genes that cause the disease.

The multisystem nature of tuberous sclerosis is expressed in the defeat of almost all organs – the brain, central nervous system, kidneys, heart, skin, retina, digestive tract, lungs, etc.

The manifestations of tuberous sclerosis that majorly affect the quality of life are most often associated with its effects on the brain and include epileptic seizures and developmental delay, including mental retardation, and autism. However, many patients can live a fully independent life and be professionally in demand, working as doctors, lawyers, teachers, engineers, etc.

Symptoms of tuberous sclerosis

symptoms and diagnosis of tuberous sclerosis

This disease is quite rare, and therefore not fully understood. Its signs are varied, many organs and systems are affected, and therefore sometimes an accurate diagnosis can be made only after a comprehensive examination.

Usually, the first symptoms of the disease are polymorphic formations on the skin. On different parts of the body, there are nodular tubercles with a diameter of 0.5 to 1 cm (more often on the face – nose, cheeks, scalp) and spots in the form of “leaves”. Such depigmented areas of a milky coffee or whitish color on the skin can appear anywhere on the body. The probability of their occurrence in newborns under one year old is 80%, in the second year – up to 100%. The number of areas with uneven depigmentation increases as the child grows up. In 15% of cases, both types of stains can occur – both whitish and coffee-milk.

In addition to the skin, the signs of this type of sclerosis include:

With myoclonic seizures, the patient does not lose consciousness; individual muscle groups involuntarily and randomly contract. Such abnormal shock muscle twitching quickly disappears.

With tonic-clonic convulsive generalized seizures, a person suddenly loses consciousness. With massive spasm, involuntary separation of urine and trauma to the tongue can occur (the patient can bite it).

Hemianopsia is a partial loss of a person’s visual field with limited space around it.

Symptoms and diagnosis of tuberous sclerosis

Both forms of tuberous sclerosis have similar symptoms. Differences in the clinical picture depend only on which structures of the body were affected by tumor processes.

The most characteristic clinical signs:

  • age spots on the skin at birth with localization mainly on the buttocks and trunk (spots have a dark shade, can change size and shape, and their number increases with age);
  • areas of depigmentation (gray hair) on hair, eyelashes, eyebrows;
  • with age, bumps form on the face (cheeks, nose);
  • many patients have visual impairments);
  • in some cases, periungual fibroids are formed.

Neurologists, dermatologists, cardiologists, ophthalmologists, and other specialists are involved in the diagnostic process in our clinic. 

To make the final diagnosis, several laboratory and instrumental studies are carried out, among which the main ones are:

  • detailed blood test;
  • general clinical examination of urine;
  • blood chemistry;
  • echocardiography;
  • ultrasound examination of the abdominal and retroperitoneal organs;
  • magnetic resonance imaging of the brain;
  • echoencephalography.

Treatment of tuberous sclerosis

Even taking into account the current level of development of medicine in Germany, today, there are no etiological or pathogenetic methods of treating tuberous sclerosis. However, thanks to diagnostics and the involvement of experienced doctors, it is possible to select symptomatic therapy, significantly improving the patient’s quality of life.

Conservative one

Within the framework of conservative therapy, Vivantes clinic specialists develop a treatment plan for each patient individually, taking into account the characteristics of the course of the disease, the degree of its progression, and several other factors.

The most popular groups of drugs selected for the patient based on the clinical picture are:

Anticonvulsants – medicines of this group are relevant in forming neoplasms in the brain area. In this case, damage to the central nervous system occurs, and patients suffer from seizures. Doctors select anticonvulsants that can be taken regularly to relieve these seizures.

Neurostimulants and neurotropic drugs – these drugs are often prescribed already in childhood to resist the progression of pathology, to avoid developmental delays and other manifestations of mental retardation.

Osmotic diuretics – their use is relevant when the formation of tumors provokes an increase in intracranial pressure.

ACE inhibitors and beta-blockers – agents of these groups become part of complex therapy in cases of heart damage, development of heart failure, etc.

drug treatment of tuberous sclerosis

Depending on what anatomical structures were lesions of tuberous sclerosis, drug treatment is selected individually. At the same time, it is crucial to understand that the drugs prescribed by the doctor are for life; over time, adjustments are made only to the therapy.

Surgical

Surgical interventions are carried out in cases where neoplasms carry the risk of the patient’s life. For this, the best surgeons and neurosurgeons are involved in our clinic, using the latest equipment. The demanded operations for tuberous sclerosis include:

  • removal of tumors in the brain;
  • excision of polyps in the gastrointestinal tract;
  • nephrectomy for renal bleeding;
  • dermabrasion to remove blemishes on the skin.

Rehabilitation after tuberous sclerosis

The tactics of the rehabilitation period are also individually selected for each patient of the clinic, based on the characteristics of the clinical case.