Tuberous Sclerosis: Symptoms and Treatment

Tuberous sclerosis or Burneville’s disease is a disease characterized by damage to the human nervous system, the manifestation of polymorphic skin symptoms, and the progression of tumor or non-tumor processes in vital organs. Sporadic cases of the formation of an ailment are also known. The latter account for more than half of the cases.



This disorder can be expressed from the first years of life, but often manifests itself during puberty. Tuberous sclerosis provokes the emergence of a large number of benign tumors in all the body. Such tumors are called hamartomas. They consist of tissues similar to those in which they develop, but their structure is anomalous. The location of their localization is different, but often occurs in the brain, kidneys, on the skin and eyes.

The main signs of this disorder are:


  • seizures of various intensity (a person may be conscious)
  • on the skin, in addition to malignancy, small patches of discoloration can be observed
  • visual impairment, in particular narrowing of its fields, episodes of epilepsy
  • in children, such a disease causes mental retardation.

According to statistics, Burneville’s disease is diagnosed several times less often than it actually occurs. This is due to the fact that some forms of ailment, namely the manifestation of its nonspecific signs, are not taken into account. Thus, very often it happens that having such a disorder, the patient is observed in other specialists of narrow specialties who are unable to establish the cause of the spontaneous appearance of symptoms in this or that period of life.

In order to make the correct diagnosis, specialists need to conduct laboratory tests of blood and urine. The complex also includes instrumental examinations of the nervous system and brain using MRI, CT and ECG, ophthalmologic examination, and the study of the functioning of internal organs by ultrasound and radiography.

Treatment of the disease is based on the complete elimination or reduction of the manifestation of epileptic seizures, correction of the nervous system and the psychological state of the patient, timely surgical eradication of neoplasms. The prognosis of the outcome of the disease mainly depends on the correct individual therapy tactics, the degree of changes in the brain and nervous system, the presence of disorders or deformations in the structure of internal organs caused by tumors.

Etiology

The main cause of tuberous sclerosis is the gene mutation of the ninth and sixteenth chromosomes, often occurring without any prerequisites. At the same time, the formation of certain proteins, in particular tuberin and hamartine, which are responsible for cell growth and division, is disrupted. Against this background, pathological changes are formed in the nerve cells, which can serve as a factor for the inferior development of certain areas of the brain.

The principle of inheritance of the disease is autosomal dominant. This means that if one of the parents is sick in the family, there is a high probability of the birth of a sick child. But this form of the disease is known, which is formed regardless of genetic factors and arises spontaneously at any moment of life.

Species

Depending on the cause of the onset, several forms of Burneville’s disease are distinguished:


  1. genetic — is formed in children whose family has a similar disease diagnosed with a close relative. The probability of producing a sick child is fifty percent;
  2. sporadic — is formed without any reasons and is not hereditary in nature. It can occur spontaneously, without any prerequisites, at any age and period of life.

According to the degree of leaks, there are:


  • severe form — characteristic of a sporadic type of disorder
  • light — this degree is observed in the family type of the disease.

Symptoms

Since Tuberous sclerosis affects several tissues, organs and systems of the human body at the same time, it is natural that the symptoms of the disease will differ depending on the location of the pathological process. The most dominant signs of the disease are lesions of the nervous system. Often expressed:


  1. convulsive syndrome. It usually begins the development of this disorder. The strongest muscle contractions are observed in infants in the first year of life. The older the child becomes, the less intense the cramps;
  2. Oligophrenia is moderate dementia or mental retardation. Accompanies the course of the disease in half the cases.

Symptoms that characterize the lesions of the skin:


  • formation of pigmented spots. They begin to manifest themselves approximately in the third year of the child’s life, and with the time of maturation, their increase in size is observed. Often they are asymmetrically located on the buttocks, trunk, upper and lower extremities. In some cases, spots of hyperpigmentation are formed, but there are no more than five of them;
  • appearance on the face of a large number of small knots of pink or yellow hue. Practically all patients are observed. They are formed mainly in children over the age of four;
  • the appearance of a hamart — in the medical field they are called the syndrome of «shagreen skin». These are areas of coarse skin, often in the back and buttocks. By volume can vary from a few millimeters to ten centimeters. Formed in children and adolescents in the period of life from ten to twenty years;
  • fibrous plaques — look like small reddish nodules that surround the nail plates. After puberty, these new growths can spread to the skin of the feet.

Ophthalmic manifestations of tuberous sclerosis are rare. They can be:





  1. retinal or optic nerve hamartomas. Neoplasms can have a smooth surface. Sometimes they look like nodules, and in some cases a mixed type of hamart is observed;
  2. reduced acuity and decreased visual fields
  3. depigmentation of the iris;
  4. optic nerve swelling;
  5. Strabismus
  6. Cataract.

Symptoms of internal organs are characterized by multiple character, bilateral defeat. The period of their duration can vary from five to forty years. Such characteristics include:


  • cancerous growths
  • irregular heartbeat;
  • formation of cysts on the lungs and kidneys
  • occurrence of a hamart on the liver
  • heart failure;
  • intrauterine fetal death
  • pulmonary function disorder
  • swelling in the mouth
  • rapid erasure of tooth enamel
  • the appearance of polyps in the rectum.

Often, the death of tuberous sclerosis leads to lesions of the nervous system, brain and kidney pathology. But due to the fact that any changes in the body are detected during laboratory tests and instrumental examination, a lethal outcome can be avoided.

In addition to the above symptoms, there are some signs that are characteristic only of babies. Thus, manifestations of tuberous sclerosis in children are:


  1. increased capriciousness
  2. slowing down the response;
  3. Lack of interest in new toys or acquaintances
  4. disturbed sleep and wakefulness, frequent nocturnal awakenings
  5. difficulties with the switchability of attention.

Complications

In cases of incorrect tactics or untimely treatment, a number of complications may develop that will continue throughout the life of the patient. The most severe of these is an epileptic condition caused by impairments from the brain, in which strong convulsions are present. A person in this case, in general, can not come to consciousness, or be in consciousness for a short time, after which spasms arise repeatedly.

The second, quite common complication, may be a violation of the outflow of cerebrospinal fluid. It begins to accumulate in the skull, thereby stretching it and squeezing the brain tissue. In addition, the consequence of the ailment may be renal failure, which takes on a chronic character.

Diagnostics

It is possible to diagnose tuberous sclerosis only by joint efforts of specialists from several fields of medicine. In particular, it is a neurologist, ophthalmologist, dermatologist, cardiologist and nephrologist. The first thing that needs to be done is to find out the nature of the onset of the disease, the presence and the degree of intensity of the manifestation of the symptoms. The evaluation of intellectual disorders and convulsive seizures is seen.

Diagnostic measures include:


  • laboratory examination of urinalysis. It is necessary to detect impurities of blood, which speak about the presence or absence of kidney pathology;
  • biochemical blood test — in this disease there is a possibility of a high content of creatinine and uric acid. These are signals of kidney damage;
  • complex examination of internal organs with the help of ultrasound, ECG, radiography, colonoscopy and sigmoidoscopy
  • Scanning tomography of the retina;
  • CT and MRI of the brain — have the highest diagnostic value, since they speak about the degree of disorders in the central nervous system
  • genetic examination.

Additional differential diagnosis is prescribed for the detection of symptoms of the disease from the side of the skin.

Treatment

It is impossible to achieve a full cure for Burneville’s disease. The main goal of the treatment is to ensure a normal life for the patient. There are several ways of therapy — medication and with the help of surgical intervention. But often they use complex treatment. Assign medications for:


  1. reducing or completely eliminating epileptic seizures, depending on their intensity
  2. prevention and control of pathological processes of the nervous system.

Surgical treatments for tuberous sclerosis include:


  • elimination of neoplasms in the brain that cause seizures
  • elimination of tumors blocking the outflow of cerebrospinal fluid. To do this, open the cranial cavity;
  • evaporation and moxibustion of the retina of the eye;
  • removing nodules from the skin of the face, trunk and extremities by exposing them to liquid nitrogen, electric current, or laser radiation

In most cases, treatment with the help of surgery is appointed when there is a significant deformation of the internal organs or with the suspicion of specialists to convert a benign tumor into an oncology.

Therapy in mental disorders includes a complex psychological support for the child. Removal of the brain tumor by surgical means is prescribed with its rapid increase and increase in intracranial pressure. The use of stimulating neuro-drugs is impossible because of epilepsy.

Prevention

Specific prevention of tuberous sclerosis does not exist, because the disease is formed due to spontaneous genetic disorders. The consultation of a geneticist is necessary when planning a pregnancy by people whose families have had cases of a similar disorder.




With proper treatment, the prognosis of the disease is quite favorable. In most cases, patients live more than one decade. Life expectancy is completely dependent on the progression of the disease.