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, as well as the progression of tumor or non-tumor processes in vital organs. Sporadic cases of the disease are also known. The latter account for more than half of the cases. The giandliverconsultants provide the best gastrointestinal consultants in USA.

This disorder can be expressed from the first years of life, but often manifests itself during puberty. Tuberous sclerosis provokes a large number of benign tumors in all bodies. Such tumors are called hamartomas. They consist of tissues similar to the organs in which they develop, but their structure is abnormal. Their location is different, but most often occur in the brain, kidneys, skin and eyes.

 

The main signs of this disorder are:

·         seizures of varying intensity (a person may be conscious);

·         on the skin, in addition to tumors, small areas of discoloration may be observed;

·         visual disturbances, including narrowing of the fields, episodes of epilepsy;

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 the disease, namely the manifestation of its non-specific symptoms, are not taken into account. Thus, it often happens that having such a disorder, the patient is observed in other specialists in narrow specialties, who are unable to establish the cause of spontaneous symptoms at one time or another in life.

In order to make a correct diagnosis, specialists need to perform laboratory tests of blood and urine. The complex also includes instrumental examinations of the nervous system and brain using MRI, CT and ECG, ophthalmological examination, as well as 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 epileptic seizures, correction of the nervous system and the psychological state of the patient, timely surgical removal of tumors. The prognosis of the disease mainly depends on the correct individual tactics of therapy, the degree of changes in the brain and nervous system, the presence of disorders or deformities of the structure of internal organs due to tumors.

Etiology

The main cause of tuberous sclerosis is a gene mutation on the ninth and sixteenth chromosomes, often occurs without any preconditions. This disrupts the formation of some proteins, including tuberin and hamartin, which are responsible for cell growth and division. Against this background, pathological changes in nerve cells are formed, which may be a factor in the defective development of some parts of the brain.

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

Depending on the causes, there are several forms of Burneville disease:

genetic - is formed in children in whose family a close relative was diagnosed with a similar disease. The probability of giving birth to a sick child is fifty percent;

sporadic - is formed without any reason and is not hereditary. It can occur spontaneously, without any preconditions, at any age and period of life.

As they proceed, there are:

severe form, characteristic of the sporadic type of disorder;

mild - this degree is observed in the family type of disease.

Symptoms

Since tuberous sclerosis affects several tissues, organs and systems of the human body, it is natural that the symptoms of the disease will vary depending on the location of the pathological process. The most dominant signs of the disease are lesions of the nervous system. The most common are:

convulsive syndrome. It usually begins with the development of this disorder. The strongest muscle contractions are observed in infants in the first year of life. The older a child gets, the less intense the seizures are;

oligophrenia - moderate dementia or mental retardation. Accompanies the course of the disease in half of the cases.

Symptoms that characterize the lesions of the skin:

Formation of pigment spots. They begin to appear around the third year of life, and later as they grow older, they increase in size. Most often they are asymmetrically located on the buttocks, torso, upper and lower extremities. In some cases, hyperpigmentation spots are formed, but there are no more than five of them;

the appearance on the face of a large number of small nodules of pink or yellow hue. It is observed in almost all patients. They are formed mainly in children older than four years of age;

appearance of hamart - in the medical field they are called "shale skin" syndrome. These are areas of roughened skin, most often in the back and buttocks. Volumes 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 - have the appearance of small reddish nodules that surround the nail plates. After puberty, these tumors can spread to the skin of the feet.

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

·         retinal or optic nerve hamartomas. Neoplasms may have a smooth surface. Sometimes they look like nodules, and in some cases there is a mixed type of hamart;

·         reduction of acuity and reduction of fields of vision;

·         depigmentation of the iris;

·         optic nerve edema;

·         strabismus;

Symptoms of damage to internal organs are multiple in nature, bilateral lesions. Their duration can vary from five to forty years. Such signs include:

·         cancerous neoplasms;

·         abnormal heartbeat;

·         formation of cysts on the lungs and kidneys;

·         occurrence of hamart on the liver;

·         heart failure;

·         fetal death;

·         lung dysfunction;

·         tumors in the mouth;

·         quick abrasion of tooth enamel;

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

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

·         increased capriciousness;

·         slow reaction;

·         lack of interest in new toys or acquaintances;

·         sleep and wakefulness disorders, frequent night awakenings;

·         difficulties with switching attention.

Tuberous sclerosis symptoms and treatment

In cases of incorrect tactics or untimely treatment, a number of complications can develop that will last throughout the patient's life. The most severe of these is an epileptic condition caused by a disorder of the brain in which there are severe seizures. The giandliverconsultants provide the best liver consultants in USA. The person may not regain consciousness at all, or remain conscious for a short time, after which spasms occur again.

The second most common complication may be impaired cerebrospinal fluid outflow. It begins to accumulate in the skull, thereby stretching it and squeezing the brain tissue. In addition, the disease can result in renal failure, which becomes chronic.

Diagnosis

The diagnosis of tuberous sclerosis can be made only by the joint efforts of specialists in several fields of medicine. In particular, it is a neurologist, ophthalmologist, dermatologist, cardiologist and nephrologist. The first thing to do is to find out the nature of the disease, the presence and severity of symptoms. Intellectual disorders and seizures are assessed.

Diagnostic measures include:

laboratory study of urine tests. It is necessary to detect blood impurities that indicate the presence or absence of renal pathology;

biochemical analysis of blood - in this disease there is a possibility of elevated creatinine and uric acid. These are signals of kidney damage;

Retinal tomography;

CT and MRI of the brain - have the highest diagnostic value, as they indicate the degree of disorders in the central nervous system;

Treatment

Complete treatment for Burneville disease is impossible to achieve. The main goal of treatment is to ensure the normal life of the patient. There are several methods of therapy - medication and surgery. But most often used comprehensive treatment. Prescribe drugs for:

·         reduction or complete elimination of epileptic seizures, depending on their intensity;

·         prevention and control of pathological processes of the nervous system.

·         Surgical treatments for tuberous sclerosis include:

·         elimination of tumors in the brain that cause seizures;

·         elimination of tumors that block the outflow of cerebrospinal fluid. To do this, open the cranial cavity;

·         evaporation and cauterization of the retina;

·         removal of nodules from the skin of the face, torso and extremities by exposure to liquid nitrogen, electric current or laser radiation.

In most cases, treatment with surgery is prescribed when there is a significant deformation of the internal organs or when specialists suspect the transformation of a benign tumor into oncology.

Therapy of mental disorders includes comprehensive psychological support of the child. Removal of a brain tumor by surgery is prescribed for its rapid increase and increase in intracranial pressure. Intake of stimulating neuro preparations is impossible due to epilepsy.

Prevention

There is no specific prevention of tuberous sclerosis, as the disease is formed due to spontaneous genetic disorders. Consultation with a geneticist is necessary when planning a pregnancy for people whose families have had cases of similar disorders.

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