Tubular sclerosis (or Bourneville disease) is a rare genetic disease. The disease manifests itself in the form of benign tumors in many tissues and organs. Translated from the Latin tuber means "growth, swelling." For the first time in the middle of the 19th century, the French neuropathologist Bourneville gave a clinical picture of this anomaly, which is why she received his name. When the disease affects the brain, heart, kidneys, lungs, fundus of the eye, specific neoplasms appear on the skin. With timely diagnosis, symptomatic treatment immediately begins, which prevents the development of complications.
Description of the disease
The disease affects both the male half of the population and the female, and with the same frequency. With hereditary transmission, it is not detected immediately, but within a year or in adolescence. Only a third of tuberous sclerosis is due to a hereditary factor, in other cases the disease appears inthe result of spontaneous, unpredictable genetic mutations. Damage to the nervous system is predominant in the disease. The most characteristic manifestations are convulsions, mental retardation, deviations from the norm of behavior, and a decrease in intelligence.
There are tumors of the retina and optic nerve, which leads to a decrease in vision. There are changes in the cardiovascular system with the formation of tumors located in the thickness of the muscle. The disease is always accompanied by changes in the skin. Pigmented spots appear on the face and back, areas of rough dermis stand out, periungual fibromas and plaques form. White areas appear on the eyelashes, eyebrows and strands of hair. If you suspect a disease, you should immediately consult a doctor and undergo a comprehensive examination to reduce the risk of various complications.
Causes of disease
The main cause of tuberous sclerosis is a gene mutation of the ninth and sixteenth chromosomes without visible prerequisites. As a result, there is a violation of the formation of proteins: hamartin and tuberin, which are responsible for cell division and growth. This leads to pathological changes in nerve cells and inadequate development of certain parts of the brain.
The hereditary factor influences the development of pathology. If one of the parents has the disease, there is a high risk of passing it on to the child. Another form (sporadic) is also known, which arises without any apparent reasons and prerequisites, spontaneously at different periods of life and at any age, andthe disease is severe. The course of the family or genetic form is characterized by mild severity.
Disease symptoms
Tuberous sclerosis affects different tissues, organs and systems, so the signs of the disease will be different. Most often, the nervous system suffers. This shows:
- Moderate dementia - oligophrenia, occurs in half of the patients.
- Convulsive syndrome - the development of the disease just begins with convulsions in babies of the first year of life. With age, this syndrome turns into epileptic seizures. They lead to intellectual impairment and become the main cause of disability.
Skin lesion is characterized by:
- The formation of age spots. For some, they appear from birth, for others - from the age of two. With the growth of the child, their number increases, they are located asymmetrically on the buttocks, torso and limbs.
- In children, the symptoms of tuberous sclerosis (photo below) appear on the dermis of the face and body with multiple small nodules of yellowish and pink color. Most often, these symptoms occur in adolescents.
- The appearance of "shagreen dermis" - coarsened skin on the back and buttocks.
- Fibrous plaques that are located near the nail plates of the hands, and after puberty - and near the nails of the lower extremities.
Ophthalmic changes:
- neoplasms on the retina and optic nerve have a smooth or nodularsurface;
- decrease in acuity and narrowing of the field of view;
- optic nerve edema;
- violation of pigmentation of the iris;
- cataract;
- strabismus.
Symptoms of tuberous sclerosis with damage to internal organs:
- heart rhythm disorder;
- cancerous tumors;
- cystic formations on the kidneys and lungs;
- impaired lung function;
- rectal polyposis;
- neoplasms in the oral cavity;
- erasing tooth enamel;
- intrauterine fetal death.
Internal organs often have multiple lesions that can occur throughout life.
In addition to these signs, there are the following characteristic symptoms of tuberous sclerosis in children:
- loss of interest in everything new;
- increased moodiness;
- difficulty shifting attention;
- delayed response;
- disturbances of sleep and wakefulness.
Diagnosis of disease
To make a diagnosis, you must do:
- Interrogation of the patient. The doctor finds out complaints, the time of manifestation of the disease, whether there were similar cases in other relatives.
- External inspection. The skin is examined for the presence of rashes and areas of discolored dermis.
- General analysis of urine and blood. The content of protein and erythrocytes is monitored to establish the pathology of the kidneys.
- Tuberous sclerosis test TSC1 protein hamartin and TSC2 protein tuberin are performednot in all laboratories. Where to do this, the attending physician will tell you.
- Ultrasound examination of the kidneys to detect neoplasms.
- Ultrasound of the heart shows changes in the organ.
- Electroencephalography of the brain detects lesions.
- CT and MRI are done to confirm the diagnosis.
- Consultation of a dermatologist, ophthalmologist, neurologist, nephrologist, cardiologist, geneticist.
After the diagnosis of tuberous sclerosis, where all examinations, specialist consultations and test results were taken into account, a course of therapy is prescribed.
Treatment of disease
Bourneville's disease is completely impossible to cure. The main goal of treatment is supportive therapy and, if necessary, surgical intervention, so that the patient can live a normal life. Most often, complex treatment is used, in which medicines are prescribed:
- corticosteroids to reduce or eliminate seizures;
- cardiovascular drugs for tumors in the muscles of the heart;
- antihypertensive drugs to reduce pressure in case of kidney damage;
- hormonal, preventing further damage to the lungs.
Children require ongoing psychotherapist consultations to combat mental retardation. In addition, it is necessary to follow a special diet that contains a minimum of proteins and carbohydrates and an increased amount of fat. Antidepressants and anticonvulsants, along with dietary intake, may help reduce epileptic seizuresand possibly be excluded entirely.
Surgical treatments for tuberous sclerosis are used to:
- removal of brain tumors that cause seizures and spasms;
- destruction of polyps in the gastrointestinal tract using colonoscopy;
- cancellation of neoplasms that interfere with the outflow of cerebrospinal fluid;
- eliminate growths in the kidneys;
- cauterization of enlarged hamarts on the retina;
- eliminate significant bumps on the surface of the skin with a laser, liquid nitrogen and high frequency current.
Surgical treatment is carried out as a last resort: when a benign tumor degenerates into a malignant neoplasm, deformation of internal organs and increased cranial pressure. The patient needs to stop attacks in time, follow a diet and, in extreme cases, resort to surgical intervention.
Tuberous sclerosis of the brain
With the disease, dementia occurs, epileptic seizures occur, nodular intracranial tumors form, which eventually become covered with calcium phosphate crystals. With the X-ray method of research, calcifications and incorrectly tortuous vessels, capillaries and small veins of the pia mater are isolated on the surface of the brain.
Disturbance of mental development becomes noticeable in the first two years of life. It manifests itself in half of patients with this disease and is expressed in severe or moderate form. Epilepsy seizures appear from infancy, starting with infantilespasms. It is epilepsy that often causes disability in a child. In addition, there are changes in behavior, patients suffer from autism, hyperactivity, auto-aggression and aggression, which is directed at people around them.
It has been observed that the early manifestation of the disease leads to severe mental retardation and behavioral disorders. Patients often have trouble sleeping and suffer from insomnia, frequent awakenings, and unconscious sleepwalking.
Disease development in young patients
Tuberous sclerosis (a photo of symptoms is presented below) is characterized by the formation of benign tumors on organs and skin. Severe disease is uncommon, mainly affecting one or more organs. According to medical statistics, the disease is considered rare, although medical professionals are sure that it occurs much more often than it is diagnosed. The disease is transmitted by heredity, but parents with damaged genes can also have completely he althy babies.
Sick children have mental retardation, problems with learning and the norm of behavior, autism is manifested. Along with the problems of mental development, speech improvement is inhibited. Babies under one year often suffer from infantile spasms that last a few seconds and repeat many times a day. At the age of five, they can stop spontaneously or transform into another type of seizures. This happens due to seriousbrain damage and abnormal development of the nervous system. In addition, the formation of plaques on the retina of the eye, which is detected by an ophthalmologist during examination, is common. Almost 100% of children with tuberous sclerosis show skin symptoms:
- Appearance in infancy and early childhood of pale spots (maculae), which are asymmetrically located throughout the body, except for the hands and feet. With age, angiofibromas (benign tumors) of the face are formed.
- The formation of shagreen spots (rough areas of the dermis) on the buttocks and in the lumbar region even in the womb.
- Fibrous plaques with a light beige tint. Localized on the forehead and head.
- Modified fibromas are located throughout the body. These are soft formations, shaped like a small pouch on a leg.
- Perungual fibroma appears near or under the nails. Formed during adolescence, does not occur in infancy.
With this pathology, most organs are affected, and first of all, the functions of the heart are disturbed, which leads to serious problems.
Treatment of disease in children
Until now, doctors have not found a method that can cure the symptoms of tuberous sclerosis completely. Only supportive treatment is carried out to alleviate the patient's condition. The following symptomatic treatment is carried out:
Clonazepam, Nitrazepam, Carbamazepine, Diacarb are used for convulsions. Drugs stop seizures, slowing down the process of mental underdevelopment
- Skin lesions are treated with a laser and dermatoabrasion (removal of the top layer of the skin). After treatment, neoplasms may reappear.
- Hypertension. It appears due to a violation of the kidneys. They take drugs to reduce pressure and resort to the removal of advanced tumors.
- Developmental delay. Provide special training and appropriate occupational therapy.
- Heart failure. Therapeutic agents are used for correction.
- Neurobehavioral problems. Prescribe medications or use special behavior management techniques.
- Increased intracranial pressure. The resulting tumors are removed surgically.
Treatment of tuberous sclerosis in children, started at an early age, relieves symptoms and prolongs life.
Complications and consequences of the disease
The main complications of the disease include:
- Epileptic attacks. They lead to status epilepticus, when seizures follow one after another for more than half an hour and the patient remains unconscious all this time.
- Kidney damage. This is expressed in chronic renal failure. In this case, the patient undergoes an operation to remove the tumor, the condition returns to normal.
- Impaired vision. The characteristic formation of tumors on the retina or near the optic nerve contributes to reduced vision. In addition, cataracts, strabismus occur, the iris changes. Treated by surgery.
- Accumulation of intracranial fluid. This leads to dropsy of the brain. The patient complains of headache accompanied by nausea and vomiting.
- Rhabdomyomas in the heart. Tumors formed in childhood interfere with normal blood circulation, causing arrhythmia. Subsequently, they decrease.
With all complications, symptomatic treatment is carried out.
Tubular sclerosis. Prognosis and treatment
The prognosis of Bourneville's disease largely depends on the severity of the disease. A mild form provides an opportunity to lead an active lifestyle, with a severe one, disability occurs. Most patients with proper treatment live more than a quarter of a century, in other cases - no more than five years. Severe complications of important organs require constant attention and supportive care. Otherwise, he alth problems can lead to death. To prevent the development of complications, patients should be under the supervision of doctors all their lives and strictly follow their prescriptions. Thanks to the development of medicine, convulsions in babies are eliminated with medicines, at an older age, epileptic seizures are eliminated using chemotherapy, skin defects are removed with a laser, and intracranial pressure is normalized by shunting. All this helps to improve the quality and duration of life with tuberous sclerosis.
