Every parent wants his baby to grow up healthy. Today, it is impossible to protect yourself and your child from all diseases. Despite this, parents should notice any little things that can say that your child is unwell. At the slightest skin rashes or seals it is very important to consult specialists, as this may be the first signs of tuberous sclerosis.
Tuberous sclerosis: a description of the disease
Tuberous sclerosis, which has another name - Burneville disease, is considered a hereditary disease. This disease provokes the emergence of many benign tumors in the entire human body.
According to some reports, one child with this disease is born from about 8 thousand.
There are two types of Tuberous Sclerosis: 1st and 2nd type. The first is manifested in mutational changes on the 34th long arm of the 9th chromosome. The second is manifested in mutational changes on the 13th short arm of the 16th chromosome.
These chromosomes are responsible for the synthesis of such proteins as tuberin and hamartine. This leads to the inability of the body to suppress the occurrence of tumor-like formations on all tissues of the body.
In the International Classification of Diseases 10( ICD 10), tuberous sclerosis refers to the phacomatosis Q85.1.
In children
Tuberous sclerosis is transmitted genetically by and from the first days of the birth of a baby it can be difficult to accurately diagnose. To find out the primary signs, it is necessary to conduct a comprehensive examination of the child.
First you should consult an ophthalmologist who can examine the fundus and identify the presence of a tumor-like formation in it. Then it will be necessary to undergo examination at the dermatologist, who will carefully examine the child for the presence of rough spots on the baby's body or any seals.
Additionally, you can be referred to special procedures for detailed medical research.
The first signs of the disease manifest up to a year. The baby can have nerve convulsions, which will be difficult to stop. The main treatment will be aimed specifically at eliminating such seizures, because these symptoms are the most dangerous and almost unpredictable.
Tuberous sclerosis affects the mental development of children. Often children are diagnosed with autism. This disease is constantly progressing and after the removal of infantile spasms in the child, there may be a need for treatment of respiratory and cardiac failure or renal bleeding.
On the body, the child can also develop papillomas, fibromas and pigment spots that are treated with deep dermabrasion.
Apathy, irritability and fatigue may be symptoms of tuberculous meningitis caused by mycobacteria.
Against the background of the progression of osteochondrosis, symptoms of lumboschialgia such as pain in the back or buttocks are possible. What other signs of this disease can be read here.
In adults
Tuberous sclerosis in adults is more common than medically diagnosed. The prevalence of this disease, regardless of age, occurs in this ratio: 1 person by about 40 thousand.
However, with extensive signs and typical symptomatology, which is not a nosological form, the patient can be examined and treated by physicians of various specializations.
Signs of the disease
All symptoms of tuberous sclerosis can be divided into two groups: external and internal. There are such basic external signs of manifestation of tuberous sclerosis:
- Appearance of depigmentation sites on the skin in the form of a spot localized more often on the trunk or buttocks. Spots appear immediately from the birth of a child and with age their number progressively increases. They differ in their size, shape and location.
- Pigmentation, manifested by spots of coffee tint.
- Local white strands of hair on the head and single depigmented areas of hair on eyelashes and eyebrows.
- Angiofibromas or rashes on the face that appear on cheeks, chin and nose in the form of tubercles of red-pink color with a smooth surface. Such symptoms are manifested primarily after 4 years from the birth of the child.
- Shagreen spots or hardened, rough areas of skin that appear on the sacrum or loin with a brownish tinge.
- During the adolescent period, circumglobular fibroma develops. It is a nodule of reddish color near the nail roller.
- Fibrous neoplasm, which appears already in the first year of life. It is characterized by a dermal seal with a rough surface, which is mainly localized on the forehead.
On the photo of angiofibroma in tuberous sclerosis:
Internal symptoms include such signs:
- Vision. The progression of the disease, expressed in the organs of vision, is manifested in the development of tumoral formations - a harmath, - affecting the optic nerve and retina. Such neoplasms are characterized by an oval, knobby form of orange-pink color. Appear on the surface of the retina of the eyeball. Tumor nodules can be grouped and be noticeable. Such formations lead to impaired vision.
- Brain. With such a lesion, an abnormal white matter, subepidelmal nodes and cortical tuberomes are formed. They can be of different sizes and eventually grouped into one formation. When the brain is damaged, the patient has convulsions, and mental retardation is observed.
- Cardiovascular system. On the surface of the ventricles rhabdomyomas are formed. An inherently intramural arrangement, which implies the spread of the tumor in the region of the heart wall.
- Gastrointestinal tract. On the mucous surface, beginning from the oral cavity and up to the intestine, there are garmatomes, fibromatous and papillomatous formations. Deteriorated tooth enamel.
- Respiratory system. Cystic tumors form in the lungs, which lead to pulmonary insufficiency.
The main types of diagnosis
An accurate diagnosis can be made if you undergo a series of diagnostic tests. The very first - this is an examination with the attending physician, who will subsequently appoint a comprehensive examination.
We investigate shagreen plaques in which the amount of collagen beams increases.
Differential examination is assigned upon detection:
- Skin Diseases Adenona sebaceum
- Shagreen plaque
- Hypopigmented spots.
For ultrasound examination, ultrasound is prescribed. Newborn babies, who have signs of tuberous sclerosis, are prescribed ultrasound of the kidneys and cardiogram of the heart.
An ophthalmologist examines the eyeball to detect nodular formations on the retina.
For the study of the brain, an MRT is prescribed. Tomography of the brain allows detecting benign and malignant formations in the central nervous system.
The MRI procedure helps to detect symptoms of tuberous sclerosis at the earliest stages of its development, which promotes effective treatment at an early age.
An electroencephalogram is also used to study the brain, which shows areas of epileptic activity.
Treatment of tuberous sclerosis
Complete cure is not possible. Therefore, the goal of treatment is to provide a full life to the patient .
There are two main methods for treating tuberous sclerosis of the brain:
- Medicated
- Surgical
In most cases complex treatment is used. Thanks to drug therapy, it is possible to prevent epileptic seizures, corticosteroids are prescribed for this. A number of drugs( clonazepam and nitrazepam) are also prescribed, which control the processes occurring in the central nervous system.
The surgical method is used to remove intracranial tumors that can rapidly grow and cause an increase in intracranial pressure. A neurosurgeon during an operation excises a tumor within a healthy area.
Preventive measures use a stereotaxic technique.
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Prognosis and life expectancy
Life expectancy depends on the progression of the disease. With proper treatment and timely prevention, patients live more than 25 years of .Thanks to scientific progress, the methods of treatment of tuberous sclerosis are being improved.
Although this disease does not cure completely, however many live with it for a decade.
Summarizing the above, one can come to the conclusion that tuberous sclerosis can be identified at early stages of development and it lends itself to modern treatment. You can recognize the disease by obvious skin pigmentation spots.
To determine an accurate diagnosis, always consult a medical professional. Proper adherence to recommendations will prolong the life of you or your child.