Tuberous sclerosis

Tuberous sclerosis is a hereditary disease, the causes of which are changes in 16 and 9 chromosomes of a person. Symptoms of the disease appear already in the first year of life of the newborn. The disease is characterized by lesions of the skin, eyes, neurological changes, abnormalities of internal organs. A rash of a reddish hue in the shape of a "butterfly" and a depigmentation spots appear up to 1 cm in diameter around the nose. Tuberous
Sclerosis causes the onset of fibrous plaques on the forehead and smooth waxy
Outgrowths. Appear also shagreen spots - seals on the skin with a rough
Surface.

At the bottom of the eyeball, a tumor forms, which, as it grows, changes the color of the iris of the eye. Tuberous sclerosis in children manifests itself in the form of seizures almost immediately after birth. Seizures are poorly docked and very strong. Gradually develops mental retardation, down to idiocy. Patients do not go for contact, are prone to autism. Tuberous sclerosis causes the appearance of tumors and polyps in the intestines, kidneys, heart and other internal organs. "Cellular" lungs are formed. If suspected of this disease, nuclear resonance and computed tomography of the brain is performed. Examinations of the eyeball are carried out with the help of ophthalmography.

A variety of clinical manifestations of the disease are the result of a lesion of connective and fibrous tissue in the internal organs.
Studies show that the composition of tumors includes excessive
Number of cells of several or one types. The tubercles may affect the gyrus
Brain, basal nucleus, brain stem and cerebellum. Depending on the
Localization, tumors cause occlusive hydrocephalus. Over time, tubercles can be calcified or grow into a malignant giant cell
Astrocytoma. In rare cases, glioblastoma develops.

To date, recovery from the disease is impossible, so only symptomatic treatment is prescribed . Tuberous sclerosis is diagnosed in one newborn per 100,000. Cramps stop corticosteroids,
Patients are prescribed nitrazepam and clonazepam. With targeted treatment
The development of mental retardation can be a little
To suspend. Tuberous sclerosis is treated with a ketogenic diet with
Low in carbohydrates and proteins and with increased fat. This gives
Possibility to reduce the frequency of seizures, and in combination with acetazoplamide to reduce
Them to a minimum. In the case of hydrocephalus, shunting is performed. For the correction of skin integuments, laser argon correction of the skin of patients retaining the intellect is performed, with which the skin growths bring aesthetic inconveniences. With lung damage, progesterone is prescribed, the heart is treated with therapeutic agents. If there are kidney bleedings that threaten life, urgent nephrectomy is performed, large renal cysts are punctured.

The problems associated with physical disabilities and mental retardation must be corrected in the centers for the support of the disabled with the help of clinical psychologists. An important point is psychological help
Parents of a sick child. Efforts of physicians, psychologists and parents should be
Aimed at learning to eat independently, training skills
Neatness and maintenance of the child themselves in the toilet. Tuberous sclerosis has
Unfavorable forecasts for life. Most often the disease ends
Lethal outcome. Life expectancy with this diagnosis is about 5 years.