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Tuberous sclerosis


Tuberous sclerosis (Xing; Ep_ola, a disease of Brunevil) is described in 1880. The essence of a disease is that in crinkles of a cerebral cortex tumors and the centers of a sclerosis are formed. The same hillocks and the centers of a sclerosis arise in heart and kidneys, and also in mesh covers of eyes, intestines, a thyroid gland and bones.

Reasons of the Tuberous sclerosis:

This hereditary disease which is transmitted on dominant type however in 75% natural mutation at quite healthy parents of the sick child takes place.

Symptoms of the Tuberous sclerosis:

The classical triad of symptoms is characteristic:
• delay of intellectual development;
• convulsive attacks;
• specific rash on face skin in the form of small erythematic spots — angiofibromas.
However, in addition, a significant amount of other symptoms takes place:
- the depigmented spots on skin of extremities and the trunks well visible in ultra-violet light (can appear on the first year of life), and also shagreen spots;
- spots on a mesh cover of eyes — retinal факоматоз (are especially well noticeable when they are calcific);
- damage of heart in the form of a rhabdomyoma, the KG which are well defined on the Echo:
- damage of kidneys — angiomyolipomas, characteristic hemorrhages in the form of retroperitoneal, intrarenal bleedings and a hamaturia.
Angiofibromas on a face, retinal факоматоз, shagreen spots, damages of kidneys in the form of angiomyolipomas are considered as the most typical. Existence at the same time of convulsive attacks - myoclonic, tonic or atonic - does the diagnosis very probable. The genealogical anamnesis - existence of a tuberous sclerosis at persons of the first line of relationship is of great importance for the diagnosis. The research verifying the diagnosis can be considered identification at a computer tomography of the typical calcinated hillocks, and also demyelination KT-signs.

Кожная сыпь при туберозном склерозе

Skin rash at a tuberous sclerosis

Краниограмма черепа при туберозном склерозе

Kraniogramma of a skull at a tuberous sclerosis

Treatment of the Tuberous sclerosis:

Perhaps only a symptomatic treatment, first of all antikonvulsant. Treatment from a disease is impossible. Patients live up to advanced age if behind them the corresponding leaving is carried out.

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