Etiology of the disease and signs of Stegge Weber syndrome

1 Pathogenesis of

disease Until now, it has not been possible to find out the etiology of the disease. Presumably, there is a defect in the mesoderm, characterized by an abnormal origin of the cerebral vascular system, that is, it concerns an innate type of dysplasia. Clear evidence of the hereditary component is not yet, however, there is an uneven dominant transmission. The lesion can be diagnosed in both men and women. According to the statistics, the lesion is diagnosed at the age of 10-20 years, which proves an increased incidence of the disease among children and young people.

Sturge-Weber Syndrome is presented as a sporadic disease with family single cases. In another way the disease is called encephalofacial angiomatosis. As the main manifestation of the disease is the congenital nevus of vessels on the front surface. Nevuses are predominantly one-sided, but two-sided appearance is possible. They occupy the upper half of the face on the frontal region to the site of the upper jaw. Primarily innervation of the ternary nerve is limited.

An important feature of capillary angiodysplasia is the potential association with vascular anomalies inside the eye and skull. In 50% of cases, the development of glaucoma is diagnosed, the localization of which falls on the ipsilateral eye. Perhaps both the appearance of congenital glaucoma, and its development only to 2 years. It is important to note that leptomeningeal angiomatosis is predominantly ipsilateral in relation to the facial nevus. Intracranial angiomatosis has a length that correlates with the size of the spots on the face.

The affected hemisphere gradually becomes atrophic, in particular, calcification of the subcortical plate can develop. The clinical picture of the disease mainly consists in the appearance of seizures of epilepsy( observed in 70-90% of cases), hemiparesis, mental retardation and hemianopsia, as well as violations of the sensitivity level to the hemitis. The pharmacoresistant course of epileptic seizures requires total or partial hemisferectomy.

2 Signs and course of the disease

Sturge-Weber syndrome is a violation of embryonic mesodermal and ectodermic development during the 6-9 weeks of pregnancy, that is, appears in the first or second month of bearing a child. Angioma is formed due to the remains of the plexus of the vessels remaining in the portion of the head of the nerve tube. Some medical experts are of the opinion that the disease appears as a result of a genetic mutation in the 4q chromosome. In rare cases, Sturge-Weber's syndrome is possible due to trisomy of the 10 chromosomes. In addition, this disease can be associated with another phakomatosis - the syndrome of Klippel-Trenone-Weber. In rare cases, you can inherit this form of the disease. There is a predominance of sporadic gene mutation in a separate group of brain cells, vessels and skin.

3 Forms of pathology

To date, there are three forms of Strouge-Weber syndrome:

1. Facial and soft-walled angioma - the development of glaucoma is possible.
2. Only facial angioma without affecting the central nervous system - glaucoma may develop.
3. Only mild colonic angioma - mainly there is no development of glaucoma.

It should be noted that glaucoma in Strouge-Weber syndrome can develop at any age.

The lesion is directed to the eyeball, it has a unilaterality in relation to the location of the porthole spots on the skin of the face, and can also act as a cause of damage to the optic nerve, rapidly diminishing vision, the bouffalm. This condition, in turn, leads to degenerative changes in the retinal epithelium, cystic degeneration, retinal detachment and loss of vision. It is because of these reasons that the patient must undergo a follow-up examination with an ophthalmologist and, if necessary, an ophthalmic surgeon.