Sturge – Weber syndrome - hereditarydisease belonging to the group of alternating syndromes. It combines the defeat of the cranial nerves from the source and the disorder of the sensory and motor functions on the opposite side. Weber syndrome is called neurological syndrome, in which the root or the nucleus of the oculomotor nerve is damaged. The characteristic manifestations of the disease are reflected on the face, ptosis, mydriasis, strabismus, contralateral central hemiplegia, paralysis of the muscles of the face and tongue occur on the side of the focus.
Weber syndrome: signs
Weber syndrome is a disease withwhich appear on the affected areas of the skin of the angioma, angiomas of the eye vessels and conjunctiva are also observed; may develop cataracts, glaucoma, and retinal detachment.
The pia mater is formedmultiple angiomas, which also extend to the skin of the face and surrounding tissues, exhibit characteristic neurological symptoms. Most often, the disease affects the region of the upper jaw and the ocular trigeminal nerve. Damage to the pia mater can be either on one side only, or affect both.
The affected area of the face is covered with specific red spots, while in addition to the nervous system, the disease can also affect the internal organs.
Weber syndrome is characterized by the following manifestations:
- The MRI or CT images show manifestations of leptomeningeal angioma.
- Convulsive reactions.
- Delayed mental development (idiocy, mental retardation).
- Increased intraocular pressure.
- Lack of vision.
- Hemiparesis.
- Hemiatrophy.
- Angiomas (the skin is covered with red vascular spots).
Varieties of Weber Syndrome
There are several main varieties. Above is shown the described disease - Weber syndrome. The photo shows how a person suffering from this pathology looks like. The disease is divided into:
- Schirmer syndrome - the development of early glaucoma with manifestations of cutaneous and ocular angiomas.
- Milles-syndrome - development of the hemangioma of the eye without the addition of early glaucoma with manifestations of angioma on the skin and in the eye area.
- Knud — Rrubbe syndrome is a manifestation of encephalotrigemal angioma.
- Weber — Dumitri syndrome — a manifestation of epilepsy, convulsions, developmental delay, hemihypertrophy.
- Jahnke syndrome - angiomas of the skin, areas of the brain.
- Loford syndrome - eyeball angiomas without increasing it.
Weber syndrome: causes
The cause of the disease is thatduring fetal development, two germ layers are damaged: the ectoderm and mesoderm. The development of this disease in children is extremely episodic. The disease is transmitted mainly through the dominant alleles, but sometimes recessive inheritance.
The disease can develop in the fetus if during pregnancy it was adversely affected. These include:
- Smoking during pregnancy, especially in the early stages.
- Alcohol consumption.
- Drug use.
- Intoxication of pregnant women of various etiologies.
- Uncontrolled use of drugs.
- Genital infections acquired during pregnancy.
- Intrauterine infections.
- Disturbance of metabolism in the expectant mother (hypothyroidism).
Often only heredity affects the development of the disease. Weber syndrome can not be infected in everyday life.
Diagnosis of the disease
The disease is diagnosed by characteristicmanifestations. Part of the patient's face is subject to angiomatous changes, increased eye pressure with a possible increase in the eyeball, there are epileptic seizures. If there is a suspicion of Weber syndrome, diagnosis and treatment are carried out by several doctors: an ophthalmologist, a neurologist, an epileptologist, a dermatologist.
To clarify the diagnosis is necessaryx-ray examination. The obtained images can be seen calcification of the cerebral cortex. Computed tomography gives an even more complete picture of the affected areas. MRI scans can reveal thinning of the cerebral cortex, degeneration and atrophy of the white matter. Hardware diagnostics is also needed to exclude other equally dangerous diseases: brain tumors, abscesses of the soft tissues of the brain, cysts.
Огромную роль для постановки правильного диагноза Electroencephalography is playing, as it makes it possible to determine the activity of bioelectric impulses in the brain in order to diagnose epilepsy in time. Most people with Weber's syndrome have epileptic seizures. Also, measurement of eye pressure, sharpness of view, ophthalmoscopy, AV-scan - for the appointment of ophthalmic treatment.
Weber syndrome treatment
Синдром Вебера в настоящее время эффективного He has no treatment, and the therapy is aimed at alleviating the symptoms and improving the quality of human life. The patient is prescribed anticonvulsant therapy using various drugs:
- "Depakine".
- "Carbamazepine".
- "Keppra".
- Topiramate.
- "Finlepsin".
Quite often, the patient does not respond to treatment.epileptic seizures, then the use of several drugs can be prescribed by the attending physician. If reinforced therapy does not help, then according to the testimony of a neurosurgeon, surgical treatment may be prescribed.
Increased eye pressure (glaucoma) is treatedspecial drops that reduce the secretion of eye fluid. Such drugs include "Timolol", "Alfagan", "Azopt", "Dorzolamide". However, this conservative therapy can be extremely ineffective, and then the only option is surgical treatment: the patient is undergoing trabeculectomy or trabeculotomy.
Consequences and complications
Weber syndrome is a fairly dangerous disease.If the conducted conservative or surgical treatment did not produce results and the patient's condition did not improve, a rather unfavorable prognosis is given. Uncontrolled epileptic syndrome can lead to dementia, mental retardation, loss of vision, increased risk of stroke.
Prevention of the development of the disease
Despite the fact that the disease is hereditary, preventive measures taken by a pregnant woman will significantly reduce the risk of developing the disease. These activities include:
- Rejection of bad habits (especially during pregnancy).
- Maintain a proper and healthy lifestyle. Frequent walks in the fresh air, healthy sleep.
- Proper fractional nutrition. An increase in the diet of high fiber foods. Do not eat semi-finished and fried.
- Timely registration with pregnancy and visiting a doctor at the appointed time.
- The use of drugs only by direct doctor's prescription.
Weber syndrome is a rare and dangerous disease.which directly affects the quality of human life. Trust in doctors, timely diagnosis and the passage of prescribed treatment can change life for the better. It is also important not to let the disease take its course and not to use drugs without a prescription.
