Sturge–Weber syndrome is a hereditary disease belonging to the group of alternating syndromes. It combines damage to the cranial nerves on the side of the focus and a disorder of sensory and motor functions on the opposite side. Weber's syndrome is a neurological syndrome in which the root or nucleus of the oculomotor nerve is damaged. Characteristic manifestations of the disease are reflected on the face, on the side of the focus there is ptosis, mydriasis, strabismus, contralateral central hemiplegia, paralysis of the muscles of the face and tongue.
Weber Syndrome: signs
Weber's syndrome is a disease in which angiomas appear on the affected areas of the skin, angiomas of the vessels of the eye, conjunctiva are also observed; possible development of cataracts, glaucoma, and retinal detachment.
Multiple angiomas form on the pia mater, which also spread to the skin of the face and adjacent tissues, and characteristic neurological symptoms appear. Most often, the disease affects the region of the upper jaw andophthalmic trigeminal nerve. Damage to the soft shell of the brain can be either only on one side, 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 internal organs.
Weber syndrome is characterized by the following manifestations:
- MRI or CT images show manifestations of leptomeningeal angioma.
- Convulsive reactions.
- Mental retardation (idiocy, mental retardation).
- Increased intraocular pressure.
- Vision deficit.
- Hemiparesis.
- Hemiatrophy.
- Angiomas (the skin is covered with red vascular spots).
Varieties of Weber's Syndrome
There are several main varieties. The described disease is shown above - Weber's syndrome. The photo shows what a person suffering from this pathology looks like. The disease is subdivided into:
- Schirmer-syndrome - the development of early glaucoma with manifestations of skin and ocular angioma.
- Milles-syndrome - the development of 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 - a manifestation of encephalotrigeminal angioma.
- Weber-Dumitri-syndrome - a manifestation of epilepsy, seizures, developmental delay, hemihypertrophy.
- Jahnke-syndrome - angiomas of the skin, areas of the brain.
- Loford syndrome - angiomas of the eyeball without its enlargement.
SyndromeWeber: Reasons
The reason for the appearance of the disease is that during the development of the fetus, two germ layers are damaged: the ectoderm and mesoderm. The development of this disease in children is extremely episodic. The disease is transmitted mainly by dominant alleles, but there is also recessive inheritance.
The disease can develop in the fetus if during pregnancy it was negatively affected. These include:
- Smoking during pregnancy, especially in early pregnancy.
- Drinking alcohol.
- Drug use.
- Intoxication of a pregnant woman of various etiologies.
- Uncontrolled drug use.
- Sexual infections acquired during pregnancy.
- Intrauterine infections.
- Metabolism disorder in expectant mother (hypothyroidism).
Often, only heredity affects the development of the disease. Weber syndrome cannot be contracted in ordinary life.
Diagnosis of disease
The disease is diagnosed by characteristic manifestations. 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's syndrome, diagnosis and treatment are carried out by several doctors: an ophthalmologist, a neurologist, an epileptologist, a dermatologist.
X-ray examination is necessary to clarify the diagnosis. On theThe resulting images can be seen calcification of the cerebral cortex. Computed tomography gives an even more complete picture of the affected areas. MRI scans can show thinning of the cerebral cortex, degeneration, and atrophy of the white matter. Hardware diagnostics is also necessary to exclude other, no less dangerous, diseases: brain tumors, abscesses of the soft tissues of the brain, cysts.
Electroencephalography plays a huge role in making a correct diagnosis, 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 syndrome have epileptic seizures. They also measure eye pressure, visual acuity, ophthalmoscopy, AV scanning - for the appointment of ophthalmic treatment.
Treatment of Weber's syndrome
Weber's syndrome currently has no effective treatment, and ongoing therapy is aimed at relieving symptoms and improving the quality of life of a person. The patient is prescribed anticonvulsant therapy using various drugs:
- "Depakin".
- "Carbamazepine".
- "Keppra".
- "Topiramate".
- "Finlepsin".
Quite often the patient does not respond to the treatment of epileptic seizures, then the attending physician may prescribe the use of several drugs. If enhanced therapy does not help, thenneurosurgical indications, surgical treatment may be prescribed.
Increased eye pressure (glaucoma) is treated with special drops that reduce the secretion of eye fluid. These drugs include "Timolol", "Alfagan", "Azopt", "Dorzolamide". However, this conservative therapy can be extremely ineffective, and then the only option is surgical treatment: the patient undergoes a trabeculectomy or trabeculotomy.
Consequences and complications
Weber's Syndrome is a rather dangerous disease. If the ongoing conservative or surgical treatment has not yielded results and the patient's condition has not improved, a rather unfavorable prognosis is given. Uncontrolled epileptic syndrome can lead to dementia, mental retardation, loss of vision, and an increased risk of stroke.
Prevention of disease development
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:
- Kicking bad habits (especially during pregnancy).
- Keeping a proper and he althy lifestyle. Frequent walks in the fresh air, he althy sleep.
- Proper fractional nutrition. Increase in the diet of foods high in fiber. Do not eat processed foods and fried foods.
- Timely registration during pregnancy and visits to the doctor at the appointed time.
- Direct drug use onlydoctor's prescription.
Weber's syndrome is a rare and dangerous disease that 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 medicines without a doctor's prescription.
