Sturge – Weber syndrome is a hereditary disease belonging to the group of alternating syndromes. It combines damage to the cranial nerves on the part 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 core 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 lesion.
Weber's Syndrome: Symptoms
Weber’s syndrome is a disease in which angiomas appear on the affected areas of the skin, and angiomas of the vessels of the eye and conjunctiva are also observed; possible development of cataracts, glaucoma, as well as retinal detachment.
Multiple angiomas form on the pia mater, which also extend to the skin of the face and adjacent tissues, characteristic neurological symptoms appear. Most often, the disease affects the region of the upper jaw and the optic trigeminal nerve. Damage to the soft membrane of the brain can be either only on one side, or affect both.
The affected area of the face is covered with specific spots of red color, while, in addition to the nervous system, the disease can affect the internal organs.
Weber's syndrome is characterized by the following manifestations:
- MRI or CT images show the manifestations of leptomeningeal angioma.
- Convulsive reactions.
- Delay in mental development (idiocy, oligophrenia).
- Increased intraocular pressure.
- Vision deficiency.
- Hemiparesis
- Hematrophy.
- Angiomas (the skin is covered with red vascular spots).
Varieties of Weber's Syndrome
There are several main varieties. The above described disease is described - Weber syndrome. The photo shows what 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 - the development of hemangioma of the eye without the attachment of early glaucoma with manifestations of angioma on the skin and in the eye area.
- Knud — Rrubbe syndrome is 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 increase.
Weber's Syndrome: Causes
The reason for the onset 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.
A fetus can develop a disease if it has negative effects on it during pregnancy. These include:
- Smoking during pregnancy, especially in the early stages.
- Alcohol consumption.
- Drug use.
- Intoxication of a pregnant woman of various etiologies.
- Uncontrolled use of medications.
- Sexual infections acquired during pregnancy.
- Intrauterine infections.
- Impaired metabolism in the expectant mother (hypothyroidism).
Often, only heredity affects the development of the disease. Weber's syndrome cannot be infected in everyday life.
Diagnosis of the 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.
To clarify the diagnosis, an X-ray examination is necessary. In the images obtained, calcification of the cerebral cortex can be noted. Computed tomography provides an even more complete picture of the affected areas. The images taken with MRI can reveal thinning of the cerebral cortex, degeneration and atrophy of the white matter. Hardware diagnosis is also needed to exclude other, no less dangerous, diseases: brain tumors, abscesses of soft tissues of the brain, cysts.
An enormous role in making the correct diagnosis is played by electroencephalography, since it makes it possible to determine the activity of bioelectric pulses in the brain in order to diagnose epilepsy in time. Most people with Weber's syndrome have epileptic seizures. Measurements of eye pressure, sharpness of vision, ophthalmoscopy, and AV scans are also carried out for the purpose of ophthalmological treatment.
Weber syndrome treatment
Weber’s syndrome currently has no effective treatment, and the therapy is aimed at stopping the symptoms and improving the quality of human life. The patient is prescribed anticonvulsant therapy using various drugs:
- Depakin.
- "Carbamazepine".
- Keppra.
- Topiramat.
- Finlepsin.
Quite often, the patient does not respond to the treatment of epileptic seizures, then the use of several drugs may be prescribed by the attending physician. If enhanced therapy does not help, then, according to the testimony of the neurosurgeon, surgical treatment can be prescribed.
Elevated eye pressure (glaucoma) is treated with special 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 undergoes trabeculectomy or trabeculotomy.
Consequences and Complications
Weber's syndrome is a rather dangerous disease. If conservative or surgical treatment is not successful and the patient's condition has not improved, a rather poor prognosis is given. Uncontrolled epileptic syndrome can lead to dementia, oligophrenia, loss of vision, and the risk of stroke increases.
Disease Prevention
Despite the fact that the disease is hereditary, preventive measures taken by a pregnant woman will significantly reduce the risk of developing the disease. Such events include:
- Refusal of bad habits (especially during pregnancy).
- Maintaining a healthy and healthy lifestyle. Frequent walks in the fresh air, healthy sleep.
- Proper fractional nutrition. An increase in the diet of foods high in fiber. Do not eat convenience foods and fried foods.
- Timely registration during pregnancy and visiting a doctor at the appointed time.
- The use of drugs is only for the direct prescription of a doctor.
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 lives for the better. It is also important not to let the disease drift and not to take medicine without a doctor’s prescription.