Serious disease that occurs sporadically, is encephalotrigeminal angiomatosis.
It is also known as Sturge-Weber Syndrome.
Multiple angiomas of the facial and cerebral skin appear.
Usually their localization is the maxillary and ocular branches of the trigeminal nerve. In this case, the soft dura of the disease can be affected with one or two sides.
This disease refers to phakomatous ailments, i.e.hereditary problems, which are characterized by disorders of the nervous system and internal organs, as well as changes in the skin( most often there are spots).
This combination of manifestations is due to the fact that during pregnancy 2 germ layers are damaged simultaneously:
- of the ectoderm.
It is from these in the future that the skin, nervous system, blood vessels and internal organs of the baby develop. The following diseases are referred to the group of phakomatoses:
- tuberous sclerosis of Burneville;
- Weber Syndrome;
- Louis-Bar syndrome;
- is also the neurofibromatosis of Recklinghuisen.
Variants of the disease
In modern medical practice, there are 3 forms of the Sturge-Weber syndrome.
All of them are distinguished by a combination of symptoms:
- Only angiomas on the face. Either a combination of these vascular tumors on the face skin with glaucoma.
- Only brain angioma of the brain.
- Combination of angiomas of the brain and facial skin. In this case, the appearance of glaucoma.
Clinical picture of the disease
Classically, the Sturge-Weber-Crabbe syndrome manifests itself as the main symptoms:
- convulsive seizures;
- vascular spots on the face, which are called angiomas;
- increased intraocular pressure or glaucoma.
Both men and women suffer equally from illness. One of the 50,000 people on earth is affected by this disease.
Of the possible symptoms, doctors usually distinguish the following options:
- Bordeaux, a bright spot on the face of .Most often the picture is the following - it covers only one side, while it seizes the forehead and nose area and is limited to the upper lip. It is this part that is innervated by 1 and 2 branches of the trigeminal nerve. A reddish spot is sometimes present on both sides of the face. In this case, it often appears at the birth of a child, and may appear with time.
- Seizure attacks , which manifest as involuntary movements in the upper and lower limbs. They arise from the opposite side of the stain on the face. Their appearance is due to the fact that the cortex is affected by angioma. In patients, convulsive seizures result in the spread of involuntary movements to the entire body, deep fainting, and uncontrolled urination. Such seizures begin to occur already in the first year of a person's life.
- Weakness in the muscles of the ( usually limbs) from the opposite side of the body from a burgundy patch.
- Reduced vision .Often, with the aggravation of the disease, there may be a complete loss.
- Reducing the sensitivity of in the half of the body that is located opposite the burgundy patch on the face.
- If angiomas are concentrated in the region of the occipital lobes of the brain, the is likely to completely lose some fields of view of the .
- Intellectual disorders of are observed. I - absent-mindedness, memory loss and mental retardation( inconsistency with his age).
- Headache .
- Violations from the emotional development of the child : tearfulness, constant irritability and even aggression.
The first and early symptoms are seizures, and the appearance of a brown patch on the skin of the face.
The first symptoms of Stirge-Weber syndrome should be referred to a doctor.
It is the specialist who will prescribe the correct diagnostic tests and deliver the most accurate diagnosis, and then appoint an effective treatment.
The diagnostic complex for encephalotrigeminal angiomatosis consists of several stages and procedures:
- First, analyzes the history and complaints of .It is important to know from what age the symptomatology appeared( seizures, weakness, headache, etc.).It is necessary to clarify whether this ailment was someone else from family members.
- A neurological examination of the patient is required. In this case, the skin sensitivity and muscular strength of all limbs of the body are carefully evaluated.
- I have to go to an appointment with the ophthalmologist .Only he will measure the intraocular pressure, examine the eyes, and examine their internal structure. This is necessary for the detection of angiomas, which can appear on the shell of the eye. And if the optic nerve is edema, then the doctor will be able to find out the presence of an increase in intracranial pressure.
- Often, the treating doctor directs the patient to consult a medical geneticist .
- Computer tomography and MRI will help to see all changes in the brain( those areas where the cortex is thinner, where there are tumors, angiomas).
- Electroencephalography is a technique that allows you to evaluate electrical conductivity and brain activity at different sites. Depending on the disease, this parameter can vary. Especially if there is an epileptic focus( it is the main cause of convulsive seizures).
Spinal cord is the most severe complication of neurosyphilis. What happens if you do not start timely treatment of the disease.
Therapy of the disease
The treatment of Stiurge Weber's syndrome is symptomatic only.
This means that is the main goal of therapy - to relieve the patient of those manifestations of that worsen the standard of living of a person.
The doctor prescribes:
- medications that help eliminate convulsive symptoms;
- in the presence of psycho-emotional disorders prescribed psychotropic drugs;
- if intraocular pressure is increased, you will have to take medications that will reduce it.
If angiomas that are in the cranial cavity, threaten life, seriously affect the change in the functioning of the body, the doctor decides to remove them.
This is a surgical procedure. And if the burgundy stain on the skin of the face greatly interferes with the patient's life, it can be "disguised" with the help of cosmetic surgery. In this case, tattooing of the affected area of the face with a body paint is performed.
Syndrome If no action is taken regarding the treatment of the disease, then there is a chance of complications:
- vision loss;
- problems of cerebral circulation;
- a pronounced defect on the face that interferes with comfortable social adaptation in society, and also reduces self-esteem;
- is a neurological defect, right up to the distortion of mental development.
Unfortunately, preventive measures that could prevent the development of Weber's disease are absent. After all, doctors still can not find out the exact causes of the onset of the disease.
Therefore, the most important thing is to start struggling with this problem.