Cerebral venous malformations. Arteriovenous malformation of cerebral vessels. Reasons for the formation of pathology.

09.06.2019

Venous malformation (VM) is the abnormal development and pathological expansion of superficial or deep veins. Venous malformation is the most common vascular malformation. This is a congenital pathology, although clinically it can manifest itself in early adolescence or even in mature age. CM manifests itself in any part of the body, including skin, muscles, bones and internal organs.

The vein of Galen is located beneath the cerebral hemispheres and drains the anterior and central regions of the brain into the correct sinuses. Deformities occur when the moisture of Galen is not supported within the head by surrounding tissues and does not have a normal fibrous wall. Thus, the moisture of Galen appears freely floating in the fluids of the brain spaces. If the pressure increases within Galen, its shape changes from a cylinder to a sphere. Such changes are accompanied by abnormal blood circulation in the fetus.

In extreme cases, there may be heart failure or cerebral edema. Mixed malformation is a phrase used to include any of several ambiguous malformations. Often these malformations are mixtures of arteriovenous malformations with telangiectasis.

Venous malformations vary in size and location. They can be superficial or deep, isolated or affect several body parts or organs. Their color depends on the depth and volume of the affected vessels. The closer the affected vessels are to the surface of the skin, the richer the color. From dark blue or burgundy red to bluish (photo 1).

Features of the disease in children

The evidence for a genetic cause is strong in the case of cavernous hemangiomas and telangiectasia. The case is significantly weaker for cerebral arteriovenous malformation. In each of these cases, the condition is passed on as an autosomal dominant trait. Chromosomes, which are present in the nucleus of human cells, carry genetic information for each person. Cells human body usually have 46 chromosomes. Chromosomes are further divided into many groups, which are numbered. The numbered bands identify the location of the thousands of genes present on each chromosome.

Photo 1. A 12-year-old boy with an extensive venous malformation of the back.

Because of this, some CMs are confused with hemangiomas. With a deep, isolated location of the defect, the skin may not change at all. Venous malformations are usually soft to the touch and easily compress when pressed, changing color.

As a rule, venous malformations increase with age in proportion to the child's height. However, factors such as injury, surgery, infections, contraceptive medications, or hormonal changes problems associated with puberty, pregnancy or menopause can lead to rapid, explosive growth.

Genetic diseases are determined by the combination of genes for a particular trait that are found on chromosomes received from the father and mother. Dominant genetic disorders occur when only one copy of the abnormal gene is needed to cause the disease. The abnormal gene may be inherited from either parent or may be the result of a new mutation in the affected person. The risk of passing the abnormal gene from the affected parent to the offspring is 50% for each pregnancy, regardless of the sex of the resulting child.

Diagnostics

The diagnosis of venous malformation, like all other vascular anomalies, is made on the basis of a carefully collected history, physical examination and instrumental research methods: ultrasound, CT, MRI and angiography. If the gastrointestinal tract is affected, endoscopic diagnosis is used.

Complications

Swelling and pain in the affected area;
Varicose veins;
Bleeding and bleeding disorders;
The formation of thrombosis and thrombophlebitis.

Treatment

Long-term or constant wearing of compression stockings
Sclerotherapy
Surgical removal
Laser therapy
Drug treatment

Diseases associated with venous malformation

Blue rubber bubble nevus syndrome / Bean syndrome

Blue rubber nevus syndrome, or Bean syndrome, is a rare multifocal venous malformation that manifests as multiple blue or black papules on the skin, scalp, and internal organs, most often in the gastrointestinal tract (photo 2-3).

Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If a person receives one normal gene and one gene for the disease, the person will be a carrier of the disease but will usually not show symptoms. The risk for two carrier parents to both pass the defective gene and for each of them to pass the defective gene is 25%. The risk of having a child who is a carrier, such as the parents, is 50% with each pregnancy.

How do symptoms occur?

The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for men and women. All people carry several abnormal genes. Parents who are closely related have a higher chance than unrelated parents of both having the same abnormal gene, increasing the risk of having children with a recessive genetic disorder.

Photo 2-3. A 2-year-old girl with nevus syndrome of the blue rubber bladder type.

The disease is very severe and is often associated with serious and potentially fatal bleeding and anemia. Treatment consists of a combination of medical, surgical and endoscopic methods.

Maffucci syndrome

Maffucci syndrome is a rare, genetic and extremely serious illness, which combines a combination of venous malformation and enchondromatosis. The disease leads to significant deformation of the limbs, especially in the arms and legs, shortening and fractures. Vascular malformations with this defect appear on the skin or subcutaneous fat, but can occur in internal organs and mucous membranes. Also with this defect, the appearance of lymphatic malformations (lymphangiomas) is possible.

X-linked recessive genetic disorders are conditions caused by an abnormal gene on the X chromosome. Women have two X chromosomes, but one of the X chromosomes is turned off, and all genes on that chromosome are inactivated. Women who have the disease gene present on one of their X chromosomes are carriers of the disorder. Female carriers usually do not show symptoms of the disorder because it is usually the X chromosome with the abnormal gene that is turned off. A man has one X chromosome, and if he inherits an X chromosome that contains a disease gene, he develops the disease.

Glomusovenous malformation

Glomus venous malformation is an inherited, multifocal venous malformation that is characterized by the presence of glomus cells in the walls of abnormal vessels. The disease manifests itself in the form of many small spots and papules on the skin. The color of the rash varies from pink to bluish-purple. Most often, the disease manifests itself on the extremities, but variants of manifestation on the mucous membrane of the oral cavity, eyelids and muscles are possible.

Men with X-linked disorders pass the gene for the disease to all of their daughters, who will be carriers. Female carriers of an X-linked disorder have a 25% chance with each pregnancy of having a carrier daughter like them, a 25% chance of having a carrier daughter, a 25% chance of having a son affected by the disease, and a 25% chance of having an unaffected one. son. X-linked dominant disorders are also caused by an abnormal gene on the X chromosome, but in these rare conditions, women with the abnormal gene suffer from this disorder.

Men with the abnormal gene are more severely affected than women, and many of these men do not survive. Symptoms of the following disorders may be similar to those of cerebrovascular malformations. Comparison may be useful for differential diagnosis.

Malformation of cerebral vessels is a congenital structural anomaly in which they are located in the form of an uneven tangle with an absent capillary network.

They occur with a frequency of 19 per 100 thousand population per year. The first half of life is often asymptomatic. Most often, young able-bodied men aged 20-40 suffer from the consequences of this anomaly. Symptoms of vascular malformation of the brain usually appear, which can be catastrophic.

Prevention of arteriovenous malformation

Moyamoya disease is a progressive disease that affects the blood vessels in the brain. This lack of blood can cause semi- or complete paralysis of the legs, feet or upper limbs. A brain aneurysm is an enlargement, bulging, or inflation of part of the wall of a vein or artery in the brain. Cerebral aneurysms can occur at any age, although they are more common in adults than children, and they are more common in women than men.

Diagnosis of vascular malformations

The signs and symptoms of an uncontrolled cerebral aneurysm depend in part on its size and rate of growth. For example, a small, unchanging aneurysm usually shows no symptoms, while a larger aneurysm that grows steadily may cause symptoms such as loss of feeling in the eyes or eye problems. Immediately before an aneurysm ruptures, an individual may experience symptoms such as a sudden and unusually severe headache, nausea, blurred vision, vomiting, and loss of consciousness.

Malformation of the spinal cord vessels accounts for 4-5% of all space-occupying diseases of the spinal canal. It is found twice as often in men as in women. The peak incidence occurs between the ages of 20-40 years.

Reasons for the development of the disease

A genetic mutation or harmful factors acting during pregnancy leads to underdevelopment or improper formation of the capillary network and vascular wall, which is why they take unusual look and structure.

Features of the disease in pregnant women

Violation cerebral circulation. Cerebrovascular accidents occur because the blood supply to the brain has been cut off or reduced. Thrombotic strokes occur when a clot narrows or completely blocks an artery in the neck or head. This is typically the result of a buildup of fatty materials and calcium on the lining of blood vessels. Embolic strokes occur when a clot breaks away from a diseased artery in another part of the body or heart and clogs a smaller artery in the brain.

Some researchers believe that the problem lies in the malfunction of the vascular endothelial growth factor, which is responsible for their formation and development. As a result, one of four types of pathology is formed:

capillary telangiectasia;
cavernous hemangiomas;
venous malformations of the brain;
arteriovenous malformations of cerebral vessels.

How do symptoms occur?

In the pathological tangle of vessels there are no capillaries, so the arteries pass directly into the veins, without obstacles. The resistance that the capillary network creates is not created, so the blood flow in this place is accelerated. Blood from nearby normal vessels flows along a pressure gradient into this area.

Hemorrhagic strokes occur when a blood vessel ruptures in or around the brain, depriving the area of circulating blood. Each type of stroke has its own symptoms, progression, and prognosis. Clumsiness, headaches, difficulty speaking, weakness, or paralysis on one or both sides of the body may occur. A stiff neck, nausea, vomiting and loss of consciousness are also common symptoms.

Current treatment options vary depending on the severity and location of the malformation. Surgical excision, multiple embolization and radiation are the currently used treatment methods. In some cases, treatment may not be necessary. Recently introduced techniques include particle beam and stereotactic radiosurgery. Patients and their families may benefit from genetic counseling if they have an inherited form of this disorder. Other treatment is symptomatic and supportive.

As a result, the effect of robbing brain tissue of nutrients and hypoxia develops. There is no normal exchange of oxygen and carbon dioxide in this place, since they cannot penetrate the arterial wall.

In addition, vascular malformation of the brain compresses and pushes away adjacent areas of tissue or spinal cord roots, disrupting their function. With age, the walls of pathological vessels thicken, thrombose, and undergo degeneration. Due to the symptom of stealing, nearby arteries and veins reflexively dilate. This leads to progression of the disease.

External manifestations and complications

US government funding, as well as some supported by private industry, are posted on this government website. For information on privately sponsored clinical trials, please contact. Harrison Principles of Internal Medicine. 16th ed.

Congenital developmental errors. 1st ed. Nelson's training manual in pediatrics. 17th ed. Vascular tumors and malformations. Hereditary hemorrhagic telangiectasia. Cerebral arteriovenous malformations in adults. Update on endovascular treatment of cerebrovascular diseases.

How does it manifest?

Vascular malformation of the brain can be asymptomatic and may be an incidental finding during. Often signs of the disease appear after injury, stress, or pregnancy, but the reason for this is not clear.

According to the predominant symptoms there are:

Torpid type of flow. Characteristic manifestations are epileptic seizures and symptoms of progressive neurological deficit. Accompanied by general cerebral symptoms reflecting an increase: headache, dizziness, nausea. They are not specific, therefore, this disease cannot be suspected only by their presence;
The hemorrhagic type is manifested by bleeding as a result of rupture of blood vessels. Manifestations of a stroke depend on the location: paralysis of the limbs, loss of visual fields, speech impairment and many others.
Arteriovenous malformation of the spinal cord is manifested by radicular pain, which intensifies after hot baths, night rest, since at this time the vessels dilate and compress more strongly nerve endings. Afterwards, the pain is accompanied by a violation of skin sensitivity, which increases over time.

Depending on the location of the vascular tangle, spinal symptoms develop: impaired walking, weakness in the arms, disorders of the pelvic organs.

Natural history, evaluation and treatment of intracranial vascular malformations. Removal results after stereotactic radiosurgery for cerebral arteriovenous malformations. Concept of arteriovenous defective compartments and surgical management. Intracranial cavernous hemangioma: practical review clinical and biological aspects.

Cerebrovascular malformations. Brainstem cavernoma demonstrates dramatic, spontaneous reduction in size during follow-up: a case report and review of the literature. Pathologically proven cavernangiomas of the brain after radiation therapy for pediatric brain tumors.

Diagnostics

If vascular pathology of the brain or spinal cord is suspected, their course is visualized:

In the images taken after, you can see pathologically changed vessels.
Computed tomography with contrast also allows you to see the source of the disease.
X-ray cerebral angiography involves injecting contrast into the vascular system, after which an image is taken. This method identifies all the vessels included in the ball.
Duplex scanning is based on recording the blood flow in the vessel, making it possible to see the area of the malformation.

What to do?

Diagnosis and surgical treatment of hemangiomas of the cavernous sinuses: experience of 20 cases. Vascular lesions orbits in children. Molecular pathogenesis of vascular anomalies: classification into three categories based on clinical and biochemical characteristics. Potential complications of segmental hemangioma of infancy.

Hereditary vascular anomalies: new understanding of their pathogenesis. Understanding angiogenesis: key to understanding vascular malformations. Periorbital lymphatic malformation: clinical course and treatment in 42 patients. Vein of galenic malformations: a review.

Surgical treatment consists of gradually turning off the vessels supplying the tangle from the blood circulation and removing it;
The minimally invasive method involves inserting a thin conductor into the vessel under X-ray control, which delivers the drug to the required location. It acts on the vascular wall and causes it to stick together;
Irradiation with a proton beam gradually sclerosis of pathological vessels. This method allows you to cure the disease without incisions and complications, however, it takes a lot of time. Suitable for small tangles located deep in the brain tissue.

Malformations of the spinal cord vessels are more difficult to treat. Firstly, access to the inside of the spinal canal is difficult, and secondly, the danger of damaging brain structures is high. Therefore, most often the damaged vessels are embolized.

Surgical treatment of pediatric stroke. Biological “scraper” of pulmonary arteriovenous malformations: considerations when performing conepulmonary surgery. Vascular morphogenesis: tales of two syndromes. Hereditary hemorrhagic telangiectasia. Ataxia telangiectasia with vascular abnormalities in the brain parenchyma: autopsy report and review of the literature.

Online Mendelian Inheritance in Man. Arteriovenous malformations of the brain. Respiratory arteriovenous malformation is an abnormal connection between arteries and veins in the brain that usually forms before birth. This allows blood to flow into the brain or surrounding tissues and reduces blood flow to the brain.

A few words in conclusion

Arteriovenous malformation of the brain and spinal cord is a fairly rare disease. However, it is characterized by severe symptoms and can lead to irreversible neurological deficits. Therefore, at the first signs of pathology you need to consult a doctor.