Malformations of the skull can manifest themselves in a discrepancy between the size of the skull and the volume of the brain and the presence of external deformities (craniosynostosis, hypertelorism); in incomplete closure of the bones of the skull and spinal canal with the formation of defects through which the contents of the skull and spinal canal can protrude (cerebral and spinal hernias); in the deformation of the skull, leading to compression of important brain structures (platybasia, basilar impression).

Craniostenosis(from Greek kranion - skull + Greek stenosis - narrowing) - a congenital pathology of the development of the skull, manifested in the early fusion of the cranial sutures, resulting in deformation of the skull and a discrepancy between its volume and size of the brain.

In the first years of a child's life, the mass of the brain continues to increase and the volume of the head increases. By one year, the size of a child's head is 90%, and by 6 years, 95% of the size of an adult's head. The cranial sutures close only by 12–14 years of age. If the process of closing the sutures is disturbed and their early ossification occurs, then the child's skull ceases to increase, which in cases of severe pathology can lead to severe brain damage. Premature closure of all sutures of the skull is possible. However, premature fusion of individual sutures is often noted: coronal, sagittal, etc., which leads to severe deformation of the skull. There are several forms of craniostenosis.

Scaphocephaly(from Greek skaphe - boat + Greek kephale - head), characterized by a peculiar elongated, laterally compressed shape of the skull.

This type of craniostenosis occurs due to a prematurely overgrown sagittal suture. In this case, the increase in the size of the skull in the transverse direction stops and continues in the direction from front to back.

With premature ossification of the coronal suture, the increase in the skull in the anteroposterior direction stops, the so-called brachycephaly(from Greek brachys - short).

Often, early fusion of the coronal suture is accompanied by underdevelopment of the orbits, sphenoid bone, bones of the facial skull ( cruzon syndrome in which craniostenosis is combined with exophthalmos due to underdevelopment of the orbits, oral cavity). With a cranial anomaly close to this type Apert syndrome there is also syndactyly).

With unilateral premature closure of the coronal suture, flattening of the forehead, underdevelopment of the orbit and elevation of its orbital edge are noted - plagiocephaly (from the Greek plagios - oblique).

With the pathology of the so-called metapic suture (between the frontal bones), the head acquires a triangular shape - trigonocephaly(from the Greek. trigonon - a triangle). Early fusion of several sutures leads to a general decrease in the volume of the skull, its deformation - a tower skull or acrocephaly(from the Greek akros - high) with underdevelopment of the sinuses and eye sockets.

With craniostenosis, in addition to the types of skull deformation described, symptoms of brain damage can be observed. They are most pronounced with premature ossification of several sutures, when the discrepancy between the growing brain and the skull that has stopped in its development can reach an extreme degree of severity.

In these cases, the symptoms of intracranial hypertension come to the fore: headache, vomiting, congestion in the fundus, leading to decreased vision, cerebral phenomena. During craniographic examination, characteristic signs of craniostenosis are determined: fusion of sutures, absence of fontanelles and pronounced digital impressions.

Surgery. The most common treatment for craniostenosis is resection of the bone along the ossified sutures to increase the size of the skull.

With severe deformities of the skull, reconstructive operations have been widely used recently, the nature of which is determined by the type of craniostenosis.

So, with brachycephaly caused by premature fusion of the coronal suture, the so-called Fronto-orbital extension is carried out. For this purpose, two bone blocks are formed, consisting of the orbital edge and the frontal bone, which are mixed anteriorly and fixed with wire sutures or special metal plates.

Scaphocephaly and acrocephaly (tower skull) require a more complex skull reconstruction. In Crouzon's disease, the most complex surgical correction of combined anomalies of the brain and facial skull is performed, which includes, in addition to fronto-orbital advancement, also movement upper jaw.

The performance of the described reconstructive operations requires the use of special surgical instruments: pneumatic and electric craniotomes, oscillating saws, special cutters. Operations for craniostenosis should be performed in the first 3–4 months of life in order to prevent the development of severe skull deformity.

Craniosynostosis is characterized by premature fusion of one or more cranial sutures, often resulting in an abnormal head shape. This may be the result of primary abnormal ossification (primary craniosynostosis) or, more commonly, a brain growth disorder (secondary craniosynostosis).

The disease often occurs in utero or at a very early age. It lends itself exclusively to surgical treatment, although a positive outcome is not possible in all cases.

Classification of craniosynostosis and the causes of its development

Normal ossification of the cranial vault begins in the central region of each cranial bone and extends outward to the cranial sutures. What shows the norm?

• When the coronal suture separates the two frontal bones from the parietal bones.
• The metopic suture separates the frontal bones.
• The sagittal suture separates the two parietal bones.
• The lambdoid suture separates the occipital bone from the two parietal bones.

The main factor that holds back the untimely fusion of the bones of the skull is the ongoing growth of the brain. It is worth emphasizing that the normal growth of each cranial bone occurs perpendicular to each suture.

• Simple craniosynostosis is the term used in situations where only one suture is fused prematurely.
• The term complex or junctional craniosynostosis is used to describe premature fusion of multiple sutures.
• When children showing symptoms of craniosynostosis also suffer from other body deformities, this is called syndromic craniosynostosis.

Primary craniosynostosis

With premature fusion of one or more sutures, skull growth may be limited by perpendicular sutures. If several sutures are fused while the brain is still changing in size, intracranial pressure may increase. And this often ends with a series of complex symptoms, up to death.

Varieties of primary craniosynostosis (premature fusion)

• Scaphocephaly - sagittal suture.
• Anterior plagiocephaly is the first coronal suture.
• Brachycephaly is a bilateral coronal suture.
• Posterior plagiocephaly is early closure of one lambdoid suture.
• Trigonocephaly is premature fusion of the metopic suture.

Secondary craniosynostosis

More often than in the primary type, this type of pathology can lead to early fusion of the sutures due to primary failure of brain growth. Since the growth of the brain controls the distance of the bone plates from each other, the disorder of its growth is the main cause of premature fusion of all sutures.

With this type of pathology, intracranial pressure is usually normal, and there is rarely a need for surgery. Typically, the lack of brain growth leads to microcephaly. Premature closure of the suture, which does not pose a threat to brain growth, also does not require surgical intervention.

Intrauterine space restrictions may play a role in premature fusion of the fetal skull sutures. This has been demonstrated in cases of coronal craniosynostosis. Other secondary causes include systemic disorders affecting bone metabolism such as rickets and hypercalcemia.

Causes and consequences of early craniosynostosis

Several theories have been proposed for the etiology of primary craniosynostosis. But the variant with the etiology of a primary defect in the mesenchymal layers of the skull bones has become the most widespread.

Secondary craniosynostosis usually develops along with systemic disorders

1. These are endocrine disorders (hyperthyroidism, hypophosphatemia, vitamin D deficiency, renal osteodystrophy, hypercalcemia and rickets).
2. Hematological diseases that cause bone marrow hyperplasia, such as sickle cell disease, thalassemia.
3. Low growth rates of the brain, including microcephaly and its underlying causes, such as hydrocephalus.

Causes of syndromic craniosynostosis are genetic mutations responsible for class 2 and 3 fibroblast growth factor receptors.

Other important factors to consider when studying the etiology of the disease

• Differentiation of plagiocephaly, which is often the result of positional fusion (which does not require surgery and is quite common) from fusion of the lambdoid suture, is an extremely important aspect.
• The presence of multiple adhesions is suggestive of a craniofacial syndrome, which often requires diagnostic expertise in pediatric genetics.

Symptoms of craniosynostosis and diagnostic methods

Craniosynostosis in all cases is characterized by an irregular shape of the skull, which in a child is determined by the type of craniosynostosis.

Main features

• Rigid bone ridge, well palpable along the pathological suture.
• The soft spot (fontanelle) disappears, the child's head changes shape, the sensitivity in these areas is usually changed.
• The baby's head does not grow in proportion to the rest of the body.
• Increased intracranial pressure.

In some cases, craniosynostosis may not be noticeable until several months after birth.

Elevated intracranial pressure is a common feature of all types of craniosynostosis, with the exception of some secondary pathologies. When only one suture is fused prematurely, increased intracranial pressure occurs in less than 15% of children. However, in syndromic craniosynostosis, where multiple sutures are involved, an increase in pressure can be observed in 60% of cases.

If a child suffers from a mild form of craniosynostosis, the disease may not be noticed until patients begin to experience problems due to increased intracranial pressure. This usually occurs between the ages of four and eight.

Symptoms of increased intracranial pressure

• They begin with persistent headaches, usually worsening in the morning and at night.
• Vision problems - double vision, blurred vision, or color vision problems.
• An unexplained decrease in the child's mental abilities.

If a child complains of any of the above symptoms, a pediatrician should be contacted as soon as possible. In most cases, these symptoms will not be caused by increased intracranial pressure, but they should definitely be studied.

If left untreated, other symptoms of increased intracranial pressure may include:

• vomiting;
• irritability;
• lethargy and lack of reaction;
• puffy eyes or difficulty seeing a moving object.
• hearing impairment;
• labored breathing.

A close examination of the skull makes it clear that its shape does not always confirm the diagnosis of craniosynostosis. In such cases, a number of visual examination methods are used, for example, an x-ray of the skull.

Radiography is performed in several projections - anterior, posterior, lateral and top. Prematurely fused sutures are easily identified by the absence of connected lines and the presence of bony ridges along the suture line. The sutures themselves are either not visible, or their localization shows evidence of sclerosis.

A cranial computed tomography with 3D projection is generally not required for most infants. The method is sometimes performed when surgery is being considered as the next step in treatment or if radiographic findings are inconclusive.

Pathology correction methods, possible complications and consequences

In the last 30 years, modern medicine has developed a deeper understanding of the pathophysiology and treatment of craniosynostosis. At present, surgery generally remains the main type of treatment for correcting skull deformities in children with fusion of 1-2 sutures resulting in an ugly head. Children with microcephaly, which is often seen in mild craniosynostosis, usually do not require surgery.

When drawing up a therapeutic regimen, specialists must take into account a number of points.

• Patients with microcephaly should have studied the cause of this disease.
• On first contact head circumference is measured in the longitudinal direction and further monitoring for changes. The physician should ensure normal brain growth in patients with primary craniosynostosis.
• Should be carried out regularly Watch for signs and symptoms of increased intracranial pressure.
• If there is a suspicion of increased intracranial pressure, then it is very appropriate neurosurgical consultation.
• To preserve visual function in patients with elevated intracranial pressure, additional ophthalmological consultations.

Surgical treatment is usually planned for increased intracranial pressure or to correct a deformity of the skull. The operation is usually performed in the first year of life.

Conditions for surgery

1. If the shape of the head does not change for the better at the age of two months, then the anomaly is unlikely to change with age. Early intervention is indicated if children may be candidates for minimally invasive surgery. It should be noted that the deformation is more noticeable in breastfeeding, and it may become less obvious with age.
2. As the child grows, he has more hair, the visible manifestations of the anomaly may decrease.
3. Indications for surgical correction of craniosynostosis depend on the age, general condition of the child and the number of prematurely fused sutures.
4. Surgical treatment of a cranial or craniofacial deformity is performed in children aged 3-6 months, although the variety of approaches varies among surgeons.

Surgery in infants can result in relatively large blood volume losses. Accordingly, minimally invasive surgical techniques should be considered. One of the promising is the use of intraoperative tranexamic acid. Patients with indications for surgical correction of craniosynostosis were subjected to pretreatment with erythropoietin and tranexamic acid, which allowed them to maintain lower volumes of blood loss.

Other features of surgery

• Surgery in infants over 8 months of age may be associated with reduced skull growth.
• Infants diagnosed with syndromic craniosynostosis should be operated on as soon as possible.
• The results of surgery are best when performed on infants under 6 months of age.

CHAPTER 24

CHAPTER 24

24.1. GENERAL PROVISIONS

anomalies(from the Greek. anomalia - deviation, meaning deviation from the norm, from the general pattern, irregularity) - structural deviations from the norm, due to violations of prenatal development; they are birth defects that become apparent at birth or in early childhood. Pronounced anomalies are called developmental defects. Malformations in which any part of the body or the whole body is disfigured are sometimes called deformities or denoted by the French word "monster" however, these terms naturally raise objections from the point of view of ethics and deontology.

Congenital anomalies are deviations from the norm in the structure of individual parts of the body, organs and tissues. Congenital anomalies of metabolic processes are possible; their consequence may be, in particular, various variants of oligophrenia.

According to the etiological basis, 3 groups of congenital anomalies are distinguished: a) hereditary, resulting from inherited or spontaneous mutations; hereditary anomalies can be divided into genomic, chromosomal and gene; b) exogenous, caused by infectious or toxic teratogenic damage to the embryo or fetus, and c) multifactorial. Congenital anomalies include various forms disorders in the development of organs and tissues. one. agenesia- complete congenital absence of the organ. 2. aplasia- congenital absence of an organ in the presence of its vascular pedicle.

3. The absence or underdevelopment of certain parts of the body and organs, while the insufficiency of their development is often indicated by a compound term, including the Greek word oligos(small) and the name of the defective organ: for example, oligogeria - insufficiency of the cerebral convolutions, oligodactyly - insufficient number of fingers. 3. congenital hypoplasia- underdevelopment of the body, manifested by the insufficiency of its mass or size. There are simple and dysplastic forms of hypoplasia. With a simple form, there are no qualitative changes in the structure and functions of the organ; dysplastic hypoplasia, on the other hand, affects the functional state of the organ (for example, dysplastic hypoplasia of the eye, or microphthalmos, is accompanied by visual impairment).

4. Congenital malnutrition- weight loss of the fetus or newborn. five. congenital hyperplasia, or hypertrophy,- a relative increase in the mass of a body part or organ. 6. Macrosomia (gigantism)- an increase in the body or part of it; with an increase in individual organs or their parts, sometimes

Greek term changes pachis (thick): for example, pachyacria - thickening of the phalanx of the finger, pachygyria - thickening of the cerebral gyrus. 7. Heterotopia- the presence of cells, tissues or a whole section of an organ in another organ or in those parts of the same organ in which they should not be, for example, the presence of pear-shaped Purkinje cells in the granular layer of the cerebellar cortex. Tissue heterotopia is characteristic of some tumors, such as teratoma, dermoid cyst, cholesteatoma. 8. heteroplasia- violation of tissue differentiation, can also be the basis of tumor growth. nine. ectopia- displacement of the organ, its location is not in the usual place. 10. Doubling- 2 times increase in the number of organs or their parts; the prefix "poly" (from the Greek polis - a lot) means an increase in their number by an indefinite number of times, for example polydactyly, polygeria. 11. Atresia- the complete absence of a vessel, channel or opening, for example, atresia of the aqueduct of the brain, atresia of the external auditory canal. 12. Stenosis- narrowing of the vessel, channel or opening. 13. Non-separation organs, parts of the body. The names of anomalies in which there is non-separation of the limbs or their parts have the prefix "sym" or "syn" (together), for example sympodia - non-separation of the legs, syndactyly - non-separation of fingers. The non-separation of two symmetrically or asymmetrically developed identical twins is also possible. unseparated twins("Siamese twins") are called pugs adding to this word Latin name parts of the body with which they are connected, for example, when fused with heads - craniopagi (see Fig. 24.3), chest - thoracopagi etc. fourteen. persistence- preservation of structures that normally disappear by a certain period of embryonic development. Persistence of embryonic tissue can cause the development of tumors arising from dysembryogenesis (according to Konheim's theory), for example, craniopharyngioma. 15. dysraphia- non-closure of the embryonic median fissure - non-closure of the upper lip, palate, vertebral arches, etc. 16. Inversion- reverse (mirror) arrangement of organs.

Prenatal, in particular embryonic, development nervous system- the most complex process that can be disturbed under the influence of various reasons, including inherited features of the gene pool and endogenous or exogenous influences, primarily intrauterine trauma, infection and intoxication. The nature of the resulting anomalies largely depends on the phase of development of the nervous system: the stages of formation of the neural tube (the first 3.5-4 weeks), the formation of cerebral vesicles (4-5 weeks), the cerebral cortex (6-8 weeks), etc. Due to these reasons, various defects in the development of the brain and spinal cord, skull and spine can occur. These defects can occur in isolation or in various combinations.

Secondary developmental disorders and deformities of the skull and brain in the prenatal period, during childbirth or in early childhood, as well as at a later age, may be the result of traumatic injuries, infectious diseases, and sometimes unspecified circumstances. Secondary deformations of the tissues of the head and brain can be caused by premature fusion of the cranial bones, hydrocephalus, rickets, Paget's disease, marble disease, etc.

More than 30% of all anomalies found in children fall on the share of CNS developmental disorders (Huidi C., Dixian J., 1980). The frequency of congenital anomalies in the development of the central nervous system varies, its average rate is 2.16 per 1000 births.

24.2. craniosynostosis, craniostenosis

One of the causes of skull anomalies is premature and sometimes uneven ossification of the cranial sutures - craniosynostosis(from the Greek kranion - skull and sinostosis - fusion). Normally, in newborns, all the bones of the cranial vault are not fused, the anterior and posterior fontanelles are open. The posterior fontanel closes by the end of the 2nd month, the anterior fontanel closes during the 2nd year of life. By the end of the 6th month of life, the bones of the cranial vault are interconnected by a dense fibrous membrane. By the end of the 1st year of life, the head size of a child is 90%, and by the age of 6 it reaches 95% of the head size of an adult. The closure of the sutures by connecting the jagged edges of the bones begins by the end of the 1st year of life and ends completely by the age of 12-14.

Premature and uneven overgrowth of fontanelles and cranial sutures in children leads to the development craniostenosis(from the Greek kranion - skull and stenosis - narrowing) and, consequently, to insufficient volume of the cranial cavity, which prevents the normal development of the brain and leads to the creation of conditions for liquorodynamic disorders. The frequency of craniostenosis is 1 per 1000 newborns. With craniostenosis, intracranial pressure is usually increased, which is why hypertensive headache is characteristic, congestive optic discs may develop, followed by their secondary atrophy and visual impairment, mental retardation (for more on intracranial hypertension, see Chapter 20).

There are primary (idiopathic) and secondary craniosynostoses. The development of secondary craniosynostosis can be due to various reasons. These may include vitamin D-deficient rickets, hypophosphatemia, overdose of thyroid hormone in cases of treatment of congenital hypothyroid oligophrenia (cretinism).

The overgrowth of the sutures of the skull is not only premature, but also uneven, usually leading to skull deformities. In the process of monitoring the development of the shape of the brain skull, the so-called cranial index (CHI) - the ratio of the transverse size of the skull to its longitudinal size, multiplied by 100. With a normal (average) ratio of the transverse and longitudinal dimensions of the head (with mesocephaly), the cranial index in men is

76-80.9, for women - 77-81.9.

With premature overgrowth of the sagittal suture (sagittal synostosis), a dolichocephaly, in which the skull increases in the anteroposterior direction and is reduced in transverse size. In such cases, the head is narrow and elongated. CI is less than 75.

A variant of dolichocephaly caused by premature fusion of the sagittal suture (Fig. 24.1), in which there is a limitation of the growth of the skull in the transverse direction and its growth in length turns out to be excessive, can be scaphocephaly(from Greek skaphe - boat), cymbocephaly(navicular head, keel-headed), in which a long narrow head is formed with a protruding forehead and occiput, resembling a boat turned upside down with a keel. saddle is called a skull elongated in the longitudinal direction with an impression in the parietal region.

A variant of skull deformity, in which the skull has an increased transverse size due to premature fusion of the coronal (coronal) sutures (coronary, or coronal, synostosis), is brachycephaly(from the Greek brachis - short and kephale - head), while the head is wide and

Rice. 24.1.Scaffocrania in a 5-year-old child.

shortened, cranial index over 81. In brachycephaly due to bilateral coronary synostosis, the face is flattened, exophthalmos often manifests itself.

With premature fusion of the coronal suture, on one side, a plagiocephaly, or oblique head (from Greek plagios - oblique and kephale - head). In such cases, the skull is asymmetrical, the frontal bone is flattened on the side of the synostosis, and exophthalmos and an increase in the middle and posterior cranial fossae are possible on the same side.

If premature combined fusion of the coronary and sagittal cranial sutures occurs, the growth of the skull occurs mainly towards the anterior fontanel and base, which leads to an increase in the height of the head while limiting its growth in the longitudinal and transverse directions. As a result, a high conical skull is formed, somewhat flattened in the anteroposterior direction. (acrocrania), he is often called tower skull(Fig. 24.2). Tower skull variant - oxycephaly, or a pointed head (from the Greek oxys - sharp, kephale - head), in which early overgrowing of the cranial sutures leads to the formation of a high, tapering upward skull with a forehead sloping back.

A variant of skull deformation, characterized by a narrow frontal and wide occipital bones, is formed due to premature overgrowing

forehead seam. In this case, the frontal bones fuse at an angle (normally, the frontal suture overgrowth occurs only by the end of the 2nd year of life) and a “comb” is formed at the site of the frontal suture. If in such cases the posterior parts of the skull compensatory increase and its base deepens, trigonocrany, or triangular skull(from Greek trigonon - triangle, kephale - head).

Isolated synostosis of the lambdoid suture is extremely rare and is accompanied by flattening of the occiput and compensatory expansion of the anterior part of the skull with an increase in the anterior fontanelle. Often it is combined with premature closure of the sagittal suture.

Rice. 24.2.Tower skull in a 3-year-old child.

An example of a combination of genetically determined craniostenosis with other pathological manifestations can be Tersil's symptom complex(described in 1942 by the French doctor Thersil M.): tower skull, exophthalmos, nystagmus, oligophrenia, epilepsy, atrophy of the optic nerves. On craniograms, there are usually manifestations of intracranial hypertension, in particular pronounced digital impressions.

With secondary craniostenosis at an early stage of its development, it can be effectively conservative treatment underlying disease. With primary craniostenosis, as well as with secondary craniostenosis in the case of already developed significant intracranial hypertension, a decompressive operation is indicated: the formation of craniectomy passages up to 1 cm wide along the line of suture ossifications. Timely surgical treatment of craniostenosis can ensure normal brain development in the future.

24.3. HYPERTELORISM AND HYPOTELORISM

One of the variants of the anomaly of the skull is hypertelorism(from the Greek tele - far, horismos - demarcation, separation), which is a consequence of the excessive development of the small wings of the main bone. The distance between the inner edges of the orbits is significantly increased, the bridge of the nose is wide, the bridge of the nose is flat, and the eyes are wide apart. It can be combined with microophthalmia, epicanthus, bilateral convergent strabismus, other anomalies, mental retardation.

Family forms of hypertelorism are inherited in an autosomal dominant manner. Hypertelorism can be one of the signs of hereditary diseases that have a different type of transmission (Cruzon, Greg syndromes, "cat's cry", etc.).

With hypertelorism, the interorbital circumferential index (IMO) is more than 6.8. IMO is equal to the result of dividing the distance (in centimeters) between the inner canthus of the eyes by the circumference of the head, multiplied by 100.

hypothelorismit is customary to call the decrease in the distance between the inner edges of the orbits; at the same time, underdevelopment of the nose is possible, the face looks like a monkey's face, IMO less than 3.8. Hypertelorism may be one of the signs of some hereditary diseases such as Patau syndrome.

24.4. MACROCRANIA, MICROCRANIA, CRANIOTABES, CRANIOSCLEROSIS

An increase in the size of the skull (macrocrania) can be not only congenital, but also acquired, for example, with rickets, imperfection of osteogenesis, cranioclavicular dysostosis.

Neonates may have asymmetric macrocrania and in connection with subdural hematoma, hygroma, arachnoid cyst in the region of the cranial vault. Asymmetry of the skull in brain hemiatrophy due to a traumatic or inflammatory lesion suffered in early childhood, accompanied by flattening, sometimes thickening of the bones of the cranial vault, is known as

Kopylov's symptom (described by the domestic neuroradiologist Kopylov M.B., born in 1887). It must be borne in mind that the asymmetry of the skull at birth may also be the result of subcutaneous or subgaleal hematoma.

With rickets, usually with its acute course, sometimes there is craniotabes- softening, thinning of the flat bones of the skull in the region of the anterior and posterior fontanelles, above the mastoid processes and along the cranial sutures. It is also possible to develop hyperostosis of the skull (craniosclerosis)- slowly progressive thickening and uneven increase in the size of the bones of the skull, often facial; observed, for example, in parathyroid osteodystrophy, neurofibromatosis, eosinophilic pituitary adenoma (somatotropinoma), and tumors of the skull bones.

24.5. CRANIOPAGIA

Craniopagia is one of the rarest and most dangerous congenital malformations; it represents the fusion of two identical twins with their heads (Fig. 24.3).

Separation of craniopagi is one of the most complex neurosurgical interventions, including the division of the brain of both infants, the blood vessels supplying them to the brain, the dura mater, and skin, and the implementation of complex reconstructive operations to replace the inevitable defects in the bones of the skull and soft tissues of the head during the separation of twins. About 30 operations for the separation of craniopagus are described in the literature, these operations, unfortunately, more often end in the death of one or both twins. The experience of a successful operation for the separation of craniopagus belongs to the Institute of Neurosurgery. N.N. Burdenko RAMN.

Rice. 24.3.Siamese twins fused at the head are craniopagi.

24.6. PLATIBASIA

An anomaly in the development of the skull, manifested by a flattening of its base, is platybasia (from the Greek platys - flat and basis - base). It can also be a consequence of prolonged intracranial hypertension that manifested itself in childhood. With platybasia, the posterior cranial fossa is especially flattened, the distance between the back of the Turkish saddle and the large occipital foramen is usually greatly increased; the angle formed by the clivus of the skull (Blumenbach clivus) and the anterior part of the base of the skull (frontal base, plane of the anterior cranial fossa), more than 105?; the anterior margin of the foramen magnum and the anterior arch of the atlas are somewhat elevated (Fig. 24.4b). Platybasia is sometimes asymptomatic, but may be accompanied by increased intracranial pressure. Congenital platybasia is observed in Down's disease, mucopolysaccharidoses, can be combined with Arnold-Chiari anomaly, achondropathy. Acquired platybasia is possible with Paget's disease, osteomalacia, fibrous dysplasia, hypothyroidism, it may be accompanied by basilar impression.

24.7. BASILAR IMPRESSION

Basilar impression (basilar invagination, basilar impression) usually occurs against the background of congenital platybasia and is a deepening of the anterior part of the base of the occipital bone (the edges of the foramen magnum, occipital condyles) towards the subtentorial space. At the same time, craniograms show an increase in the angle between the clivus and the upper plate of the sphenoid bone (more than 130°, Fig. 24.4c), as well as the displacement of the upper cervical vertebrae, primarily the tooth of the II cervical (axial) vertebra above chamberlain lines (a conditional line connecting the posterior edge of the hard palate with the posterior edge of the foramen magnum, determined on the profile craniogram) and Lines de la Petit (conditional line between the tops of the mastoid processes, determined on the face craniogram). Typically, such patients have a short neck, limited mobility, low-lying border of hair growth on the neck. In the first or second decade of life, clinical manifestations of dysfunction of the structures located in the posterior cranial fossa and the upper cervical segments of the spinal cord (spastic tetraparesis, elements bulbar syndrome, nystagmus when looking down - nystagmus, "beating down", etc.), as well as disorders of liquorodynamics, manifested by hydrocephalus (see Arnold-Chiari-Solovtsev syndrome, chapter 11).

24.8. ATLANTOAXIAL JOINT SUBluxation

A risk factor is instability in the atlantoaxial joint. In such cases, even a slight injury can lead to its subluxation and a deep neurological defect due to compression of the spinal roots C I -C II and the corresponding nerves, as well as the vertebral arteries and the oral part of the spinal cord. In the event of a possible wedging

Rice. 24.4.Determination of platybasia and basilar impression.

a - normal: the hard palate, the tip of the tooth of the axial (II cervical) vertebra and the edge of the foramen magnum are located on the same line or the tip of the tooth of the axial vertebra is below this line, and the angle formed by the base of the anterior cranial fossa and the clivus is approximately 105 degrees ; b - platybasia: the angle of inclination of the clivus relative to the base of the anterior cranial fossa is more than 105 degrees; c - basilar impression: the apex of the tooth of the axial vertebra is above the line passing through the hard palate and the edge of the foramen magnum; slope angle greater than 105 degrees.

odontoid process of the II cervical (axial) vertebra into the foramen magnum, death usually occurs from respiratory arrest. There is a predisposition to subluxation of the atlantoaxial joint in Down syndrome, rheumatoid arthritis, and mucopolysaccharidosis.

24.9. ACROCEPHALOSYNDACTYLY

A multivariate group of congenital anomalies consists of various forms of combinations of the tower skull (acrocrania, acrocephaly) with various variants of finger anomalies (acrocephalosyndactyly, acrocephalopolysindactyly).

24.10. GRUBER SYNDROME

Among other hereditary diseases accompanied by severe bone pathology, in particular changes in the skull, one can note Gruber's syndrome, manifested by microcephaly, flattening of the orbits, exophthalmos, malformations of the facial skeleton, often splitting of the vertebral arches, meningeal and meningeal hernias at the spinal level. This syndrome is inherited in an autosomal recessive manner. Described it in 1933 by H. Gruber.

24.11. FINAL SKULL DEFECTS

On craniograms, it is sometimes possible to detect small congenital fenestrated skull defects localized in the sagittal plane or parasagittally, mainly in the parietal region. Fenestrated skull defects are sometimes combined with manifestations of dysraphia, in particular, dysraphia of the vertebral arches.

24.12. DYSOSTOSIS OF THE SKULL

Skull deformities can be a manifestation of various variants of dysostosis.

Cruson's craniofacial dysostosis, or "parrot" disease, - craniostenosis, caused by a combination of underdevelopment of the bones of the skull and premature overgrowth of the cranial sutures. Manifested by a change in the shape of the brain and facial skull, with characteristic hypertelorism, exophthalmos, strabismus, a peculiar hooked shape of the nose resembling a beak eagle or scaring. Possible underdevelopment of the lower jaw, malocclusion: the lower teeth in front of the upper (prognathia), hearing loss, pyramidal and cerebellar insufficiency, less often - other focal neurological symptoms. There may be various anomalies of the bones of the trunk and limbs. On the fundus, signs of stagnation are often noted, which can be replaced by secondary atrophy of the optic discs, accompanied by visual impairment.

It is inherited in an autosomal dominant manner. Described in 1912 by the French physician O. Crouzon (1874-1938).

Craniofacial dysostosis Franceschetti-Zvalen characterized by gross violations of the structure of the brain and facial parts of the skull ("fish face"). The face is elongated, the incision of the eyes is anti-Mongoloid, the upper and lower jaws are underdeveloped on both sides, hypoplasia of the structures of the pyramids of the temporal bones, deformities of the auricles, pronounced hearing loss, sometimes up to deafness, are noted. Often combined with other malformations. It is inherited in an autosomal dominant manner.

Cranio-clavicular-pelvic dysostosis of Chente-Marie-Sainton - a family disease characterized by delayed overgrowth of cranial sutures and fontanelles, brachycephaly, severe hypertelorism, hyperostosis of the bottom of the middle cranial fossa, lack of pneumatization of the pyramids of the temporal bones, underdevelopment of the upper jaws and maxillary sinuses, delayed development and dystrophy of permanent teeth, partial or complete underdevelopment of the clavicles (as a result of which the shoulder joints can be brought together on the chest until they touch), scoliosis, deep lumbar lordosis, sometimes splitting of the vertebral arches, spinal hernias. There may be manifestations of compression of the brachial plexus. The chest is conical, the pelvis is narrow, late ossification of the pubic bones, brachydactyly, brachymesophalangia, sometimes progressive hearing loss. X-ray reveals sclerosis of bone tissue, bone deformities, multiple spur-shaped bone thickenings. It is inherited in an autosomal dominant manner. Sporadic cases are also possible. Described in 1898 by J. Shentaner, R. Marie and R. Sainton.

24.13. SKULL PATHOLOGY IN SYSTEMIC

BONE DISEASES

Some neurological disorders are associated with systemic bone diseases, which, in this regard, the neurologist should be familiar with, therefore, below is a summary of this kind of bone pathology.

For fibrous osteodysplasia, or Braitsev-Lichtenstein disease, characteristic is a violation of the bone-forming function of the mesenchyme, which manifests itself in one or more bones, which leads to their deformation and the formation of rarefaction foci in them, usually delimited from healthy bone tissue by a sclerotic border. The volume of the affected bone may be increased. Tubular bones are more often affected, but characteristic changes can also be noted in the bones of the skull. In such cases, obliteration of the paranasal cavities, deformation of the orbits, narrowing of the openings at the base of the brain skull and in the facial skull, leading to dysfunction of the nerves and vessels passing through them, are possible. The disease, possibly hereditary, manifests itself from childhood. Described in 1927 by the domestic surgeon V.R. Braitsev (1878-1964), somewhat later - American pathologist L. Liechtenstein (1906-1977).

Deforming osteodystrophy (Paget's disease) more often manifested in men aged 40-60 years, characterized by gradually progressive

thickening of the cortical layer of the bones with the development of hyperostosis, deformation, curvature of the bones, the disorder of their structure, the formation of cysts in them; the bones of the brain skull, spine and long tubular bones are affected. The dimensions of the brain skull increase, the outer plate of the bones of the cranial vault is thickened in places, hyperostoses alternate with areas of disordered rarefaction of the bone. In connection with the deformation of the bone holes and canals of the base of the skull and intervertebral holes, the function of the cranial and spinal nerves is disturbed, and circulatory disorders are possible. Deformation of the orbits causes exophthalmos. Often there are signs of intracranial hypertension. The vertebrae are flattened; in the tubular bones, the bone marrow canals are narrowed, pathological fractures of the bones are possible, while the fracture line is clear, even, as in a fracture of a peeled banana (“banana fracture”); increased physiological curves of the spine. The process can be relatively limited or widespread. The content of calcium and phosphorus in the blood is normal or slightly increased, the activity of alkaline phosphatase is increased. A dominant type of inheritance with different expressivity is assumed. The disease was described in 1877 by the English surgeon J. Paget (1814-1899).

Marble disease (Albers-Schoenberg disease) - family generalized osteosclerosis, occurring with a leukemic blood reaction in children, with anemia and leukopenia in adults, often with atrophy of the optic nerves and deafness. Deformation of the brain and facial skull, fusion of the paranasal cavities with dense, structureless bone tissue are characteristic. Due to the gradual narrowing of the holes in the skull and intervertebral holes, polymorphic manifestations of damage to the peripheral nervous system can occur both at the cranial and vertebral levels. In the vertebrae, the bone beams of the spongy substance are thickened and compacted. In the tubular bones, there is a narrowing, and then the disappearance of the bone marrow cavities, the epiphyses are club-shaped thickened and transversely striated, there is a tendency to pathological fractures. It is inherited by an autosomal recessive type and then, manifesting itself in the phenotype in the first years of life, quickly leads to death, or by an autosomal dominant type, manifesting itself at the age of 20-40. Described the disease in 1907 by H.E. Abers Schonberg.

Albright syndrome is a multiple fibrous bone dysplasia, accompanied by pain and spontaneous fractures; in this case, damage to the upper wall of the orbit is possible. In such cases, unilateral exophthalmos is noted, on the same side - atrophy of the optic nerve, ophthalmoparesis. Headache, hearing loss, convulsions, oligophrenia, hyperthyroidism, areas of skin hyperpigmentation are common. It appears in childhood. In girls, precocious puberty is possible (menstruation begins at 5-8 years). The etiology is unknown. The syndrome was described in 1937 by the American endocrinologist F. Albright (born in 1900) et al.

Encephalophthalmic familial Krause-Rize dysplasia - ectomesodermal dysplasia, which manifests itself immediately after birth with mainly neurological and ophthalmological symptoms. Dolichocephaly, sometimes hydrocephalus, occipital or lumbosacral hernia, cerebellar ataxia, absences, oligophrenia, irritability, as well as ptosis of the upper eyelids, strabismus, myopia, retinal detachment, cataracts are characteristic. Possible splitting of the upper lip, hard palate, congenital heart defects and other developmental defects. It is inherited in an autosomal dominant manner. Described

this form of pathology in 1946, the Austrian doctor A.C. Krause and in 1958 the American ophthalmologist A.B. Reese.

Craniometaphyseal dysplasia - diffuse growth of the bone tissue of the skull and metaphyses of tubular bones. Characterized by a large head, hypertelorism, saddle nose, widely spaced teeth. Narrowing of the foramina at the base of the skull can cause damage cranial nerves and vascular disorders. The legs are usually disproportionately long, their articular zones are thickened. The course of the disease is slowly progressive. It is inherited in an autosomal recessive manner. Described this pathological process in 1957 O. Lehman.

Dzerzhinsky syndrome - familial hyperplastic periosteal dystrophy, manifested by a combination of malformations, with various types of craniosynostosis and basilar impression being characteristic. The bones of the brain skull and face are thickened, compacted, the nose is sharply protruding, the clavicles and sternum are thickened, sometimes a funnel-shaped chest is observed, the fingers are short, their phalanges are thickened. The syndrome is probably hereditary. The disease was described in 1913 by the Polish doctor V.E. Dzerzhinsky.

At chronic xanthomatosis, or Hand-Schuller-Christian disease, characteristic Christian triad: defects in the bones of the skull, exophthalmos and diabetes insipidus. In the skull, as well as in the vertebrae and tubular bones, reticulohistiocytic proliferation develops with the formation of granulomas and subsequent resorption of bone tissue. Above the hearths bone destruction first, dense painful bulges appear, then crater-like depressions form in the same zone. The destruction of the base of the skull and eye sockets may be accompanied by the omission of the eyeballs. Compression by granulomatous masses of the brain and cranial nerves leads to the development of a variety of neurological symptoms. On the craniogram, the skull bones are changed according to the type of "geographic map" (due to foci of osteoporosis with uneven contours). It is based on a genetically determined violation of lipid metabolism with the formation of tumor-like accumulations of fat-lipoid masses in various organs and tissues. At the same time, signs of hypochromic anemia are revealed in the blood, the content of cholesterol and lipoproteins is increased. The disease manifests itself in childhood (up to 10 years), more often in boys. It is inherited in an autosomal recessive manner. The disease was described in 1933 by the American pediatrician A. Hand (born in 1868), then by the American physician H.A. Christian (1876-1951) and Austrian radiologist A. Schuller (b. 1874).

Van Buchem Syndrome - hereditary generalized hyperostosis, which manifests itself after the onset of puberty with moderate signs of acromegaly. From the 3rd decade of life, exophthalmos, hearing impairment, peripheral paresis appear facial nerves. On radiographs, manifestations of generalized hyperostosis are noted, in the blood - an increase in the level of alkaline phosphatases, a normal content of calcium and phosphorus. The syndrome was described in 1952 by the Dutch therapist F. van Buchem.

Hypoplastic chondrodystrophy is a congenital disease characterized by impaired enchondral osteogenesis. Characterized by a large brain skull with a protruding occiput, a saddle nose, prognathism, short stature (up to 130 cm in adults) mainly due to shortening of the limbs (micromyelic nanism), short hands, pronounced lumbar lordosis. Possible radicular pain, lower paraparesis, obstructive sleep apnea. At birth, the body length is 46-48 cm, there is a significant lag in motor development, a moderate lag in mental development is possible.

development. On radiographs, disproportion of the brain and facial skull, flattening of the base of the skull, shortening of the tubular bones, thickening of the ilium, the wings of which are deployed, narrowing of the spinal canal are revealed. The type of inheritance is autosomal dominant, in 80% of cases the disease is due to new mutations.

dysraphic syndrome, or bremer syndrome, is a complex of embryogenesis defects located mainly along the midline: a high palate, splitting of the palate and upper lip (“cleft palate” and “ cleft lip”), uneven growth and misalignment of teeth, deformities of the skull, chest, cranio-vertebral anomalies, manifestations of syringomyelia, spinal deformities, splitting of the vertebral arches (spina bifida), spinal and cranial meningeal and meningeal hernias, accessory and asymmetric mammary glands , bedwetting.

24.14. CRANIO-BRAIN HERNIAS

A congenital malformation is craniocerebral hernia, which occurs with a frequency of 1:4000-5000 newborns. This form of malformation is formed on the 4th month of intrauterine development. It is a hernial protrusion in the area of ​​​​a bone defect, which can be different in size and shape. Hernias are usually localized at the junction of the bones of the skull: between the frontal bones, at the root of the nose, near the inner corner of the eye (anterior hernias), at the junction of the parietal bones and the occipital bone (posterior hernias). Anterior craniocerebral hernias are more common than others (Fig. 24.5). According to the localization of the external opening of the hernial canal, they are differentiated into nasofrontal, nasoethmoid and nasopharyngeal

Rice. 24.5.A child with nasoorbital hernia and hypertelorism before (a) and after (b) surgery.

Rice. 24.6.A child with a hernia in the occipital region.

nye. Posterior craniocerebral hernias (Fig. 24.6) are divided into upper and lower depending on where the defect is located in the occipital region: above or below the occiput. In addition to the named variants of craniocerebral hernias, the so-called basal hernias, in which there is a defect in the bones of the base of the skull at the bottom of the anterior or middle cranial fossa, and the hernial sac protrudes into the nasal cavity or nasopharynx. Rarely there are craniocerebral hernias in the area of ​​the sagittal suture.

The main forms of craniocerebral hernias are: 1) meningocele, in which the hernial sac is represented by skin and altered soft and arachnoid membranes, the dura mater usually does not take part in the formation of the hernial protrusion, but is fixed to the edges of the bone defect; the contents of the hernial sac in this case is CSF; 2) meningoencephalocele- the hernial sac is made up of the same tissues, and its contents, in addition to the CSF, also make up the brain tissue; 3) meningoencephalocystocele- hernial protrusion, in which, in addition to the same tissues, a part of the enlarged ventricle of the brain is also involved. Of these three forms of craniocerebral hernia, meningoencephalocele, often referred to as encephalocele, is more common. Histological examination of the hernial sac and its contents reveals thickening and thickening (fibrosis) of the soft and arachnoid membranes, severe atrophy and degeneration of the brain tissue in the hernial sac.

The surface of the hernial protrusion may be covered with unchanged skin or thinned, cicatricial skin with a bluish color. Sometimes, already at the birth of a child, there is a cerebrospinal fluid fistula in the center of the hernia. Often in the first years of a child's life, the size of the hernial protrusion increases significantly, while his skin becomes thinner and ulcerated. Possible rupture of the hernial sac with massive liquorrhea, life-threatening. In addition, ulcerations on the surface of the hernial sac and liquor fistulas are conceived to become infected, which can lead to the development of purulent meningoencephalitis. Hernial protrusion is on the leg (narrowed at the base) or has a wide base. In the latter case, it often pulsates, and when the child strains, it tenses. On palpation, the hernial protrusion can be of different density, elastic, fluctuating.

Anterior craniocerebral hernias cause disfigurement of the face, deformation of the eye sockets, nose, and a flattened wide bridge of the nose, an incorrect location of the eyeballs, and impaired binocular vision are often noted. With nasoorbital hernias, as a rule, deformation and obstruction are detected.

dimness of the lacrimal canal, often develop conjunctivitis, dacryocystitis. Basal craniocerebral hernias, located in the nasal cavity or nasopharynx, resemble polyps in appearance. If the hernial sac is located in one half of the nose, there is a curvature of the nasal septum; while breathing is difficult, speech is slurred with a nasal tinge.

Very large meningoencephaloceles (there is a description of an anterior craniocerebral hernia with a diameter of 40 cm) are usually accompanied by severe brain pathology, and newborns in such cases are not viable. The fate of other patients, as a rule, depends on the size and content of the hernial protrusion, as well as the possibility surgical treatment this malformation. Children often experience headaches and dizziness. Focal cerebral symptoms may be absent or moderately pronounced, but focal neurological symptoms are also possible, in particular, central paresis, hyperkinesis, movement coordination disorders, etc., signs of cranial nerve insufficiency (I, II, VI, VII, VIII, XII). Epileptic paroxysms, mental retardation are possible.

Craniocerebral hernias can be combined with other congenital anomalies: microcephaly, craniostenosis, hydrocephalus, microphthalmia, epicanthus, congenital ptosis of the upper eyelid, developmental anomaly retina eyes and optic nerves, colobomas (defects in the tissues of the eyeball), congenital hydrophthalmos, craniospinal anomalies, splitting of the vertebral arches.

Treatment of cerebral hernias. Indications for urgent surgery in a newborn are liquorrhea from the hernial sac or a rapid increase in the size of the hernia with thinning of its integument and the risk of rupture. In the absence of urgent indications for surgery, the child should be under the supervision of pediatricians, neuropathologists, neurosurgeons, who usually jointly decide on the possibility of providing neurosurgical care to the patient and determine the most favorable time for the operation. It must be borne in mind that surgical treatment of a craniocerebral hernia can be effective and often leads to a favorable result (Fig. 24.5).

The contraindications for surgery are inflammatory processes in the membranes and in the brain, pronounced neurological and mental disorders (imbecility, idiocy), manifestations of hydrocephalus, severe concomitant deformities.

Surgical treatment consists in isolating and excising the hernial sac while preserving its contents. Important milestones operations are hermetic suturing of the dura mater and careful plasty of the bone defect.

With a combination of nasopharyngeal hernia and hypertelorism, a complex reconstructive operation is performed, including plastic surgery of a bone defect and convergence of the orbits. Occipital hernias may contain venous sinuses of the dura mater, which must be kept in mind during surgery.

24.15. BRAIN DEFECTS

Malformations can manifest themselves in various combinations. So, for example, when Durand-Dzunin syndrome signs of dysraphia are combined with hydrocephalus, accompanied by an increase in the cerebral skull, agenesis

transparent septum, splitting of the vertebral arches, curvature of the feet and bilateral hypoplasia of the kidneys, leading to impaired water metabolism. The syndrome is familial, apparently hereditary. It was described in 1955 by Italian pediatricians S. Durand and F. Zunin.

In a special group of developmental anomalies, pronounced

secondary congenital malformations of the skull and brain that arose in different periods of ontogenesis. The causes of such anomalies are diverse: maternal diseases during pregnancy, radiation exposure, traumatic injuries to the fetus, exposure to the fetus of various toxic factors, in particular alcohol and numerous medicines that have a teratogenic effect. Malformations of the central nervous system are the result of one or more of the main pathological processes that disrupt the development of the brain: the formation of the neural tube, the division of its cranial section into paired formations, the migration and differentiation of cellular elements of the nervous tissue. They can manifest themselves at three levels: cellular, tissue and organ.

Below is a description of some defects in the development of the brain and skull that occur in the process of ontogenesis (due to dysembryogenesis).

Anencephaly- absence of a large brain, bones of the cranial vault and soft tissues covering it. On site medulla usually there is a connective tissue rich in blood vessels, with cystic cavities lined with medullary epithelium, glial tissue, single nerve cells, remnants of choroid plexuses.

Exencephaly- lack of bones of the cranial vault (acrania) and soft integuments of the head, as a result of which the cerebral hemispheres are located openly on the base of the skull in the form of separate nodes covered with a pia mater.

Hydroanencephaly - complete or almost complete absence of the cerebral hemispheres with the preservation of the bones of the cranial vault and its integumentary tissues. The head is of normal size or slightly enlarged. The cranial cavity is filled mainly with CSF. The medulla oblongata and cerebellum are sufficiently developed. The midbrain and other parts of the brain may be absent or rudimentary. For the first time this form of defect was described by J. Kruvelye in 1835 under the name "hydrocephalic anencephaly".

Porencephaly true - the presence in the tissue of the telencephalon of cavities of different sizes, lined with ependyma and communicating with the ventricular system and subarachnoid space.

False porencephaly - closed cavities big brain, which do not have an ependymal lining and are cysts after encephalomalacia of various origins.

Cystic dysplasia of the brain, or polyporencephaly, - congenital dysplasia of the cerebral hemispheres, characterized by the formation of multiple cavities in it, usually communicating with the ventricular system of the brain.

Prosencephaly- a malformation in which the cerebral hemispheres are separated from each other only by a shallow longitudinal groove, so the border between the right and left halves of the telencephalon is fuzzy (occurs with a frequency of 1:16,000).

Holoprosencephaly - a malformation of the brain, in which its cerebral hemispheres are not separated and look like a single hemisphere, and the lateral ventricles are represented by a single cavity. Often combined with other congenital

fates. Death usually occurs shortly after birth. May be a manifestation of trisomy of chromosomes 13-15. Defects of the telencephalon are accompanied by various, sometimes gross, violations of the structure of the face and its bones, in particular cebocephaly, ethmocephaly and cyclopia. Children with cyclopia are usually stillborn.

Agyria (lissencephaly) - underdevelopment of the convolutions of the cerebral hemispheres, while their surface is smoothed (smooth brain). Microscopy reveals a gross change in the architectonics of the cerebral cortex, the absence of ordinary cell layers in it. It is manifested by a pronounced violation of psychomotor development, polymorphic convulsions, paresis or paralysis. Children usually die within the first year of life.

Micro and polygyria - a defect in which there are many randomly located small convolutions on the surface of the cerebral hemispheres. Usually, microgyria manifests itself symmetrically and is accompanied by a violation of the layered structure of the cortex, which has no more than 4 layers.

Pachygyria (macrogyria) - Enlargement of the main convolutions, while the secondary and tertiary convolutions are absent, while the furrows are straightened, they are short and shallow. The cytoarchitectonics of the cortex in such cases is disturbed. In the white matter of the brain, there are heterotopias of nerve cells.

Hypoplasia, or aplasia (agenesis), corpus callosum - partial or complete absence of the corpus callosum. In the case of its aplasia, the third ventricle of the brain remains open. If only the posterior commissure is missing, and the corpus callosum itself is only shortened, then this is called hypoplasia.

Aicardi Syndrome- hypoplasia of the corpus callosum in combination with other defects, in particular with chorioretinal anomalies, this is characterized by spasms of the flexor muscles or myoclonic seizures, multiple lacunar foci in the vascular and retinal membranes of the eyes, detected by ophthalmoscopy in the peripapillary zone. The sizes of atrophic chorioretinal foci vary from small, less than the diameter of the optic nerve head, to a diameter of several of its diameters. Often there are dysraphic changes in the spine. Possible mental retardation, pendulum nystagmus, anomalies in the development of the eyes (microphthalmos, colobomas of the optic nerve and choroid, scleral ectasia, etc.). The syndrome is described only in girls, which suggests that the disease may be the result of a mutation in the X chromosome, which is lethal during the development of the male body. Described in 1956 by the French pediatrician J. Aicardi.

Microcephaly (Giacomini syndrome) - underdevelopment of the brain, manifested at birth by a decrease in its mass and size (Fig. 24.7). Microcephaly is usually combined with a reduced head circumference (not less than 5 cm from the average) and a further lag in the growth of the cerebral skull (microcranium), while its sutures can remain open for a long time. The bones of the skull are often thickened, diploid canals form early in them, and intracranial pressure is not increased. With microcrania, there is usually a corresponding decrease in the size and mass of the brain - microcephaly. Its morphological feature is the underdevelopment and abnormal structure of the cerebral hemispheres with a relatively normal architectonics of the cerebellum and brain stem. A child with microcephaly usually lags behind in mental, and often in physical development.

Microcephaly may be primary (true, genetically determined) and secondary. Primary microcephaly is a genetic

Rice. 24.7.Microcephaly in a 3-year-old child.

a defect inherited in an autosomal recessive manner or arising from chromosomal abnormalities. Secondary microcephaly can be caused by a prenatal infection (rubella, cytomegalovirus encephalitis, toxoplasmosis), intoxication or asphyxia, brain injury. With secondary microcephaly cystic cavities, foci of hemorrhage and calcification are possible in the brain. The appearance of children with microcephaly is peculiar and is characterized by a disproportion between the size of the brain skull and face. The frequency of microcephaly among newborns is 1:5000. Among all cases of oligophrenia, 11% are observed in patients with microcephaly.

Macrocephaly- an increase in the mass and volume of the brain, and with it the brain skull at birth, is much less common than microcephaly. In most cases, it is accompanied by a violation of the location of the cerebral gyri, changes in the cytoarchitectonics of the cortex, foci of heterotopy in the white matter, while usually observed manifestations of oligophrenia, convulsive syndrome is possible. The cause of macrocephaly may be damage to the brain parenchyma (lipoidosis). On craniograms, the bone sutures are not dilated, the ventricles of the brain are of normal or almost normal size. Macrocephaly should be differentiated from hydrocephalus.

Possible partial macrocephaly (enlargement of one of the cerebral hemispheres), which is usually combined with the asymmetry of the brain skull. Hemihypertrophy of the skull due to bulging of the scales of the temporal bone and adjacent sections of the frontal and parietal bones on one side can be associated with a deepening and expansion on the same side of the middle cranial fossa detected during craniography, and porosity of the wings of the sphenoid bone. In such cases hemihypertrophy of the skull indicates the likelihood of a non-tumor volumetric process in the middle cranial fossa (hematoma, hygroma, xanthoma, cystic arachnoiditis, etc.) and is known as Dyke syndrome.

24.16. BRAIN VENTRICULAR DEFECTS

Malformations of the ventricular system usually appear in the area of ​​its anatomical narrowing. Possible narrowing (stenosis and atresia) interventricular openings, aqueduct of the brain (Sylvian aqueduct), median and lateral apertures of the IV ventricle of the brain. In such cases, the development of internal hydrocephalus is characteristic, while in the case of interventricular atresia

holes on one side, asymmetric hydrocephalus occurs. Stenosis or atresia of the aqueduct of the brain, as well as its splitting, can be inherited, transmitted in an autosomal recessive manner, or be linked to the X chromosome. Incomplete opening of the apertures of the IV ventricle of the brain is often combined with manifestations of the Dandy-Walker syndrome (see 24.18).

Insufficiency of CSF outflow from the ventricular system in case of impaired patency (stenosis) of the cerebral aqueduct and apertures of the IV ventricle of the brain is usually manifested by the development internal uniform hydrocephalus, accompanied by stretching, thinning and atrophy of the brain tissue. The development of hydrocephalus is often accompanied by some anomalies of the skull base and upper cervical spine: platybasia, Klippel-Feil symptom, etc. The hypersecretory or aresorptive nature of hydrocephalus, usually caused by inflammation of the meninges, is also possible. The frequency of congenital hydrocephalus is 0.5 per 1000 newborns. See chapter 20 for more on hydrocephalus.

24.17. PHAKOMATOSES

Phakomatosis (from the Greek phakos - a spot, oma - a suffix meaning "neoplasm", "tumor", osis - a suffix meaning "process", "disease") - a group of hereditary diseases in which there is a combination of lesions of the nervous system, skin and internal organs. characteristic manifestations of phakomatosis are areas of impaired pigmentation of integumentary tissues (hyperpigmented or depigmented spots), shagreen plaques, fibromas, papillomas, angiomas, combined with a variety of neurological, mental, endocrine and somatic disorders. Most forms of phakomatoses are characterized by delays in the development of various functions, primarily movements and intelligence, as well as a decrease in adaptation to exogenous and endogenous factors, factors of the social environment. In severe cases, oligophrenia, ataxia, epileptic seizures are observed. Descriptions of individual variants of phakomatosis appeared at the end of the 19th century.

The morphological basis of phakomatoses are (Arkhipov B.A., Karpukhina L.O., 1996) hamartomas determined by impaired growth and differentiation of cells of one or more germ layers in the early stages of embryogenesis. From cells that seem to have been delayed in their differentiation and are in a state of "permanent embryonization", hamartromes are formed, which tend to proliferate and neoplastic transformation. In this regard, hamartoma is regarded as a tumor-like congenital malformation or an embryonic tumor with blastomatous tendencies (Kousseff B.G. et al., 1990). Hamartomas are more often of ectodermal origin and consist of elements of nervous tissue and skin. Hence the other name of phakomatoses - "neuroectodermal dysplasia". They can be combined with mesodermal and endodermal dysplasias.

The most common signs of neuroectodermal dysplasia are hyper- and hypopigmented macules, café-au-lait macules, fibromas, papillomas, nevi, neurofibromas, cortical and subependymal nodules in the CNS, phacomas, and mulberry lesions in the fundus. Among mesodermal dysplasias, angiomas, angiolipomas, aneurysms, ectasias and vascular stenoses, rhabdo- and leiomyomas, dys-

plasia of bone tissue, etc. An example of endodermal dysplasia can be polyposis of various parts of the digestive tract.

In the catalog of hereditary diseases V. McKusik (1967) 54 forms of phakomatosis are registered. Most of them are inherited in an autosomal dominant manner.

Neurofibromatosis or Recklinghausen's disease occurs more often than other phakomatoses (1:4000). In childhood (after 3 years) appear multiple pale, yellow-brown (coffee-colored) stains, with a diameter from millet grain up to 15 cm and more, mainly on the trunk and proximal parts of the limbs; often there is generalized dot pigmentation or freckling in the axillary areas. Somewhat later, signs of neurofibromatosis appear: multiple dense tumors of various sizes (usually 1-2 cm in diameter), located along the nerve trunks (neurinomas, neurofibromas), not fused with other tissues.

Tumors can also occur along the course of the cranial nerves (neurinomas of the auditory, trigeminal, glossopharyngeal nerves). Often, tumors grow from the tissue of the spinal roots and are located in the spinal canal, causing compression of the spinal cord. Tumors can also be localized in the orbital region, in the retrosternal, retroperitoneal spaces, in internal organs, causing a variety of corresponding symptoms. Scoliosis often develops, hypertrophy of skin areas, hypertrophy of internal organs is possible. The disease is based on anomalies in the development of the ecto- and mesoderm. Possible astrocytic hamartoma. It is inherited in an autosomal dominant manner. Allocate 2 shapes neurofibromatosis: classical, peripheral form (neurofibromatosis-1), in which the abnormal gene is located on chromosome 17, and central form (neurofibromatosis-2), the pathological gene is located on chromosome 22. The disease was described in 1882 by the German pathologist F.D. Recklinghausen (1833-1910).

According to the materials of the Institute of Neurosurgery. N.N. Burdenko RAMS with neurofibromatosis-1, along with peripheral neuromas and neurofibromas, possible microcephaly, pigmented iris hamartomas (Lish nodules), optic nerve gliomas (occur in 5-10% of patients), bone anomalies, in particular, dysplasia of the wings of the sphenoid bone, leading to a defect in the roof of the orbit and to pulsating exophthalmos, unilateral neuromas of the auditory (vestibulocochlear) nerve, intracranial tumors - meningiomas, astrocytomas, intravertebral neurofibromas, meningiomas, malignant tumors - ganglioblastoma, sarcoma, leukemia, clinical manifestations syringomyelia.

In cases neurofibromatosis-2 neurinoma of the vestibulocochlear cranial nerve often develops, which in this disease is often bilateral, meningioma, glial tumors, and spinal neurinomas are possible. Opacification of the lens, subcapsular lenticular cataracts are also possible.

(Kozlov A.V., 2004).

Tuberous sclerosis (Bourneville-Pringle disease, Bourneville-Bressau syndrome) - gliosis of the white matter of the brain, manifested in early childhood by epileptic seizures (in 85%), oligophrenia in combination with increasing pyramidal and extrapyramidal symptoms, skin pathology. At the age of 4-6 years, multiple yellow-pink or brown-red nodules with a diameter of just over 1 mm usually appear on the face in the shape of a butterfly in the nose area - Pringle's adenomas which are usually recognized as adenomas

sebaceous glands, however, there is an opinion that they are a hamartroma originating from the nerve elements of the skin.

At the same time, changes in type are possible on the nose. telangiectasia. Often found plots so-called pebbled skin, coffee-colored spots, areas of depigmentation, polyps, areas of fibrous hyperplasia, possible hamartomas of the tongue, fibrous plaques on the skin of the forehead, scalp and rounded fibromas (Cohen's tumors) on the toes, less often on the hands. Often noted dysplastic features, congenital malformations, tumors of the retina and internal organs (in the heart, kidneys, thyroid and thymus glands, etc.).

On the fundus are possible gelatinous formations of a dirty yellowish color, resembling a mulberry in shape, - glioneuromas of the astrocytic hamartroma type, retinal phakomatosis. Sometimes there are signs of stagnation or atrophy of the optic discs.

On the surface of the brain, there are single or multiple gliomatous nodes, somewhat lighter in color than the surrounding brain and denser to the touch, their calcification is possible. The nodes can also be in the white matter, subcortical ganglia, as well as in the brain stem and cerebellum.

There are also anomalies in the development of the convolutions of the brain in the form of micro- and pachygyria. The disease is often sporadic. Plaques reach a diameter of 5-20 mm. In the cerebral cortex and cerebellum, lamellar bodies resembling amyloid can sometimes be found. going on degeneration of cortical cells. CT examination of the head can often reveal calcifications and glial nodules in the paraventricular region, subependymally along the outer walls of the lateral ventricles, in the area of ​​the interventricular foramen of Monro, less often in the brain parenchyma. MRI of the brain reveals hypotension foci in one or both occipital lobes in 60%, which are regarded as areas of improper myelination (Kozlov A.V., 2002).

It is recognized that the disease is inherited in an autosomal dominant manner with incomplete penetrance of the mutant gene. It was described in 1862 by the French doctor D.M. Bourneville (1840-1909) and in 1880 the English physician J.J. Pringle

(1855-1922).

Encephalotrigeminal angiomatosis of Sturge-Weber (cutaneous and cerebral angiomatosis; Sturge (Sturge)-Weber syndrome; Weber-Crabbe-Osle syndrome

ra- congenital malformation of mesodermal (angiomas) and ectodermal elements, which arose in the process of embryogenesis under the influence of exogenous and genetically determined causes. characteristic triad: "fiery" nevus, epilepsy, glaucoma. A congenital large vascular spot (nevus) is usually localized on one side of the face along the branches of the trigeminal nerve. Large flat angiomas of red or cherry color on the face, turning pale when pressed, can spread to the skin of the scalp and neck, usually accompanied by angiomatosis of the meninges, more often in the convexital zone of the parieto-occipital region, brain atrophy and foci of calcification in the cerebral cortex . Oligophrenia, hemiparesis, growth retardation of paretic extremities, hemianopsia, hydrophthalmos are possible. On craniograms and computed tomograms, foci of calcification, brain atrophy, and expansion of subarachnoid spaces are noted.

The disease is often sporadic. Cases of inheritance are possible both by dominant and by autosomal recessive type. On CT and MRI, manifestations of atrophy of the brain substance are usually observed,

ventricles of the brain and subshell spaces. The disease was described in 1879 by the English doctors W.H. Sturge (1850-1919) and H.D. Weber (1823-1918).

Ataxia-telangiectasia (Louis Bar disease) characterized by symmetrical telangiectasias that appear at the age of 3-6 years, especially on the conjunctiva, skin of the face and neck, usually spreading to the meninges, the substance of the brain. In addition, it is noted increased susceptibility to chronic inflammatory diseases (sinusitis, pneumonia, bronchiectasis, etc.) due to a genetically determined violation of cellular and humoral immunity. At the first attempts of the child to walk independently, signs of cerebellar ataxia, which later has an increasing character, later appear hyperkinesis by the type of myoclonus or athetosis, tendon hyporeflexia, dysarthria. Possible damage to the cranial nerves, difficulty in voluntary eye movements (oculomotor apraxia). By the age of 12-15, there are violations of deep and vibrational sensitivity, an increase in ataxia. In the later stages of the disease, due to damage to the cells of the anterior horns of the spinal cord, muscle weakness and atrophy, fascicular twitches occur. appear on the skin dark spots coffee color, areas of hypopigmentation, seborrheic dermatitis. Gradually skin atrophy develops, the appearance of gray hair is noted already at school age. Characterized by a delay in mental and physical development, cerebellar hypoplasia, more pronounced in its worm, thymus hypoplasia, dysgammaglobulinemia, damage to the reticuloendothelial system (reticulosis, lymphosarcoma, etc.) are common. The prognosis is bad. The cause of death is more often chronic diseases of the bronchi and lungs, lymphomas, carcinomas.

It is inherited in an autosomal recessive manner with high penetrance of the mutant gene. The disease was described in 1941 by the French doctor D. Louis-Bar.

Cerebroretinovisceral angiomatosis (hemangioblastomatosis, Hippel-Lindau disease) - hereditary familial angiomatosis of the central nervous system and retina. It is characterized by congenital underdevelopment of capillaries, compensatory expansion of larger vessels and the formation of vascular glomeruli, angiomas, angiogliomas. Neurological symptoms may vary due to possible defeat cerebral hemispheres, brain stem, cerebellum, less often - spinal cord.

The triad is characteristic: angioma of the retina, angioma of the brain, polycystic viscera or angioreticulum of the kidneys. On the fundus are marked a sharp expansion and tortuosity of the vessels, yellowish vascular glomeruli in the retina, later - exudate and hemorrhages in the retina, its detachment. Often seen clouding of the vitreous body, glaucoma, iridocyclitis. The result is blindness over time. Hippel-Lindau disease usually manifests itself in patients aged 18-50 years.

The first symptoms are signs of angioreticulum of the cerebellum or retina. With the predominance of clinical manifestations of cerebellar angiomatosis, the disease is known as Lindau's tumor. Retinal angiomatosis usually regarded as Hippel's tumor. Damage to internal organs is possible, which are characterized by developmental anomalies and the formation of tumors: polycystic kidney disease, pheochromocytoma, hypernephroma, cystic tumors of the pancreas, liver. It is inherited in an autosomal dominant manner with incomplete penetrance. The disease was described in 1904 by the German ophthalmologist E. Hippel, and in 1925 by the Swedish pathologist A. Lindau (born in 1898).

24.18. ANOMALIES AND DESTRUCTIONS AT THE CRANIOVERTEBRAL LEVEL

Craniovertebral anomalies are often found in the transition zone of the skull to the spine. They can cause a violation of blood circulation in the vertebral arteries, a disorder of liquor circulation. As a result of the manifestation of a variety of neurological disorders, including vestibular, cerebellar symptoms, signs of intracranial hypertension, elements of the bulbar syndrome, in particular, dysfunction of the cranial nerves of the bulbar group, radicular symptoms at the upper cervical level, signs of pyramidal insufficiency, sensory disturbances in the conduction type, as well as radicular symptoms at the upper cervical level. Various bone anomalies, manifestations of dysraphic status can be detected: basilar depression, protrusion of the apex of the odontoid process above the Chamberlain and de la Petit lines, assimilation of the atlas (Ollenek's syndrome), the phenomenon of the proatlas, etc. Craniovertebral anomalies are characterized by a short neck, a low border of hair growth on the neck , cervical hyperlordosis; possible facial asymmetry, hypoplasia of the lower jaw, gothic palate, expansion of the spinal canal at the level of the upper cervical vertebrae, kyphoscoliosis of the spine, splitting of the vertebral arches, deformity of the feet according to the “Friedreich foot” type.

Congenital anomalies of development at the craniovertebral level are characterized by defects in the development of the occipital bone and structures located in the posterior cranial fossa and the upper spine and spinal cord. These include Dandy-Walker syndromes and Chiari syndrome.

Dandy Walker Syndrome is a congenital malformation of the caudal brainstem and cerebellar vermis, leading to incomplete opening of the median (Magendie) and lateral (Lushka) apertures of the IV ventricle of the brain. It is manifested by signs of hydrocephalus, and often hydromyelia. The latter circumstance, in accordance with the hydrodynamic theory of Gardner, can cause the development of syringomyelia, syringobulbia. Dandy-Walker syndrome is characterized by manifestations of functional insufficiency of the medulla oblongata and cerebellum, symptoms of hydrocephalus, intracranial hypertension. The diagnosis is clarified with the help of methods that visualize the brain tissue - CT and MRI studies. Signs of hydrocephalus are revealed, in particular, a pronounced expansion of the fourth ventricle of the brain; an MRI study can reveal deformation of these brain structures. The syndrome was described in 1921 by American neurosurgeons W. Dandy (1886-1946) and A. Walker (born in 1907).

Chiari Syndrome(Arnold-Chiari-Solovtsev syndrome, or cerebellomedullary malformation syndrome) - a malformation of the subtentorial structures of the rhomboid brain, manifested by the descent of the brain stem and tonsils of the cerebellum into the foramen magnum. It is often combined with anomalies of the bones of the skull base and upper cervical vertebrae (platybasia, basilar impression, atlas assimilation, Klippel-Feil syndrome), with manifestations of dysraphic status, in particular with syringomyelia, syringobulbia. With Chiari syndrome, infringement of the medulla oblongata, structures of the cerebellum, upper cervical segments of the spinal cord, occlusion of the cerebrospinal fluid can occur, which leads to bulbar, cerebellar and conduction symptoms, to occlusive hydrocephalus. The syndrome has been described

1894 German pathologist J. Arnold (1835-1915) and in 1895 Austrian pathologist H. Chiari (1851-1916).

Currently, based on the results of MRI scanning, some authors distinguish two variants of Chiari syndrome.

Type I malformation (Chiari I) characterized by displacement of the cerebellar tonsils to the level of the foramen magnum. Possible descent of the medulla oblongata, its lengthening and anterior compression of the medulla oblongata by the odontoid process, narrowing of the IV ventricle of the brain and the large occipital cistern, liquorodynamic disorders, signs of underdevelopment and atypical structure of the arteries of the vertebrobasilar basin. In the neurological status, oculomotor, cochlear and vestibulo-cerebellar, bulbar, as well as conduction motor and segmental motor and sensory disorders are possible. The absence of neurological symptoms, however, they may appear later (sometimes in the 3rd-4th decade of life, which indicates the transition of the process to a type II malformation.

At type II malformations (Chiari II) there is a protrusion into the foramen magnum of the tonsils and the cerebellar vermis, structures of the medulla oblongata, which takes an S-shape. Characterized by spastic tetraparesis, pain in the occipital region and neck, cerebellar ataxia, vertical "beating" down nystagmus, elements of the bulbar syndrome, signs of syringomyelia, manifestations of hydrocephalus, and conduction disorders.

Neurological symptoms in Arnold-Chiari syndrome can appear from the age of 5-7, sometimes later, perhaps at the age of 30-40, and have a progressive course. Manifestations of the Arnold-Chiari anomaly are often combined with a craniovertebral bone anomaly (basilar impression, atlas assimilation, scaphocrania craniostenosis, etc.). In diagnosing Chiari syndrome and determining its type, information obtained from MRI of the brain and craniovertebral region, as well as from transcranial Dopplerography is usually especially valuable (Krupina N.E., 2003).

Babchin's symptom- atrophy of the posterior semiring of the foramen magnum and the internal crest of the occipital bone. It is detected during craniography performed in the posterior semi-axial projection. The symptom was described by the domestic neurosurgeon I.S. Babchin with tumors of craniovertebral localization.

24.19. SOME CONGENITAL OR EARLY MANIFESTING FORMS OF MOTOR SPHERE DAMAGE

24.19.1. Cerebral palsy

Cerebral palsy (CP) is a heterogeneous group of syndromes that are the result of brain damage that occurred in the prenatal, intranatal (during childbirth) and early postnatal periods. A characteristic feature of cerebral palsy is a violation of the motor development of the child, due primarily to an abnormal distribution muscle tone and impaired coordination of movements (paresis, paralysis, ataxia, hyperkinesis). Marked

movement disorders can be combined with epileptic seizures, delayed speech development, emotional and intellectual development. Sometimes movement disorders are accompanied by a change in sensitivity.

An important feature of cerebral palsy is the lack of progression and a possible, albeit mild, tendency to restore the existing signs of the pathology of the nervous system.

The frequency of cerebral palsy, according to various sources, is 2.5-5.9 per 1000 newborns. According to the Moscow Children's Consultative Neurological Clinic, in 1977-1978. it amounted to 3.3 per 1000 child population. The frequency of cerebral palsy in the group of children born weighing less than 1500 g is 5-15% (Aziz K. et al., 1994). According to K.A. Semenova (1994), cerebral palsy is the cause of 24% of cases of childhood neurological disability.

Etiology. The etiological factors are diverse: diseases (rubella, cytomegaly, influenza, toxoplasmosis, etc.) and toxicosis in the mother during pregnancy, anomalies labor activity, obstetric operations and traumatic lesions, cerebral hemorrhages, asphyxia during childbirth, incompatibility of blood between mother and fetus, injuries and illnesses (meningitis, encephalitis) in a child in the early postpartum period. A combination of several harmful factors is possible.

The causes of congenital cerebral palsy may be genetically determined anomalies in the formation of the brain (brain dysgenesis) that occur at different stages of its development. They are the cause of 10-11% of all cases of spastic forms of cerebral palsy. In addition, the cause of cerebral palsy may be cerebrovascular disorders in the fetus or newborn child, in particular hypoxic-ischemic encephalopathy, ischemic and hemorrhagic strokes, intracranial hematomas.

Pathogenesis. Pathogenic factors acting during embryogenesis cause anomalies in the development of the brain. At later stages of intrauterine development, it is possible to slow down the processes of myelination of the nervous system, impaired differentiation of nerve cells, pathology of the formation of interneuronal connections and the vascular system of the brain. With the incompatibility of the blood of the mother and fetus according to the Rh factor, the AB0 system and other erythrocyte antigens, antibodies are produced in the mother's body that cause hemolysis of the fetal erythrocytes. Indirect bilirubin, formed during hemolysis, has a toxic effect on the nervous system, in particular on the structures of the striopallidar system.

In fetuses that have undergone intrauterine hypoxia, by the time of birth, protective and adaptive mechanisms are insufficiently formed, asphyxia and traumatic brain injury during childbirth can be significant. In the pathogenesis of lesions of the nervous system that develop during childbirth and postnatally, the main role is played by fetal hypoxia, acidosis, hypoglycemia and others. metabolic disorders leading to cerebral edema and secondary disorders of cerebral hemodynamics and liquorodynamics. Significant importance in the pathogenesis of cerebral palsy is attached to immunopathological processes: brain antigens formed during the destruction of the nervous system under the influence of infections, intoxications, mechanical damage to the brain tissue can lead to the appearance of appropriate antibodies in the mother's blood, which negatively affects the development of the fetal brain.

pathological picture. Pathological changes in the nervous system in cerebral palsy are diverse. 30% of children have developmental anomalies

of the brain - microgyria, pachygyria, heterotopia, underdevelopment of the hemispheres, etc. Possible dystrophic changes in the brain, gliomatosis, scars, porencephaly or cystic cavities in the brain, areas of demyelination of the pathways or atrophy of the cerebral cortex due to traumatic injury, cerebral hemorrhage, intracranial hematoma , hypoxia that arose during the birth act or toxic, infectious-allergic, traumatic brain damage in the prenatal or early postnatal periods.

Classification. Various clinical classifications of cerebral palsy have been proposed. We give one of the classifications that have received wide recognition.

Table 24.1.Syndromes (forms) of cerebral palsy (Miller G., 1998)

Spastic forms are predominant, the rest are much less common.

Clinical manifestations. The resulting defect in the brain not only negatively affects the condition of the newborn child, but also interferes with its normal development, primarily the development of the motor system, speech and cognitive functions. The clinical picture in such cases can vary widely. It is important to remember that pathological postural activity, manifestations of an increase in muscle tone often become distinct only by 3-4 months of a child's life, and sometimes even later. For relatively early diagnosis Cerebral palsy is important dynamic monitoring of children, especially those with poor obstetric history, while taking into account the dynamics of congenital unconditioned reflexes, the sequence of the nature of changes in muscle tone, the formation of reactions of straightening and balance.

According to the predominance of certain neurological and mental functions, L.O. Badalyan (1984) identified the following variants of cerebral palsy.

1. Spastic diplegia (Little's syndrome) is the most common form of cerebral palsy. It is characterized by tetraparesis involving the muscles of the face, tongue, and pharynx, with especially pronounced motor disorders in the lower extremities (manifestations of lower spastic paraparesis with a predominance of tension in the adductor muscles of the thighs and the extensor muscles of the lower leg and flexors of the feet. If the child lies, his legs are extended , when trying to put it on the floor), his legs cross, he does not rely on the entire foot, but only on its front part. The legs are straightened and rotated inward. When trying to walk with outside help, the child makes dancing movements, his legs “cross”, the body turns towards the leading leg. Often, the severity of paresis is asymmetric, while the difference in the possibility of active movements is especially pronounced in the hands.

Against the background of diplegia, there may be choreoathetoid hyperkinesis, which primarily involves facial muscles and muscles of the distal arms. Children are very worried about the presence of motor disorders, reluctantly

come into contact with healthy children, feel better in a team consisting of children with similar diseases.

2. double hemiplegia - bilateral hemiplegia or, more commonly, hemiparesis, in which the arms are affected to a greater extent than the legs, or they are affected approximately equally. Asymmetry in the severity of paresis is possible, while muscle tone is high, there is a combination of spasticity and rigidity, usually with a predominance of the latter. Equilibrium reactions are underdeveloped. Almost always, elements of pseudobulbar paralysis are expressed, and therefore chewing and swallowing, speech are difficult. Often there are convulsive paroxysms, microcephaly. This form of cerebral palsy is usually accompanied by the most significant manifestations of oligophrenia.

3. Spastic hemiplegia characterized by corresponding motor impairments mainly on one side. Often, movement disorders are more pronounced in the hand, it is bent at all joints, the hand in young children is clenched into a fist, at a later age it has the shape of an “obstetrician’s hand”. Often there are focal epileptic seizures of the Jackson type. With the help of imaging research methods (CT, MRI) in one of the hemispheres of the brain, a cyst, cicatricial processes, or manifestations of porencephaly are usually detected. The development of intelligence may be close to normal.

4. Hyperkinetic form characterized by a predominant lesion of the structures of the striopallidar system. Muscle tone is variable, often fluctuating between hypotension and normotonia. Against this background, there are intermittent muscle spasms, attacks of increased muscle tone according to the plastic type. Active movements in such cases are awkward, accompanied by excessive motor reactions of a predominantly athetoid nature, while hyperkinesis can be predominantly in the distal or proximal parts of the extremities, neck muscles, and mimic muscles. Hyperkinesis is possible by the type of athetosis, choreoathetosis, chorea, torsion dystonia. Speech disorders (subcortical dysarthria) are often observed. Mental development suffers less than in other forms of cerebral palsy. This form of cerebral palsy is usually due to the immune incompatibility of the blood of the fetus and mother.

5. Cerebellar form characterized by ataxia, due mainly to damage to the cerebellum and its connections. It can be combined with nystagmus, atonic-astatic syndrome, signs of moderate spastic paresis due to the involvement of the cortical-subcortical structures of the brain in the process.

Treatment. Treatment, more precisely, habilitation of 1 patient with cerebral palsy should be started as early as possible, and it should be comprehensive. At an early age, the child's brain is plastic and has significant compensatory capabilities. Habilitation, started during the formation of static and locomotor functions, gives the most significant results. Early training in sensorimotor skills with their conditioned reflex consolidation contributes to the timely development of motor skills. In addition, at an early age, spastic phenomena are still not pronounced, there are no stereotypical pathological postures, deformations, contractures, as a result of which motor skills are easier to develop.

1 Habilitation - creating opportunities for the development of previously absent activities.

An important part of the complex treatment of cerebral palsy are orthopedic measures, prevention of contractures. Longuets, splints, splints, rollers, collars, etc. are widely used to give a physiological position to individual parts of the body. Orthopedic styling alternates with therapeutic exercises, massage, physiotherapy, while therapeutic measures should contribute to the inhibition of pathological tonic reflex activity, normalization on this basis muscle tone, facilitation of voluntary movements, development of consistent age-related motor skills of the child.

Of the drugs in the treatment of cerebral palsy, pharmacological preparations are used that improve metabolic processes in the brain - glutamic acid, lipocerebrin, cerebrolysin, drugs from the group of nootropics, B vitamins, acephen, etc. Muscle relaxants are used according to indications, while Botox may be the drug of choice ( botulinum toxin). There is a positive experience (Belousova E.D., Temin P.A. et al., 1999) of its introduction into the biceps muscle of the shoulder, as well as into the flexors and extensors of the hand to reduce muscle tone and the pronator setting of the forearm; positive effect gave the use of Botox by the same authors to eliminate dynamic contracture in the ankle joint. Drugs are also used, the action of which is aimed at suppressing hyperkinesis, anticonvulsants, angioprotectors, antiplatelet agents and sedatives.

In recent years, methods of somatosensory stimulation have been developed. For this, it is proposed, in particular, to wear the Penguin space suit or its modification Adele. The use of a load suit helps to correct the position of the center of gravity of the patient's body and normalize the standing posture. It is assumed (Yavorsky A.B. et al., 1998) that with such treatment, restructuring of nerve connections in the hemispheres of the brain and a change in interhemispheric relationships can occur.

24.19.2. Strumpell's spastic familial paraplegia

Chronic progressive family disease was described in detail in 1886 by the German physician A. Stumpell (Stumpell A., 1853-1925). Currently, it is regarded as a group of diseases characterized by genetic heterogeneity and clinical polymorphism. The disease is inherited both in an autosomal recessive and dominant manner.

Pathogenesis not studied.

pathological picture. Symmetric degeneration is noted in the cerebro-spinal pathways, gradually progressing and spreading from bottom to top. Sometimes it is accompanied by degenerative changes in the gentle bundle of Gaulle and the spinal tracts. Possible demyelination of nerve fibers in the legs of the brain, gliosis and a decrease in the number of cells in the extrapyramidal structures of the trunk.

Clinical manifestations . Usually, in the second decade of life, fatigue of the legs appears, an increase in muscle tone and tendon reflexes in them. Later, foot clonuses, foot pathological signs occur. Over time, the signs of lower spastic paraparesis increase, while the spastic state of the muscles prevails over the severity of the muscular

weaknesses. For many years, patients retain the ability to move independently. Their gait is spastic paraparetic. Due to the severity of the tension of the adductor muscles of the thighs, patients sometimes cross their legs when walking. In the advanced stage of the disease, protective reflexes, signs of spinal automatism, contractures of the ankle joints are possible. Elements of spasticity may, as the disease develops, manifest itself in the hands, in the muscles of the shoulder girdle. There may be a decrease in vibration sensitivity in the legs. Other types of sensitivity, tissue trophism and the function of the pelvic organs are usually not affected. Possible foot deformity (Friedreich's foot), mild cerebellar insufficiency, myocardiopathy, cognitive decline.

Treatment. Pathogenetic therapy has not been developed. Muscle relaxants (mydocalm, scutamil, baclofen, etc.) are widely used as symptomatic agents.

24.20. ANOMALIES AND SECONDARY DEFORMATIONS OF THE SPINE

Craniovertebral bone anomalies include Oljenik's symptom- occipitalization of the 1st cervical vertebra (atlas) - its fusion (assimilation, concretion) with the occipital bone. This symptom may be accompanied by signs of craniovertebral pathology, vertebrobasilar vascular insufficiency, and impaired liquorodynamics. Spondylograms sometimes show proatlantic phenomenon - the presence of elements of an additional ("occipital") vertebra in the form of vestiges of the anterior arch, body, lateral section or posterior arch. More often they are in a state of fusion with the occipital bone, the atlas, the apex of the odontoid process of the II cervical (axial) vertebra, however, they can also be preserved in the form of free bones located in the ligamentous apparatus between the occipital bone and the atlas.

A manifestation of a congenital bone defect is Kimerli anomaly. Furrow vertebral artery on the back side of the lateral mass of the atlas, it turns out to be transformed into a partially or completely closed canal due to the formation of a bone bridge over it. This can cause compression of the vertebral artery passing through this canal and the development of vertebrobasilar vascular insufficiency, which sometimes manifests itself from a young age. Described pathology in 1930 by M. Kimerly.

Subluxation and wedging of the atlantoaxial joint, or cruvelle joint, due to the defectiveness of its formation and the frequent introduction of free fragments of the proatlas into it, which leads to the development of signs of deforming arthrosis in this joint. Possible manifestation of Down's disease, Morquio's disease, rheumatoid arthritis, neck injury. The weakness of the ligamentous apparatus of the neck, hypoplasia of the odontoid process, as well as the presence of the so-called articular gap between the odontoid process and the body of the second cervical vertebra predispose to the development of subluxation of the atlantoaxial joint. Patients usually note pain in the neck and limited mobility of the head, when it turns, soreness and crunching. Neurological disorders occur as a result of instability in the atlanto-axial joint and are often provoked by a mild neck injury, with the atlas moving forward and compression of the upper cervical spinal cord.

In cases of damage to the two upper cervical vertebrae with tuberculosis infection (Rust's disease), syphilis, rheumatism, metastases cancerous tumor spondylograms show changes corresponding to the etiological factor in the upper cervical vertebrae, and sometimes in the occipital bone (see Chapter 29).

Grisel's disease (Grisel's torticollis) - spondyloarthritis of the upper cervical region. It occurs more often in children against the background of infectious diseases, sometimes it is a complication of sinusitis. The articulation between the atlas and the tooth of the axial vertebra is characteristically affected. It is manifested by sharp pain and soreness in the upper cervical region, as well as analgesic contracture of the muscles attached to the atlas. Persistent spastic torticollis is characteristic, in which the head is tilted towards the lesion and slightly rotated in the opposite direction (see Chapter 29).

Axial vertebra syndrome is a consequence anomalies in the development of the odontoid process of the axial vertebra, serves as the basis for the formation of the syndrome of the odontoid process, which is not fused with its body and is represented by an independent odontoid bone (os odontoideum) . This bone is freely displaced when the head is tilted, thus narrowing the spinal canal, which can lead to the development of compression myelopathy at the upper cervical level; in this case, conduction symptoms and respiratory disorders may occur, as well as the appearance of signs of deforming arthrosis, mainly in the lateral atlanto-axial joints with an increase in their articular surfaces due to bone growths with a gradual migration of the joints forward and downward, i.e. with the formation of craniovertebral spondylolisthesis. There may also be manifestations of vascular vertebrobasilar insufficiency.

Klippel-Feil syndrome (short neck syndrome) is a congenital anomaly and fusion of the cervical vertebrae, often combined with Oljenik's syndrome. Possible incomplete differentiation of the cervical vertebrae and a decrease in their number, sometimes their number does not exceed four. The clinical picture is characterized triad: short neck ("man without a neck", "frog neck"), low border of hair growth on the neck, a significant limitation of the mobility of the head. In severe cases, the chin rests on the sternum, the earlobes touch the shoulder girdle, sometimes skin folds go from the auricles to the shoulders. It can be combined with hydrocephalus, elements of the bulbar syndrome, vertebrobasilar vascular insufficiency, conduction disorders, high standing of the shoulder blades, manifestations of dysraphic status. According to X-ray studies, there are two extreme forms of the Klippel-Feil syndrome: 1) the atlas is fused with other cervical vertebrae, the total number of which is therefore reduced, usually no more than 4; 2) signs of Oljenik's syndrome and synostosis of the cervical vertebrae, the height of their bodies is reduced. Often combined with platybasia, other malformations are possible. The syndrome was described in 1912 by French neuropathologists M. Klippel (1858-1942) and A. Feil (born in 1884).

Muscular congenital torticollis - shortening of the sternocleidomastoid muscle due to its focal fibrosis, as a result of which the head is tilted to the affected side. The cause of the resulting syndrome of replacement of a portion of the muscle with connective tissue is unknown.

Vertebral concretion - fusion of neighboring vertebrae due to an anomaly in their development or due to tuberculous spondylitis, Bechterew's disease, post-traumatic spondylosis and other pathological processes.

Platyspondylia- expansion and decrease in the height of the vertebral bodies due to the development of degenerative or necrotic processes in them.

Generalized platyspondylia (Dreyfus syndrome) - enchondral dysostosis, usually manifested in the second year of a child's life (when he begins to walk) with back pain and weakness of the ligamentous apparatus fixing the spine, followed by the development of kyphosis or kyphoscoliosis. Characterized by a short neck and torso with relatively long limbs, malnutrition and excessive muscle extensibility, loose joints. The spondylogram shows multiple platyspondylia, while the height of the vertebral bodies can be reduced by 2-3 times, the expansion of spaces between the vertebral bodies, reduced sizes of the pelvic and sacral bones, congenital dislocation of the hip or hips are possible. The syndrome was described in 1938 by the French doctor J.R. Dreyfus.

Osteopathy of the vertebral body usually presenting in children 4-9 years of age, known as flat vertebral syndrome (Calve's disease). Spondylograms show osteoporosis of the central part of the vertebral body, compaction of the endplates, followed by its progressive flattening (platyspondylia) up to 25-30% of its initial height. A flattened vertebra is separated from the neighboring ones by widened intervertebral discs (see Chapter 29).

Pathological lordosis and kyphosis of the spine. The spinal column normally has physiological curves. Forward bend (lordosis) usually occurs at the cervical and lumbar levels, backward bend (kyphosis) - at the thoracic level. Excessive severity of lordosis leads to an increase in the load on the posterior sections of the intervertebral discs, as well as on the intervertebral joints, in which dystrophic phenomena can develop in such cases. With cervicalgia or lumbalgia at the appropriate level, flattening of the lordosis is noted, and sometimes its transformation into kyphosis. With myopathies, there is usually an increase in the severity of lumbar lordosis.

Pathological kyphosis is characteristic of tuberculous spondylitis, it can occur with cervicalgia or lumbalgia in patients with osteochondrosis of the spine, is pronounced with juvenile kyphosis, Lindemann's syndrome, Scheuermann's syndrome (see chapter 29).

If lordosis and kyphosis can be physiological, then scoliosis- persistent bending of the spine to the side is always a sign of deviation from the norm. stand out 3 degrees of scoliosis: I - is detected only with functional tests, in particular with torso tilts in the sagittal and frontal planes; II - is determined when examining a standing patient, disappears when pulling up on straightened arms, on parallel bars or on the backs of two chairs, as well as in the prone position; III - persistent scoliosis that does not disappear when pulling up on the gymnastic wall, etc. and in the supine position. X-ray detectable expansion of the cracks between the vertebral bodies on the convex side of the curvature of the spine in scoliosis is often referred to as Kohn's sign - named after the domestic orthopedist I.I. Kohn (born in 1914), who described this symptom as a manifestation of progressive scoliosis. The combination of kyphosis and scoliosis is called kyphoscoliosis.

Rigid spine syndrome - myopathic syndrome, combined with fibrosis and shortening of the axial muscles, especially the extensors of the spine, in this case, the flexion of the head and trunk is disturbed, scoliosis is common

thoracic spine with contractures of the proximal joints of the extremities. EMG shows signs of damage to the cells of the anterior horns of the spinal cord and muscles. Characterized by muscle weakness, myohypotrophy, signs of cardiomyopathy and changes in the activity of creatine phosphokinase. It is inherited in an autosomal recessive or X-linked recessive manner. Described in 1865 by the English doctor V. Dubowitz, and under the name "congenital arthrogryposis of the spine" in 1972 - domestic neuropathologist F.E. Gorbachev.

Spinal deformities may occur during involution. Such changes in the shape of the spine are observed, in particular, with forestier syndrome, manifested in persons 60-80 years of age, while it is characteristic round old back.

With excessive lumbar lordosis, due to the pressure of the spinous processes on each other, their deformation is possible (Bostrup's syndrome, "kissing" spinous process). Manifested by pain in the lumbar region when the spine is extended. Spondylograms reveal false joints between the flattened spinous processes.

The flattening of the vertebral body and the sharpening of its anterior part are one of the manifestations of osteochondrodystrophy, known as Morquio-Brailsford deformity.

See also Chapter 29 for the last three clinical phenomena.

24.21. DYSRAPHIS OF THE SPINE AND SPINAL CORD, SPINAL HERNIAS

spinal dysraphia is a malformation associated with incomplete closure of tissues of mesodermal and ectodermal origin along the median suture (from the Greek rhaphe - suture) - the midline of the spine. The manifestations of spinal dysraphia are the splitting of the arches of the vertebrae (spina bifida) and sagittally located soft tissues, as well as the resulting various variants of spinal hernias, sometimes dermoid cysts, lipomas, and the “hard” terminal filament syndrome.

Dysraphia of the spine and spinal cord depending on the degree of their underdevelopment, it has the following options: 1) spina bifida occulta; 2) spina bifida complicata; 3) spina bifida anterior; 4) spinal hernias: meningocele, meningoradiculocele, myelomeningocele, myelocystocele; 5) rachischisis partial and complete.

Hidden spina bifida - spina bifida occulta (from lat. spina- awn, bifidus - divided in two). The most common form of spinal anomaly is vertebral arch splitting (spina bifida occulta). 1-2 vertebrae can be unclosed, but sometimes more of them. The ends of open arches are often pressed into the lumen of the spinal canal and cause compression of the dura mater, subdural space, and cauda equina roots, while the bone defect is covered by intact soft tissues. This form of anomaly is detected during spondylography, more often at the lower lumbar - upper sacral levels. In the zone of splitting of the arch or several arches of the vertebrae, retraction and atrophy of the skin or tissue swelling, scars, pigmentation are sometimes noted, hypertrichosis is possible -

Faun sign. Availability spina bifida occulta may predispose to the development of pain syndrome, sometimes - lermitte syndrome, accompanied by a sensation like the passage of an electric current along the spine when tapping on the spinous process of an abnormal or damaged vertebra.

Complete rachischisis - severe dysraphia, manifested by splitting not only of the arches and vertebral bodies, but also of the soft tissues adjacent to them. Through a fissure in soft tissues immediately after the baby is born, the spinal cord may be visible. There is no hernial protrusion of tissues. The vertebral bodies in the ventral part of the fissure may fuse. Malformations of other vertebrae and ribs are also possible. There are partial, subtotal and total forms of dysraphia.

Spina bifida anterior- cleft of the vertebral bodies. It is rare and mostly an incidental finding on spondylograms, but it can be combined with other developmental defects.

Spina bifida complicata- non-closure of the vertebral arches in combination with tumor-like growths, which are just adipose or fibrous tissue located under the skin and filling the bone defects of the vertebral arches, growing together with the meninges, roots and spinal cord. It is localized more often at the lumbosacral level of the spinal column.

spinal hernias, arising in connection with the non-closure of the vertebral arches and the splitting of soft tissues, are congenital hernial protrusions of the contents of the spinal canal (Fig. 24.8): meningocele - hernial protrusion from the meninges, filled with CSF; meningoradiculocele - hernia, consisting of the meninges, spinal roots and CSF; myeloradiculomeningocele - hernia, including structures of the spinal cord, spinal roots, meninges and CSF; myelocystocele - a hernial sac containing a section of the spinal cord with signs of hydromyelia.

Diagnostics. With spinal hernias, diagnosis is not difficult. The nature of the contents of the hernial sac can be judged on the basis

Rice. 24.8.A child with spinal hernia (myelomeningocele) and associated hydrocephalus.

new study of neurological status. Clarification of the diagnosis can be achieved with the help of spondylography and MRI studies, while it must be borne in mind that ossification of the sacrum occurs only by about 12 years of age.

Treatment of spinal hernias. Only surgical treatment is possible. With a rapid increase, thinning and ulceration of the integumentary tissues of the hernial protrusion, threatening its rupture, as well as the presence of a cerebrospinal fluid fistula, an urgent operation is indicated. Otherwise, the development of meningitis, meningomyelitis, meningomyeloencephalitis is possible. A contraindication to surgery may be inflammation of the tissues of the spinal canal, severe neurological disorders. The question of the operation should be decided jointly by the pediatrician, neuropathologist and neurosurgeon.

Hernial protrusion is allocated from soft tissues, its wall is opened. If the roots and tissue of the spinal cord itself protrude into the hernia cavity, then, if possible, with maximum care, they are isolated from the adhesions and moved into the lumen of the spinal canal. After that, the hernial protrusion is excised and the soft tissues are successively sutured in layers. With large defects, sometimes the muscles and aponeurosis are moved from adjacent areas to fully close the defect and prevent re-protrusions. If the spinal cord enters the hernial sac, as a rule, only palliative surgery is possible.

In the treatment of spinal hernias, one should take into account the fact that they are often combined with hydrocephalus. In these cases, in addition to removing the hernial protrusion, a shunt operation is indicated - lumboperitoneostomy.

24.22. ANOMALIES OF THE SPINAL CORD

Diastematomyelia - division of the spinal cord along the length into two parts by a bone, cartilage or fibrous bridge. There are no obligate signs for this form of anomaly, since the existing symptoms are also possible with other malformations of the spine and spinal cord. However, diastematomyelia may be accompanied by skin manifestations, abnormalities in the state of the musculoskeletal system, and neurological disorders.

During an external examination of a patient with diastematomyelia along the axis of the spine in the zone of spinal cord splitting, areas of hypertrichosis, pigment spots of coffee or dark brown color, angiomas, as well as retracted areas of scarred skin can be seen.

Changes in the musculoskeletal system are possible already in early childhood. In particular, deformities of the feet are possible. Weakness of one or both legs, asymmetry of the muscles of the lower extremities, hypotrophy of individual muscles or muscle groups, weakness of the muscles of the legs and pelvic girdle. Scoliosis and other forms of spinal deformity are often detected in children from an early age.

Of the neurological symptoms, there may be asymmetry or absence of tendon reflexes, more often of the calcaneal (Achilles) or knee reflexes, decreased sensitivity, signs of impaired autonomic innervation.

Sometimes signs of lower paraparesis, which are significant in severity, are combined with a disorder in the functions of the pelvic organs, while there may be an imperative urge to urinate, bedwetting.

Amelia- complete absence of the spinal cord, while maintaining the dura mater and spinal ganglia. In place of the spinal cord, a thin fibrous cord is possible.

diplomacy- doubling of the spinal cord at the level of the cervical or lumbar enlargement, less often - doubling of the entire spinal cord.

March, 2007

A.V. Lopatin, S.A. Yasonov, Department of Maxillofacial Surgery, State Institution "Russian Children's clinical Hospital» Roszdrav

Almost any doctor in the course of general anatomy remembers the existence of specific forms of the skull, such as scaphocephalic (elongated in the anterior-posterior direction) and brachycephalic (increased in width). But rarely does anyone remember that the unusual shape of the skull in a child in many cases is a sign of premature fusion of the cranial sutures.

Of course, all doctors are familiar with the term craniostenosis - premature fusion of the sutures of the skull, leading to non-specific brain damage due to insufficient expansion of the cranial cavity during the period of most active growth brain. When the question arises of how craniostenosis is treated, few remember the possibility of surgical excision of prematurely overgrown sutures, and only a few know about the existence of the double-flap craniotomy method.

Meanwhile, according to international statistics, premature closure of one of the sutures of the skull (isolated craniosynostosis) occurs in about one in 1,000 children. It is interesting to note that the same frequency is typical in children with cleft lip. At the same time, the diagnosis of cleft lip does not cause difficulties for anyone, because, undoubtedly, every doctor has seen such patients. Whereas almost none of the general practitioners can remember if he has ever seen a child with premature fusion of the sutures of the skull.

The Road to Calvary

Craniosynostosis is the premature fusion of one or more sutures of the skull, leading to the formation of a characteristic deformity of the head. Thus, already in the maternity hospital, a child with suspected craniosynostosis can be isolated from the total mass of newborns and sent for additional examination. In practice, unfortunately, at this stage, all skull deformities found in children are regarded by doctors as features of the postpartum head configuration and they are not given due attention. In the neonatal period, the shape of the skull is also not given much importance. The usual response of a pediatrician to parents' concerns: “... It's okay, he is gaining weight well, jaundice is gone, and his head is so because it lies on its side. Here he starts walking, and everything will disappear.

The psychomotor development of children is lagging behind, skull deformities do not spontaneously disappear, some deformities become less noticeable, hiding under the hair, others are mistakenly regarded by doctors as other diseases, and still others recede into the background in the presence of more obvious dysfunctions of organs and systems. Often, babies with craniosynostoses are consulted by geneticists, and often a group of diseases is correctly established and even a direct genetic syndrome is assumed. Despite this, units of such patients are admitted to specialized clinics for treatment. The vast majority of children who have not received treatment have reduced intelligence and become disabled. Due to the unusual shape of the skull, the proportions of the face are disturbed, and by the time of puberty, such children more often than others have difficulties in social communication and even suicidal attempts are possible.

Parents gradually cease to pay attention to slight deformities of the skull, and if a child has a pronounced facial deformity, pediatric surgeons explain to them that cosmetic defects are corrected only at the age of 16.

Based on the foregoing, we can conclude that in our country there is practically no qualified assistance to children with premature fusion of one or more skull sutures. At the same time, over the past forty years, very much attention has been paid to the treatment of children with congenital deformities of the skull all over the world, and the developed methods of surgical treatment can eliminate brain compression and significantly improve appearance children with craniosynostoses already at the age of three to six months. The main reason for this gap is the lack of available information regarding the features of the diagnosis and treatment of congenital deformities of the skull in children. In order to slightly correct the existing situation, we propose to consider the most common issues of diagnosis and treatment of craniosynostosis.

Diagnostics

The main sutures of the cranial vault are sagittal, coronal, lambdoid, and metopic (Fig. 1). With premature closure of the bone suture, compensatory bone growth occurs perpendicular to its axis (Virchow's law). As a result, a characteristic deformation appears. Let us describe the most common forms of craniosynostosis.

Sagittal craniosynostosis

Premature fusion of the sagittal suture leads to an increase in the anterior-posterior size of the skull with overhanging frontal and occipital regions and to a decrease in its width with the formation of a narrow oval face (Fig. 2). This type of deformity is called scaphocephaly, or scaphoid skull. This is the most common disease among total number isolated synostoses (50-60%). characteristic shape the skull is visible from birth. When viewed from above, the retraction of the parietal regions is noticeable, this gives a sensation of a circular constriction of the cranial vault at the level or slightly posterior to the auricles. A large fontanel is clearly defined, and its dimensions do not differ from the norm. Characteristic is the presence of a bone ridge, palpable in the projection of the sagittal suture.

: a - the child before and b - after the elimination of scaphocephaly.

Metopic craniosynostosis

The rarest representative of the group of isolated craniosynostoses is metopic craniosynostosis, or trigonocephaly, which accounts for 5-10% of their total number. Despite this, this disease is perhaps most often recognized as a congenital deformity of the skull due to its characteristic clinical presentation.

With the early closure of the metopic suture, a triangular deformation of the forehead is formed with the formation of a bone keel extending from the glabella to the large fontanel. When looking at such a skull from above, a clear triangular deformity is visible with an apex in the region of the glabella. In this case, the upper and lateral edges of the orbits are displaced posteriorly, which gives a feeling of turning the plane of the orbits outwards and reducing the interorbital distance (hypothelorism). The forehead deformity is so unusual that children with trigonocephaly are often examined by geneticists and observed as carriers of hereditary syndromes accompanied by a decrease in intelligence. Indeed, trigonocephaly is seen as an integral part of such syndromes as Opitz, Oro-facio-digital syndrom, and some others. It is also true that many syndromic diseases lead to intellectual retardation, but their frequency is so low, and clinical picture so characteristic that it is not worth all the children with only metopic synostosis to rank as a risk group for the development of mental disability.

Unilateral coronary craniosynostosis

The coronal suture is located perpendicular to the median axis of the skull and consists of two equivalent halves. So, with premature fusion of one of its halves, a typical asymmetric deformation, called plagiocephaly, is formed. The appearance of a child with plagiocephaly is characterized by a flattening of the upper orbital edge of the orbit and the frontal bone on the side of the lesion with a compensatory overhang of the opposite half of the forehead (the baby seems to frown on one side of the face). With age, the ipsilateral flattening of the zygomatic region and the curvature of the nose in the same direction begin to appear more clearly. IN school age occlusion deformity joins, associated with an increase in the height of the upper jaw and, as a result, a displacement of the lower jaw on the side of the prematurely closed suture. In severe cases, there is even a compensatory bulging of the occipital region from the side of the synostosis. Violations of the organ of vision are most often represented by unilateral strabismus. Plagiocephaly is most often regarded as a feature of the postpartum head configuration. But unlike the latter, it does not disappear in the first weeks of life, but, on the contrary, progresses with age.

Thus, the shape of the skull plays a huge role in the correct diagnosis.

Of the instrumental diagnostic methods, the best is to carry out computed tomography with three-dimensional remodeling of the image of the bones of the cranial vault and face. This examination helps to identify concomitant brain pathology, confirm the presence of synostosis in the case of isolated damage, and establish any sutures of interest in the case of polysynostosis.

Treatment

The most active period of brain growth is considered to be the age of up to two years. Thus, from a functional point of view, early surgical treatment can prevent craniostenosis. The optimal age for surgery for craniosynostosis can be considered the period from 3 to 9 months. The benefits of treatment at this age can be considered:

• ease of manipulation with thin and soft bones of the skull;
• facilitating the final remodeling of the skull shape by a rapidly growing brain;
• more complete and faster healing of residual bone defects.

If treatment is performed after five years, it is doubtful that it will lead to a significant improvement in brain function. To a greater extent, the operation will be aimed at eliminating the deformity of the head.

The main feature of modern surgical treatment is not only an increase in the volume of the skull, but also the correction of its shape and the combined deformity of the face during one operation.

Once again, we draw the attention of readers to the fact that it is better to play it safe and send a child with skull deformity to a specialist than to miss the pathology. The Department of Oral and Maxillofacial Surgery of the Russian Children's Clinical Hospital has accumulated extensive experience in the diagnosis and treatment of these conditions in children. Little patients come to the department from all regions of Russia. In order to get an appointment with a specialist, you must contact the advisory department of the hospital. It is desirable to have a referral from the regional health department. If the child really needs surgical care, an examination plan is drawn up and a voucher for hospitalization is issued, which indicates the date of admission to the hospital and a list of all necessary documents. The length of stay in the clinic is an average of 34 weeks. Children can be in the department with one of the parents. All children after the treatment until the age of 18 are under the supervision of doctors of department 1.

Summarizing the above, we note once again that in our country there is an extensive layer of patients who, due to the low awareness of physicians about modern possibilities for diagnosing and treating craniosynostosis, do not receive adequate care. Meanwhile, the diagnosis of such conditions is quite simple and possible already at an early stage. Timely qualified assistance to children with craniosynostoses allows, in the first months of life, not only to eliminate the functional deficit, but also to correct the accompanying cosmetic deformity.

Andrey Vyacheslavovich Lopatin Department of Maxillofacial Surgery, State Institution "Russian Children's Clinical Hospital" of Roszdrav, Professor, Dr. med. Sciences

Sergey Aleksandrovich Yasonov, doctor of the Department of Maxillofacial Surgery, State Institution "Russian Children's Clinical Hospital" of Roszdrav

1 More information can be found on the website: www.cfsmed.ru