Septopsychiasmal dysplasia of the brain in children - Morcière syndrome

Septooptic dysplasia

Septooptic dysplasia- congenital disease, related to the defects of the proenzencephalic group, is characterized by abnormalities in the development of the optic nerve, pituitary gland and transparent septum.

Symptoms of this condition are nystagmus and other visual disturbances, signs of endocrine disorders (stunting and puberty), mental retardation may develop.

Diagnosis of septooptic dysplasia is made on the basis of general examination data of the patient, ophthalmologic studies, computer and magnetic resonance imaging of the brain, as well as molecular genetic analyzes.

Specific treatment is not developed, symptomatic measures include vision correction and hormone replacement therapy for endocrine disorders.

The causes of this condition, in addition to genetic mutations, can be mother infection during childbearing, young parents, vascular disorders in women.

The name "septooptic dysplasia" was introduced by the French pediatrician De Morsier, who in 1956 compiled the most extensive and complete description of this condition.

At the moment, under the De Morsier syndrome, geneticists only mean the hereditary form of septooptic dysplasia.

To date, the general occurrence of this disease (both acquired and hereditary forms) is approximately 1 case per 10 000 newborns, boys and girls are affected with the same frequency. The severity of septooptic dysplasia can be significantly different in different patients - from practically complete absence of symptoms to severe disorders complicated by cerebral palsy, backlog in physical and mental development.

Causes of septooptic dysplasia

Septooptic dysplasia of a hereditary nature develops due to mutations in the HESX1 gene located on the 3rd chromosome.

This gene belongs to a vast class of homeobox genes that actively participate in the regulation of embryogenesis.

In particular, HESX1 regulates the embryonic development of brain structures (a transparent septum, pituitary, chiasma, optic nerve), so its mutations lead to the development of septooptical dysplasia.

The severity of the symptoms of the disease can vary significantly - from minor visual disorders (myopia, strabismus) to a vivid clinical picture with blindness, hypopituitarism and severe mental backwardness.

Researchers have not yet found a relationship between the type of HESX1 mutation and the severity of septicoptic dysplasia symptoms.

Perhaps the development of this disease is the result of the combined influence of both internal (genetic) and external factors.

It also remains unclear that in children of young mothers (less than 23 years of age), septooptic dysplasia occurs more often, and its heritable variety is much more difficult.

The pathogenesis of septooptic dysplasia consists in the violation of the process of differentiation of embryonic tissues in the region of the embryos of the pituitary gland, chiasma, corpus callosum and other brain structures.

For this reason, this disease in severe cases can be accompanied by other neurological symptoms - infantile cerebral palsy, mental retardation.

Almost always with septooptic dysplasia, these or other visual impairments and endocrine disorders caused by malformations of the pituitary gland are revealed.

The age of symptoms of septooptic dysplasia varies greatly in different patients, in severe cases the diagnosis can be put in the first days and months of life, with the erased form of the disease - only in the younger or even older children's age. Usually the first manifestation of pathology is the development of horizontal nystagmus caused by optic nerve hypoplasia. Even earlier, when examining a child, signs of endocrine insufficiency of the pituitary gland can be determined: hypoglycemia, reduced size of the genital organs, abnormal jaundice. In rare cases in the first months of life with septooptic dysplasia, convulsive seizures arise, long-term preservation of transient reflexes, and other neurological disorders.

As a child with septooptic dysplasia grows, a lag in both physical and intellectual development may be revealed. Pathologies of vision are increasing, often epileptic seizures occur.

In such patients, usually before the peer group, puberty begins due to endocrine disorders. However, in some cases, endocrine disorders can be expressed rather poorly or completely absent.

The same situation with the delay in the mental development of patients with septooptic dysplasia - it ranges from normal intelligence to deep mental retardation.

The latter may indicate the presence of concomitant malformations of the brain - holoprozenzepalii, hypoplasia of the corpus callosum. The inconsistency of the symptoms and varying degrees of their severity significantly complicates the diagnosis of septooptic dysplasia.

To determine septooptic dysplasia, the results of a general examination of the patient, neurological and ophthalmological studies, magnetic resonance imaging and computed tomography, molecular genetic analyzes.

On examination, a lag in physical development (in young children) may be detected, early onset of puberty (in adolescents), signs of multiple hormonal insufficiency.

However, it is problematic to diagnose septooptic dysplasia according to the clinical picture, since this condition is characterized by considerable variability of symptoms.

Magnetic resonance imaging determines absence or expressed underdevelopment of the transparent septum, aplasia or hypoplasia of the optic nerve, in some cases - underdevelopment of the corpus callosum.

Disturbances in the formation of the pituitary gland are revealed, especially in severe cases of septooptic dysplasia, other central nervous system defects, for example, holoproencephaly, can be detected.

Biochemical blood test can confirm the presence of insufficiency of growth hormone (somatotropin) and other pituitary hormones.

Molecular genetic diagnosis is performed by a geneticist, direct sequencing of the HESX1 gene is performed to confirm mutations.

The absence of genetic defects is not an excuse for the exclusion of septooptic dysplasia, since the disease can result from non-hereditary causes. The "gold standard" in the diagnosis of this condition is the data of MRI and CT.

Specific treatment of septooptic dysplasia does not exist, symptomatic and palliative treatment measures are used.

In the presence of endocrine disorders, substitution therapy is prescribed, the scheme of which depends on the nature of the hormonal dysfunction, which is determined in the blood test.

Symptomatic therapy includes the use of anticonvulsants (with epileptic seizures) and nootropics, the work of child psychologists with a sick child with mental backwardness.

Prognosis and prevention of septooptic dysplasia

The prognosis of septooptic dysplasia is most often uncertain because of the strong variability in the manifestations of the disease.

In the presence of severe hypoplasia of the optic nerves, pituitary gland, transparent septum, there is an extremely high risk of death in early childhood due to numerous disorders.

Similarly, the prognosis of septooptic dysplasia worsens concomitant pathologies - infantile cerebral palsy, holoprozenzepalya.

In many cases, the disease is quite favorable - the symptoms are limited to minor visual impairment, sometimes with poorly expressed mental retardation, an increased risk of convulsive seizures. Prevention of septooptic dysplasia is possible only with regard to the forms of the disease caused by non-hereditary causes - infectious diseases of the mother, her young (young) age, vascular disorders during pregnancy.

A source: http://www.krasotaimedicina.ru/diseases/genetic/septo-optic-dysplasia

Neuroimaging the disorders of organogenesis of the brain

annotation

All gross malformations of the brain are accompanied by severe mental retardation, congenital malformations of other organs.

Active use of modern neuroimaging methods of examination allowed to significantly expand knowledge in the field of brain anomalies, determine their role in assessing neurological status and prognosis disease.

Anomalies of brain development are one of the frequent causes of the appearance of neurological symptoms in newborns and children of the first years of life.

All gross malformations of the brain are accompanied by severe mental retardation, congenital malformations of other organs.

The birth of children with coarse malformations of the development of the brain is a serious social and psychological aspect, both for the child's parents and for the whole society.

1. Violation of neuronal tube closure

- Arnold-Chiari anomaly

- cephalocele

- agenesis of the corpus callosum

- Dandy Walker Complex

- craniosis

2. Disturbance of diverticulosis or division of the brain

- holoprozenzepalya (alobar, seven-lobar, lobar)

- septicooptic dysplasia

3. Violations of the formation of gyri and cell migration (malformation of cortical development)

4. Dimensional violation

- microcephaly

- macrocephaly

5. Destructive lesions

- hydranencephaly

- panencephaly

- Inflammatory diseases caused by rubella, toxoplasmosis, herpes

- hypoxic-anoxic lesions

6. Obstructive disorders (stenosis of the aqueduct)

Purpose of the study:study of the frequency and structure of congenital malformations of the brain in newborns and children of the first years of life according to the computed tomography department of the MC of the State Medical University Families.

Materials and methods of research

The work is based on the analysis of CT studies of the brain of 205 newborns and children of the first years of life (1-3 years) who were on inpatient treatment at the MC of the State Medical University

Families from 2008 to 2012 Computed tomography was performed on a computer tomograph GE CTe (USA).

CT was carried out with a tomography step of 5 mm with an angle of inclination of the Gentry parallel to the base of the brain.

For contrast enhancement, 26 children used a non-ionic contrast substance, "Ultravist" (Shering), calculated as ml, per kg of body weight. CT scans were performed according to strict clinical indications.

The most common indications for neuroradiologic examination of children is the lag in the mental development, convulsive syndrome, hydrocephalic syndrome, signs of an organic or infectious lesion of the head the brain.

To ensure the immobility of the child sedation was administered.

Results of the study.

Violation of organogenesis of the brain was detected in 29 children, which is 1% of the total pathology. In the structure of gross defects in the development of the brain, the most frequent changes were destructive brain injuries caused by hypoxic-anoxic lesions (Fig.

1) and intrauterine inflammatory lesions.

Picture 1.Destructive defeatof the brain of hypoxic origin

Figure 2.Hydranencephaly

Similarly, from the destructive lesions of the brain, six cases of hydrangephalic disease have been identified. Hydraencephaly (Fig.

2) is a gross defect in the development of the brain, characterized by the absence of cerebral hemispheres with the preservation of thalamuses and the cerebellum.

Hydrangephalic multifactorial developmental defect, is formed as a result of disruption of neural tube formation in the period of 21-28 days of pregnancy.

Hydranencephaly was diagnosed in 2 girls and 4 boys, with all but one cases identified during the first month of life. In one case, the diagnosis was made in the third month of life.

Porencephaly (Fig.,) Was found in two children aged one to three years.

Porencephaly is a lymph-containing cavity that communicates with the outer subarachnoid space or with the ventricles of the brain.

Porencephaly can be true (congenital) and false due to the processes (traumatic, inflammatory, etc.).

Further on the frequency followed by the developmental defects of the brain, associated with a violation of the formation of convolutions - 5 cases. From this group of defects, lentencephaly (agiria) -3 cases (Fig.

In general, lissencephaly is characterized by mental retardation, an early onset of epilepsy. It occurs equally often both in girls and in boys.

In one case, the lipencephaly was combined with the syndrome of the double cortex (in the thickened cortex of the brain, a thin layer of white matter-ribbon heterotopy) was determined.

The third group of brain defects - a violation of cerebral diverticulization (holoprozenzepalya) was detected in two patients.

Holoprozeecephalus is an incomplete separation of the cerebral hemispheres of different degrees of severity.

In one case, holoproencephaly was combined with malformation of the face (cleft palate).

In the group of abnormalities of neuronal tube closure, agenesis of the corpus callosum of 4 cases and 1 case of the Dandy-Walker complex were identified (Fig. 7).

The agenesis of the corpus callosum was exhibited by indirect signs, which include increasing the distance between the lateral ventricles, the lateral ventricles are parallel to each other, the interhemispheric fissure is the extension of the third ventricle due to the absence of the callosity knee body.

Conclusions:

1. The active introduction of modern neuroimaging methods of examination into the practice of the children's neurologist significantly expand knowledge in the field of brain anomalies, determine their role in assessing neurological status and prognosis disease.
2. According to the CT scan, a high incidence of gross developmental defects in the brain is revealed, characterized by destructive lesions. Among this group, the most frequent causes of organogenesis disorders were hypoxic-anoxic lesions and inflammatory diseases. These causes of brain defects are eliminated by a healthy way of life of parents, early diagnosis of inflammatory diseases, proper management of pregnancy.
3. A high percentage of children born with hydranencephaly, which indicates incomplete coverage of the planned ultrasound study of pregnant women.

Doubtful results in CT were found in the diagnosis of such anomalies of brain development, as heterotopies, closed schizencephalus. These patients were recommended magnetic resonance imaging.

A source: http://journal.ssmu.kz/index.ph? tatja = 1174 & amp; ang = en

The child dysplasia - what to do?

Regardless of whether the pregnancy was desired or unwanted, the smallest person for most parents is the light in the window, the sweetest and beloved child in the world.

The most common achievements are perceived as incredible and brilliant, and there is no grief more than the appearance of the disease. Illness of children, as a rule, requires full return and sacrifice of parents.

If the child has dysplasia, then the full recovery depends on the attention of parents, doctors and early diagnosis.

What is dysplasia?

The very word dysplasia speaks of the incorrect development of organs, parts of the body, tissues. This is not necessarily an infantile illness, many ailments appear in adulthood, for example, dysplasia of the cervix. The following types of dysplasia can be distinguished:

1. Epiphyseal. The formation of bones in the embryo occurs in two stages: the ossification of the connective tissue with the formation of the bones of the skull and the ossification of the cartilaginous tissue with the formation of the spine, limbs. Epiphyseal dysplasia is a disorder in the development of the bones of the spine and limbs (spondylodysplasia of the knee and hip joint, cervical, thoracic, lumbar spine).
2. Ectodermal. The disorders concern the tissues developing from the embryo ectoderm: the nervous system, tooth enamel, skin, sensory organs.
3. Acromic. It is a congenital anomaly in the development of bones: growth retardation, shortened brushes, feet, facial disorders.
4. Fibromuscular (fibro-muscular). Violations concern the muscular and internal elastic layer of the arteries.
5. Fibrous. Relatively rare pathology, characterized by the degeneration of ordinary bone in the fibrous due to disturbances in the development of osteogenic mesenchyme in the embryo.
6. Cervical intraepithelial neoplasia. Acquired violations. The most common is dysplasia of the cervix.
7. Focal cortical. It is a violation of the cerebral cortex.
8. DST (connective tissue dysplasia). Hereditary mutation of genes that affect the organization of collagen tissues.
9. Cardiomyopathy (arrhythmogenic right ventricular dysplasia). Hereditary heart disease.
10. Bronchopulmonary. It occurs in preterm infants after mechanical ventilation.

The causes of dysplasia in a child are, as a rule, hereditary, prematurity or associated with the course of pregnancy in a woman.

It can be during pregnancy viral infections, malnutrition, the presence of bad habits, such as smoking and alcohol in the future mummy, as well as other features of pregnancy: lethargy, toxicosis, wrong position the fetus.

Hip Dysplasia

The success of treating this disease depends on the early diagnosis of infants. Therefore, children under one year of constant examination.

The signs of the presence or absence of dysplasia of the hip joint are trying to identify in infants still in the hospital.

Then the examinations are repeated in a month-old child, at 3 months and a year. Symptoms of ailment:

• restriction of movement and click syndrome when bending legs are bent to the sides;
• asymmetrical arrangement of skin folds on the legs;
• shortening of the affected limb.

If there are signs, then the diagnosis is clarified with x-rays and ultrasound of the hip joints.

Usually, hip joint spondylodysplasia is diagnosed in 2-4% of infants.

Depending on the development, location and joint work of the head of the femur and the acetabulum, the ailment is divided into 3 stages: prelivion (1), subluxation (2), dislocation (3).

The prefigure is the instability of the hip joint. In other words, the acetabulum is not fully formed and the femoral head is not fixed permanently, but moves without leaving the joint boundaries.

When the subluxation occurs, the femoral head extends from the acetabulum and re-enters with a slight click.

When dislocated, the femoral head is located away from the acetabulum, and, in addition, the capsule deforms.

If pre-exhalation is not treated, then subluxation and dislocation of the hip joint develops. Consequences: a child later begins to walk, a one-year-old child develops a characteristic duck walk. Treatments should be started as early as possible using the following methods:

From 1 to 6 months of babies should be swaddled in a wide way. Previously it was believed that tightly swaddling - it meant helping to straighten the entire spine.

Now it is not practiced swaddling in the usual way. For the treatment of dysplasia, fixation of the hip joints in the diluted position is performed.

It is in this situation that the joint develops correctly.

If the violations were detected late and conservative methods of treatment did not help, then it is necessary to treat with a surgical method: the correction and restoration of the hip joint during the operation. At the age of one to two years, the dislocation is carried out under anesthesia. After 2 years of using an open form of surgery.

Disease of the spine

Dysplasia of the spine - a very capacious concept, which includes a lot of different abnormalities and pathologies. In most cases, these disorders are congenital and hereditary.

Signs and symptoms can occur in different age groups: at the time of the birth of the child, in childhood (from one year to 12 years), in adolescence and adulthood. Various parts of the spine may be affected: bones and tissues of the cervical, thoracic, lumbar spine.

It is possible to combine and mix pathologies.

Dysplasia of the spine is fibrous, cartilaginous and bony.

Fibrous form can be monolocal (lesions of the vertebrae of one department), polyosseous (developmental disruption in several neighboring vertebrae), dysostosis (a group of various hereditary diseases). The cartilaginous form of lesion of the spine is characterized by the pathologies of cartilaginous tissue only, without involving bone tissue in the process.

Bone dysplasia is a deformation of the bones of the spine under the influence of loads, injuries, in childhood and adolescence.

The cause of the change is not fully established, but there is supposedly a hereditary and congenital instability of the vertebrae.

It includes the following diseases:

Disease of Sheyermann-Mau. It develops at the age of 10-15 years. Characterized by the curvature of the spine (kyphosis) in the lower part of the thoracic region and the lumbar spine (lordosis).

As a rule, patients have no complaints at an early age. Defeat occurs in the area of ​​growth of cartilage.

Violation of the structure of the bodies of individual vertebrae leads to flattening, the formation of a wedge-shaped, hernia Schmorl.

The disease in mild form can appear after 7 years and represents a curvature of the spine, a shortening of the body, a decrease in mobility of the hip joint.

It is most often localized in the lower part of the thoracic and upper lumbar region. Causes - congenital disorders of ossification of cartilaginous rudiments.

Achondroplasia. Hereditary disease, manifested in the week of embryo development. It is characterized by inhibition of the development of bones in length, so patients are dwarfs with a large head. The vertebral column is curved, and the X-ray of the lumbar spine shows a decrease in the intercutaneous space.

Congenital fragility of bones. Such a violation of bone formation leads to thinning of bone tissue. The consequences are numerous fractures. Can end with a lethal outcome of a child up to a year. The late form appears in children, teenagers and stops after puberty.

Generalized hyperostosis. This disease on the contrary leads to a thickening of the bones, which often leads to compression of the spinal cord.

It is impossible to treat all kinds of dysplasia equally, for each species and for each individual child their methods of treatment. But often treatment includes massage, exercise therapy, fixation of the affected area.

Treatment of other types of dysplasia

In some types of ailments, there are no ways to treat the disease. For example, ectodermal dysplasia.

For her, general recommendations have been developed to maintain moisture, skin temperature.

In addition, immunotherapy, massage to increase resistance to viral infections, dental prosthetics, surgical cosmetology is recommended.

For other types of disease, treatment is lengthy and complex.

In most cases, it is not a complete cure, on the contrary, for many types of ailment the consequences are disability of the child up to a year or in the first few years.

The most favorable prognosis in the treatment of dysplasia of the hip joint of a child with diagnosis in the first days after birth.

It is worth thinking about the prevention of congenital diseases. Future moms should closely monitor their own health and, of course, abandon bad habits.

The appearance of a seriously ill child after childbirth often has devastating consequences, his own carelessness changes the habitual way of life, destroys family relationships.

Be reasonable - take care of your future!

A source: http://drpozvonkov.ru/sustavy/u-rebenka-displaziya.html

Brain dysplasia in children

Cortical dysplasia of the brain

Cortical dysplasia involves several variants of the disruption of the organization of nerve cells in the brain. Lissencephaly is an underdevelopment of cerebral convolutions with a smooth surface of the cerebral hemispheres.

The concept of cortical dysplasia combines the following options for disrupting the organization of nerve cells:

• lissencephalia (agyria)
• pahigiriya
• micro-polygry
• schizencephaly
• transmania dysplasia

All these variants of the brain abnormality can be focal and generalized.

Lissencephalia (agiria) and pahigiriya - underdevelopment of cerebral convolutions with a smooth surface of the cerebral hemispheres, can be total and focal.

In general, lissencephaly is characterized by mental retardation, an early onset of epilepsy. It occurs equally often both in girls and in boys. Often recorded on an echoencephalogram.

Two morphological types of lissencephaly are described.

The 1st type is Bilschowski type, which is characterized by 4-layer bark. The fourth layer is formed from heterotopic neurons. This type is often associated with other anomalies - heterotopia, macro and microgyria, schizencephalus, etc.

Patients with hypotension, mental retardation, epileptic seizures. This type has genetic and chromosomal heredity.

It is the main morphological sign of the varieties of Warburg and Seckel (dwarfism with poultry), the syndromes of Miller-Dilker and Norman-Roberts (epilepsy, mental retardation, facial dysmorphism and other stigmata) associated with deletion (doubling) of the 17th chromosomes.

The second type is Walker's lissencephaly with a complete absence of the cortical layer. It is combined with hypoplasia (underdevelopment) of the cerebellum, anomaly of the eyes and other brain changes.

Microgry (micro-polygry) is a disease in which the brain is a set of small, short, shallow gyruses. Focal (localized) microgry of different areas is more common.

It can be the structural basis of many genetic and chromosomal syndromes (Dandy-Walker, Arnold-Chiari, Tseveveger, neonatal adrenoleukodystrophy, etc.).

Microgyria is a morphological defect in the Foix-Chavany-Marie syndrome (mental retardation and pseudobulbar paralysis).

Polymicropathy was called congenital bilateral perisylvia syndrome.

Symptoms of it are: congenital central diplegia (paralysis) of facial, pharyngeal and chewing musculature, 100% violation of the movement of the tongue in combination with mental retardation and epilepsy.

Convulsions debut, as a rule, in the first year of life. By their nature, they can be both focal (local) and generalized, do not lend themselves to anticonvulsant therapy.

Focal cortical dysplasia is a partial disturbance of the processes of development of the nervous system, resulting in the formation of pathological cortical areas. The area of ​​primary localization of focal cortical dysplasia is frontal and temporal parts of the brain.

Focal cortical dysplasia is characterized by pronounced, demonstrative and sometimes unusual motor phenomena (gestural automatisms (de novo), pedaling by the type of marking on the spot), accompanying seizures.

Based on the article Anomalies of the brain (migration disorders) in children: clinical and radiological manifestations

Septopsychasmic dysplasia

Hello! My daughter in the year was diagnosed by ultrasound - septochiasmal dysplasia, said there was no septum between the ventricles. In addition, there is a moderate grade ventriculomegaly.

Prior to this, four ultrasound were performed, ventriculomegaly was observed in the dynamics, there was no septum, no one spoke, two of these ultrasound were done on the same apparatus.

The neurologist said that septochial dysplasia is congenital, is it possible that on the 4th previous ultrasound it was not noticed? Or is it a mistake? The child in mental development does not lag behind, there was no symptomatology of any kind, sleeps, eats normally
Anna

When setting this type of diagnosis, careful monitoring by a neurologist is necessary, as well as consultation with a neurosurgeon if possible, besides this, eye defects can be detected.

Identify this type of developmental defect of the brain or, at least, it can be suspected even during pregnancy, with the passage of ultrasound at 22-24 weeks, when a specialist carefully studying the structure of the brain of the fetus, in addition in the second trimester of pregnancy in this type of pathology or suspected of her appoint screening test.

As at the time of pregnancy in 13-14 weeks. Diagnosis of congenital malformations of the child's brain depends largely on the quality of the equipment, as well as on the qualification of the specialist. This kind of vice is often accompanied by hydrocephalus and can combine various kinds of symptoms, from seizures, to a lag in the development of mental character.

In the event that the ventricles of the brain are enlarged in size, it makes sense to suspect that the child has the possibility of accumulation inside the skull of cerebrospinal fluid. Taking into account the fact that earlier the child did not have this kind of pathology when performing ultrasound of the brain, it is worth repeating the examination with another specialist in order to clarify diagnosis. Sincerely, Veronica.

A source: http://lechenie-detok.ru/mozg-rebenka/displazija-golovnogo-mozga-u-detej.html