Pediatric White Matter Spongiform Degeneration Syndrome

Introduction to cerebral white matter spongiform degeneration syndrome in children Canavanssyndrome is an autosomal recessive hereditary disease characterized by progressive head circumference enlargement and rapid decline in nervous system function. Pediatric white matter spongiform degeneration syndrome is also known as central nervous system spongiform degeneration, Canavan syndrome, Van-Bogaert-Bertrand syndrome, and splenic degeneration of the nervous system. basic knowledge The proportion of illness: 0.0005% Susceptible people: children Mode of infection: non-infectious Complications: electrolyte imbalance

Causes of cerebral white matter spongiform degeneration syndrome in children

Causes:

The etiology of cerebral white matter spongiform degeneration syndrome has not been ascertained and is generally considered to be autosomal recessive. Autosomal recessive inheritance: A person must have two copies of an abnormal allele to develop an autosomal recessive disorder. Some people may have a high rate of heterozygotes or carriers because of the founder effect (the group originated with very few members, one of whom is a carrier), or because the ancestors gave the carrier some choice advantage ( For example, in sickle cell anemia, heterozygous individuals do not develop malaria.

Pathogenesis:

Pathological changes have severe brain edema, increased brain weight, increased volume, softening, and flattening of the brain. The protoplasmic astrocytes of the cortex are highly swollen and form vacuoles. In the white matter of the brain, edema affects the extracellular region, and vacuoles are found in the extracellular region and the myelin sheath, so it is called spongy degeneration. In the advanced stage, there is severe demyelination and gliosis.

Demyelinating: Demyelinating diseases are a large class of acquired diseases with different clinical manifestations but similar characteristics. The characteristic pathological changes are the loss of myelin in nerve fibers and the relative maintenance of nerve cells. . The role of myelin is to protect neurons and to make nerve impulses transmit quickly on neurons. Therefore, the loss of myelin can affect the transmission of nerve impulses. The clinical manifestations are:

(1) Psychiatric symptoms: such as irritability, strong crying, strong laughter, memory loss, etc.;

(2) dysarthria or different voices;

(3) visual impairment;

(4) feelings of fainting or paresthesia;

(5) Physical activity is unfavorable or paralyzed;

(6) urinary disorders, impotence, etc.

Prevention of cerebral white matter spongiform degeneration syndrome in children

Pre-marital medical examination plays an active role in preventing birth defects. The size of the effect depends on the examination items and contents, including serological examination (such as hepatitis B virus, treponema pallidum, HIV), reproductive system examination (such as screening for cervical inflammation), Ordinary medical examinations (such as blood pressure, electrocardiogram) and asking about the family history of the disease, personal medical history, etc., do a good job in genetic disease counseling. Pregnant women should avoid harmful factors as much as possible, including away from smoke, alcohol, drugs, radiation, pesticides, noise, volatile harmful gases, toxic and harmful heavy metals. Systemic birth defect screening is required during antenatal care during pregnancy, including regular ultrasound, serological screening, and, if necessary, chromosomal examination.

Complications of cerebral white matter spongiform degeneration syndrome in children Complications electrolyte disorder

Due to excessive sweating, high fever, vomiting can cause imbalance of water and electricity, can be accompanied by convulsions, convulsions, increased muscle tone, showing a cortical tonic state. Loss of vision, progressive mental retardation, etc.

Symptoms of cerebral white matter spongiform degeneration syndrome in children Common symptoms Infant feeding difficulties go to the brain tonic muscle tension reduce convulsions Optic nerve atrophy visual impairment angulation

1, children with white matter spongiform degeneration syndrome early, children with vomiting within 2 months after birth, breastfeeding difficulties, with seizures, gradually appear paralyzed. Some children can't put their heads up at the beginning, and they have progressive sputum.

2, after 1 year old, the muscle tension increased, showing a cortical tonic state. Angular reflexes may occur when stimuli such as sound, light, or touch.

3, 2 years old after vision loss, optic atrophy.

4, one of the characteristics of this symptom is the increase in head circumference, separation of bone joints, can occur in the beginning of the disease 2 to 5 months, rapid for several months, after 2 years of age, the rate of increase slowed down. The disease is getting worse, convulsions, sweating, high fever, vomiting, and more deaths at 4 years old. There are also morbidity, muscle relaxation, lethargy, breast pumping and difficulty swallowing, which can die within a few weeks. Other onsets were late, and at the age of 5, progressive mental retardation, cerebellar sign, visual impairment, optic atrophy, and pigmented retinal degeneration occurred.

Examination of cerebral white matter spongiform degeneration syndrome in children

General blood routine, urine routine, routine examination results are normal, cerebrospinal fluid examination is normal.

1, brain CT, X-ray cranial examination: abnormal changes such as cerebral edema. The clinical manifestations of cerebral edema are: increased intracranial pressure and cerebral palsy, respiratory, mental changes and mental symptoms. Children can have high fever and convulsions.

2, EEG: no specific brain wave changes.

3, fundus examination: see retinal atrophy, pigmented retinal degeneration.

Diagnosis and differential diagnosis of cerebral white matter spongiform degeneration syndrome in children

According to clinical features, the head circumference is too large, the muscle tension is low, the cortical rigidity, optic atrophy, seizures, normal cerebrospinal fluid, and no specificity of EEG are diagnosed.

Differential diagnosis

Some diseases with enlarged head circumference should be differentiated. The increase in the head circumference of Tay-Sachs is late, and the red spot on the macula can be identified. Alexander's disease also has a large head, but the course of the disease is different from the disease. Tay-Sachsdisease (Tay-Sachsdisease) refers to a recessive autosomal genetic disease associated with sphingolipid metabolism. The cortical and cerebellar nerve cells and axonal nerves are caused by the lack of lipogranzyme hexose deaminase A. Glioside GM2 accumulates and precipitates. Retinal neurofibrosis exposes the vasculature of the macular area, and a diagnostically visible pink spot appears on the ophthalmoscopy. In the 6 months after birth, there may be severe mental and mental motor development disorders, irritability, blindness, tonic spasm, convulsions, and eventually to the brain toughness and death in the age of 3 years. The disease has the highest incidence in the Ashkenazi Jews.

In recent years, the incidence of heterozygous screening and pre-delivery diagnosis has decreased. Myelin dysplasia leukoencephalopathy (Alexander disease): typical patients develop from 1 to 2 years old, have growth and development stagnation, gradually enlarged head, convulsions, mental and motor function deterioration, will not look up, turn over or Sit up. The whole body muscle tension is increased, and gradually becomes strong, and the limbs activity is reduced and paralyzed. It can be accompanied by symptoms of hydrocephalus, brain stem or peripheral nerves. More than 1 to 2 years of onset of death from systemic failure or respiratory complications. The onset of juvenile type is 6 to 10 years old or later, mainly manifested as symptoms of brain stem damage such as difficulty in swallowing, difficulty in pronunciation or slurred speech, and progressive upper and lower extremity. The head is not enlarged, and the intelligence is not affected. The course of the disease is slow and can survive to adulthood.

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