Pediatric spheroid cell leukodystrophy
Introduction
Brief introduction of globular cell white matter malnutrition in children Spherical cell leukodystrophy, globoid cell leukodystrophy (GLD), also known as Krabbe white matter malnutrition, Krabbe disease, Krabbe acute infantile brain sclerosis, spherical leukocyte developmental disorders, congenital muscular dysplasia, Spheroid cell type leukoencephalopathy, squamous cell type diffuse sclerosis, Krabbe syndrome, and the like. It is an autosomal recessive inheritance, which is a deficiency of -galactosidase or a decrease in its activity, which is caused by brain lipid deposition. basic knowledge The proportion of illness: 0.003%-0.008% Susceptible people: children Mode of infection: non-infectious Complications: dementia, epilepsy, optic atrophy, ataxia
Cause
Pediatric globular cell leukodystrophy etiology
(1) Causes of the disease
As an autosomal recessive hereditary disease, the basic cause is the deficiency of -galactosidase or its activity.
(two) pathogenesis
Galactocerebroside is hydrolyzed to ceramide and galactose by enzyme catalysis. When the enzyme is deficient, galactocerebroside is deposited in the brain. Galactose cerebroside is an important component of myelin, which is developed in the nervous system. At the stage, the myelin sheath is continuously metabolized and renewed. At this time, due to the lack of enzyme, galactocerebroside can not be decomposed, and it is deposited in the cell and is spherical. The white matter of the brain appears to have a large number of spherical cells containing sediment, and the enzyme activity in the brain is normal. 10%.
Prevention
Pediatric globular cell leukodystrophy prevention
Heterozygous examination can be carried out by using 3H-labeled galactocerebroside as a substrate to determine the enzyme activity in serum. Genetic counseling is very important. Prenatal diagnosis is possible. Prenatal diagnosis can be performed by measuring amniotic fluid enzyme activity, or it can be performed with fluff. Prenatal diagnosis of enzymology, according to which genetic disease prevention work can be done, and pregnancy can be terminated if necessary.
Complication
Pediatric globular cell leukodystrophy complications Complications, dementia, epilepsy, optic atrophy, ataxia
Mental retardation, dementia, often seizures, optic atrophy, irregular high fever, and finally go to the state of brain tonic, hemiplegia, ataxia, mostly died in 3 to 12 years old.
Symptom
Pediatric globular cells, white matter, malnutrition symptoms, common symptoms, decreased muscle tone, mental retardation, irritability, phlegm, reflexes, dementia, brain, tonic, mental retardation, visual impairment, hyperthermia, nystagmus
The child is normal at the time of birth, and begins to develop in about 4 months in infancy. In the early stage, there is a decrease in muscle tone and irritability. When the condition progresses, the muscle tension increases, the limbs are straight, the tendon reflex is hyperthyroidism, and there is pathological reflex. Intelligence is rapidly diminished, often with seizures, with clonic or generalized seizures, optic atrophy, nystagmus and irregular high fever are two characteristics of this disease, the disease progresses faster, and finally the brain is straight and straight, to the outside world The reaction completely disappeared and often died within 2 years of age.
Some cases have a late onset and a longer course. They start from 2 to 5 years old and die between 3 and 8 years old. The main symptoms are hemiplegia, ataxia, visual impairment, dementia, seizures, and extensive EEG. Waves, myoelectricity shows that nerve conduction is prolonged, and protein in the cerebrospinal fluid is often increased.
Examine
Examination of globular white matter malnutrition in children
Cerebrospinal fluid protein is normal or increased. Electrophoresis shows that albumin and 2-globulin are increased, 1- and -globulin are decreased, but -globulin is significantly reduced, and the gold-gold test is normal.
The diagnosis of this disease is based on the activity of -galactosidase of leukocytes or skin fibroblasts. The enzymatic activity of heterozygotes is between normal and patients. Genetic counseling is very important. Prenatal diagnosis is possible, by measuring amniocytes. Enzymatic activity can be used for prenatal diagnosis, and prenatal diagnosis can be performed with fluff.
EEG can be seen in a wide range of slow waves, electromyography shows prolonged nerve conduction, brain CT or MRI examination shows symmetrical white matter lesions in the brain, brain atrophy can be seen in the late stage, and ventricles enlarge.
Diagnosis
Diagnosis and diagnosis of globular leukodystrophy in children
According to the activity of galactocerebrosidase in leukocytes or skin fibroblasts, the diagnosis can be confirmed, obvious thermoregulatory disorders, progressive hypothermia, pyramidal tract symptoms and signs and visual impairment, etc. should be considered, white blood cells or The activity of -galactosidase of skin fibroblasts can be confirmed.
This symptom is similar to metachromatic leukodystrophy, clinically, there is a decline in psychomotor development, obvious corticospinal tract and cortical medullary tract signs, the initial sputum reflex disappears as a prominent performance, and the sulphate leukodystrophy Identification, in the latter, there is no involvement of peripheral nerves, usually late onset, no specific biochemical abnormalities were found.
