Krabbe disease
Introduction
Introduction to Crabbe disease Krabbedisease was first reported by the Danish pediatrician Krabbe in 1916, hence the name Krabbe disease. According to its clinical features, it is also known as infantile familial diffuse sclerosis. It is an autosomal recessive metabolic disease. The mutant gene is located at 14p. The genetic defect of Crabbe disease causes a deficiency in galactocerein--galactosidase, which is an inherited metabolic disease that mainly affects white matter. The prognosis of this disease is extremely poor, and infants often suffer from illness within 1 year of age. Late-onset people can survive to around 10 years old. basic knowledge The proportion of illness: 0.001% Susceptible people: good for infants and young children Mode of infection: non-infectious Complications: dementia
Cause
Cause of disease
(1) Causes of the disease
The disease is autosomal recessive, the mutation gene is located at 14p, the gene defect of the child, the lack of galactocerein--galactosidase in the body, resulting in the deposition of many galactocerebrosides in the white matter of the brain.
(two) pathogenesis
The lack of galactocerein--galactosidase caused by genetic defects in children, the main pathological changes are limited to the white matter of the central nervous system, which is characterized by a large number of globoid cells in the affected white matter, and many half in the cells. The deposition of lactosocyanin, irregular cytoplasm, contains several nuclei, has a smooth endoplasmic reticulum and many free ribosomes. In addition, the white matter is obviously lost in the myelin, secondary to astrocytes and gliosis.
At the same time, the peripheral nerves are involved in the neuromuscular cells (Schwan cells), and there may be segmental myelin loss, interstitial hyperplasia and other lesions. The optic nerve can be equally affected, but peripheral axons are often Keep it perfect.
Prevention
Crabbe disease prevention
Genetic metabolic diseases are difficult to treat, and the efficacy is not satisfactory. Prevention is more important. Preventive measures include avoiding close relatives, conducting genetic counseling, genetic testing of carriers, prenatal diagnosis and selective abortion to prevent the birth of children.
Complication
Crabbe disease complications Complications dementia
As the disease progresses, the clinical symptoms and signs are diverse, especially the combined mental retardation, blindness, deafness, lung infection, and falls.
Symptom
Symptoms of Klaper's disease Common symptoms Cross-leg dementia, convulsions, optic atrophy, high fever, hearing, vision, touch... Cerebellar ataxia hyperhidrosis
Crabbe disease was first reported by Danish pediatrician Krabbe in 1916. It was then called familial diffuse sclerosis in infants, and later called Krabbe disease. This disease is also known by some experts as a lytic enzyme classified as a neurotrophic organelle. Physical illness.
Clinically, according to the age of onset, it can be divided into two types: infant type and late type, and infant type Krabbe disease is the main type. The typical clinical manifestation is divided into three stages:
1. The baby is normal at birth, within a few weeks to several months after birth (more than 3 months, 10% after 1 year old); the common feature is that the child is extremely excited, frightened, and has no incentive to cry frequently. It is stiff, has no fever, vomiting, progressive intelligence and decreased activity, and is slow to develop.
2. After that, the muscle tension increased gradually, the cross legs, the body side twisted, the sputum sputum, the over-stimulation of hearing, sight, touch, etc., accompanied by convulsions and progressive mental exercise deterioration.
3. Late children developed further into blind, sputum and cachexia state, with spastic seizures and cortical rigidity, but no response to the surrounding, a small number of children may be associated with hydrocephalus, hyperthermia and hyperhidrosis, hairy and other signs, prognosis Very poor, often died within 1 year old, and it is rare to survive for more than 2 years.
Late-onset patients are rare, can develop convulsions after 5 to 6 years old, progressive cerebellar ataxia, optic atrophy, early dementia and pyramidal tract signs positive, late growth can survive to about 10 years old.
Examine
Examination of Krabble's disease
1. The cerebrospinal fluid examination protein increased significantly.
2. Lack of galactocerein beta galactosidase activity in serum cultured fibroblasts.
3. The EEG is a non-specific slow wave or a focal slow wave.
4. Brain CT, MRI scan showed increased symmetry density of bilateral internal capsule and basal ganglia.
5. EMG examination showed denervation and slowing of sensory nerve conduction velocity.
Diagnosis
Diagnosis and identification of Crabbe disease
The typical symptoms provide a reference for clinical diagnosis, and the lack of galactocerein--galactosidase activity in fibroblasts and serum cultured fibroblasts is detected, which is the main basis for diagnosis.
Note the identification of common hereditary nervous system diseases such as sphingomyelinosis, infantile Gaucher disease, Tay-Sachs disease, and Farber disease.
