Excessive response to auditory, visual, tactile and other stimuli
Introduction
Introduction Excessive stimuli such as hearing, sight, and touch are one of the manifestations of Crabbe disease. Krabbe disease was first reported by the Danish pediatrician Krabbe in 1916, hence the name Krabbe disease, which is also called autosomal recessive according to its clinical features, also known as infantile familial diffuse sclerosis. Inherited metabolic disease, the mutated 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. Infants are often ill within 1 year of age. Late-onset people can survive to around 10 years old.
Cause
Cause
(1) Causes of the disease
The disease is autosomal recessive, and the mutation gene is located at 14p. The genetic defect of the child, the lack of galactocerein--galactosidase in the body, leads to the deposition of many galactocerebrosides in the white matter.
(two) pathogenesis
Lack of galactocerein--galactosidase due to 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. There are many galactosylglucoside deposits in the cells, the cytoplasm is irregular, contains several nuclei, and has a sliding surface. The texture network and many free ribosomes. In addition, the white matter is clearly demyelinated, secondary to astrocytes and gliosis.
At the same time, the peripheral nerves of the white matter are involved, and the peripheral nerves of the neuronal cells (Schwann cells) can also be involved, with segmental myelin loss, interstitial hyperplasia and other lesions. The optic nerve can be equally affected. However, peripheral axons are often well maintained.
Examine
an examination
Related inspection
Electromyography neurological examination
Crabbe disease was first reported by the Danish pediatrician Krabbe in 1916, when it was called familial diffuse sclerosis and later called Krabbe disease. The disease also has experts who claim to be classified as a neurological organelle disease, a lysosomal disease.
Clinically, according to the age of onset, it can be divided into two types: infant type and late hair type. Infant Krabbe disease is the main type, and the typical clinical manifestation is divided into three stages:
1. The baby is normal at birth, and occurs within weeks to months after birth (more than 3 months, 10% after 1 year). The common feature is that the child is extremely excited and frightened, has no incentive to cry frequently, has a stiff body, has no fever, vomiting, has sexual intelligence and decreased activity, and develops slowly.
2. After that, the muscle tension increased gradually, the cross legs, the body side twisted, the sputum sputum, excessive response to hearing, visual, tactile and other stimuli, accompanied by convulsions and progressive mental exercise deterioration.
3. Late children develop 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, high fever and sweating, hairy and other signs. The prognosis is extremely poor. Often died within 1 year of age, and it is rare to survive for more than 2 years.
Late-onset patients are rare, with convulsions, progressive cerebellar ataxia, and optic atrophy after 5 to 6 years of age. Early dementia and pyramidal tract signs were positive. Late-onset people can survive to around 10 years old.
Typical symptoms provide a reference for clinical diagnosis. The lack of galactocerein--galactosidase activity in fibroblasts and serum cultured fibroblasts was detected as the main basis for diagnosis.
Diagnosis
Differential diagnosis
Differential diagnosis of excessive response to hearing, vision, and touch:
1. Sensitive to sound: Neurasthenia is a neurosis characterized by weak brain and physical function. It is characterized by being easy to be excited and prone to fatigue. It is often accompanied by symptoms such as nervousness, trouble, irritability, and other physiological symptoms such as muscle tension pain and sleep disorders. These symptoms are not secondary to physical illnesses and brain organic lesions, nor are they part of any other mental disorder. However, patients may have persistent emotional stress and mental stress before their illness.
2. Excessive feeling: It is because of the influence of the lesion that the stimulus must reach a strong level to be perceived. Patients usually only perceive strong pain stimuli and warm stimuli. There is a period of incubation between the beginning of the stimulus and the perception. As for the location and the nature and extent of the stimulus, it is often not correctly pointed out.
3, feeling allergies: that is, feeling enhanced. Feeling a decrease in threshold or a strong emotional factor. The clinical manifestation is that the patient's response to general intensity is particularly strong and sensitive, and it is unbearable. If you feel the sun is particularly glaring, the sound is particularly harsh, and the slight touch of the skin feels painful. More common in the thalamus or peripheral neuropathy, psychiatry in neurasthenia, snoring, suspected, menopausal syndrome.
4, mental allergy: mental allergy is also called psychological allergy, nervousness. It means that some people have a special aversion to special things, and they feel particularly uncomfortable when they are in contact. Just like allergic people are exposed to allergens. If you are light, you will feel bad about yourself; if you are serious, you will be suspicious. It will seriously damage the human spirit and make it difficult to live happily like a normal person.
