Introduction:
Infantile spasm(infantile spasm), also known as West syndrome, noddingepilepsy, myoclonic episodes, big knives type convulsions: the syndrome has a lot of synonymous names, such as salaam convulsion, spasm salutation, tic salutation, nodding (eclampsia nutation), electric shock - nod - ritual convulsion (blitz-nick-salaam convulsion with two points of pfe), electric shock-like convulsion (blitzkrieg convulsion), systemic flexile epilepsy, flexion snoring, low flexion Attack, infants with anterior flexor type, flashing convulsions, infantile myoclonic encephalopathy with abnormal rhythm. It is a serious, age-related cryptogenic or symptomatic, systemic epilepsy syndrome. It has an early onset age, a special form of convulsion, mental retardation after illness, and an electroencephalogram characterized by a peak rhythm disorder.
Cause:
(1) Causes of the disease
Due to the progress of the diagnosis and treatment technology, the cause of the disease has been found to be increasing. The cause of cryptogenic infantile spasm (10% to 15%) is unknown, and there are no other signs of central nervous system dysfunction. Symptomatic infantile spasm (85% to 90%) is characterized by previous signs of brain damage or a clear cause. The most common cause (78%) is cerebral ischemia and hypoxia, brain hypoplasia, intrauterine infection, and brain malformation. And innate metabolic disorders. The most common causes after birth are infection, cerebral hypoxia and head trauma. Some 71 patients with this disease were found to have abnormalities by 73%, including brain atrophy (49%), congenital abnormalities (18%), and hydrocephalus (6%). Brain malformations and calcification have also been reported. More than 20% of patients with tuberous sclerosis develop this disease.
In recent years, it has been found that congenital cytomegalovirus infection, Toxoplasma infection, rubella, and herpes simplex can cause this disease. Domestic and ancestors analyzed the cause of 146 cases of this disease, 26% were primary, and the rest were symptomatic, including prenatal factors such as phenylketonuria, head deformity, cerebral palsy, Down syndrome and head deformity. Congenital brain hypoplasia; birth factors include intrauterine and intrapartum asphyxia, birth injury; postnatal factors with infectious diseases combined with encephalopathy, encephalitis, meningitis and brain trauma, vaccination.
(two) pathogenesis
1. Cryptogenic infantile spasm refers to no other cause for finding, and structural or biochemical reasons cannot be found based on current knowledge and technology. With the deepening of understanding and the advancement of diagnostic techniques, more and more cryptogenic infantile spasms will find abnormalities in brain function or anatomy to clarify the cause.
2. Symptomatic infantile spasms are caused by known brain lesions, including organic, structural lesions of the brain, or biochemical metabolic disorders. Can be divided into the following categories:
(1) brain lesions: brain developmental malformations, such as neural tube development disorders, cerebral neuronal migration disorders, gray matter ectopic, cerebral gyrus deformity, hydrocephalus, etc.; cerebral development disorders caused by chromosomal diseases and congenital metabolic diseases; brain Degenerative diseases and demyelinating diseases, such as leukodystrophy, etc.; neurocutaneous syndrome; central nervous system infections, such as various encephalitis, meningitis, brain abscess, congenital infection, cerebral cysticercosis and others due to viruses, bacteria, Infections caused by protozoa, parasites and fungi; cerebrovascular diseases such as intracranial hemorrhage, thrombosis, embolism, cerebrovascular disease, arteriovenous malformations, aneurysms, etc.; cerebral edema, encephalopathy, increased intracranial pressure; brain trauma, craniocerebral production Injury; brain tumor, hamartoma, etc.
(2) Hypoxic brain damage: diseases that cause hypoxia, such as heart and lung diseases; asphyxia; shock; convulsive brain injury.
(3) metabolic disorders: congenital metabolic abnormalities, such as brain lipid deposition, abnormal glucose metabolism, abnormal amino acid metabolism, etc.; water and electrolyte disorders, such as hyponatremia, hypernatremia, hypocalcemia, low magnesium blood Symptoms; vitamin deficiency, such as vitamin B6 dependence; liver and kidney disorders; hypertensive encephalopathy; endocrine dysfunction.
(4) Poisoning: drugs, metals, other chemical substances, such as lead, sputum, isoniazid, convulsions, steroids and other poisoning; drug break syndrome, such as sudden withdrawal of anticonvulsant drugs caused by epileptic state.
symptom:
The onset is within 1 year old and the peak is 4 to 7 months.
1. The typical episode of seizures is sputum-like or nodding. It has also been observed that the disease has multiple forms of seizures, such as buckling-overextension, which is the most common, and other flexure, hyperextension, myoclonus, Loss of tension or tonicity, one side, atypical absence of seizures, etc.
The form of seizures is a series of tonic sputum, which is characterized by two arms forward, the head and trunk flexing forward, and a few cases extending to the dorsal side, repeated several times or even dozens of times, sometimes accompanied by shouting or smiling. 95% of cases have mental retardation. The EEG showed a peak rhythm disorder, which was a continuous high-wave amplitude unsynchronized, asymmetric slow wave, mixed with multi-focal sharp waves and spike waves. The EEG can have a flat fast wave for a few seconds. A small number of episodes of one-sided infantile spasm, accompanied by one-sided peak rhythm disorder of EEG, were found in children with severe hemispheric injury.
The causes of infantile spasms are mostly symptomatic, and may have early developmental disorders such as metabolic diseases, brain developmental malformations, neurocutaneous syndrome (nodular sclerosis, etc.) and infections. More than 80% of imaging examinations can show abnormalities such as brain atrophy and deformity. 10% to 20% is idiopathic, no cause can be found, and the prognosis is good. The differential diagnosis is mainly distinguished from benign myoclonus epilepsy in infancy, which has a typical systemic myoclonus episode, but the intelligence is normal, the EEG has a small number of spine slow waves, and the episode is easy to control. Stop before 2 years old. The prognosis is good.
2. Intelligence changes 60% to 70% of children with infantile spasm mental retardation, can increase to 85% to 90% when 2 years old. No matter whether there is mental retardation before the illness, once the sputum occurs, mental development disorders appear one after another.
diagnosis:
According to the characteristics of infantile spasm, EEG peak rhythm disorder, mental movement development disorder at the initial onset can make a diagnosis of this disease.
Identification
The diagnosis of this disease is generally not difficult, mainly related to other syndromes occurring at the same age.
1.Lennox-Gastaut syndrome(Lennox-Gastaut syndrome, LGS) The age of onset is usually between 1 and 8 years old, with a peak preschool age. The main symptoms are: 1 mental decline; 2 atypical loss; 3 axial tension episodes (upward, nodding or whole body). If a baby develops within 3 months of birth and has three main characteristics of infantile spasm, it is not difficult to diagnose infantile spasms. However, if the onset is after 1 year of age, then the most likely diagnosis is Lennox-Gastaut syndrome.
2. Benign myoclonus epilepsy This disease occurs in children with normal development between 6 months and 3 years old. It is characterized by systemic myoclonic convulsions, and other aspects of the cerebral interval are normal.
3. Early myoclonic encephalopathy with early onset This disease usually occurs within 3 months after birth. First is a continuous myoclonus, then a quirky partial seizure, a large number of myoclonus or tonic spasm. EEG is characterized by inhibition-fullining activity, which can progress to a high rate of arrhythmia, severe disease, stagnant mental development, and death in the first year.
4. Aicard syndrome (Aicard syndrome) The disease is a female onset with sputum and special EEG (often asymmetric inhibition - outbreak), corpus callosum loss, retinal detachment and spinal deformity.
5. Myoclonic-cataplectic epilepsy (myoclonic-cataplectic epilepsy) This disease begins in 7 months to 6 years old, mostly in the 2 to 5 years old. In addition to the onset of the disease within 1 year old, the boy is twice as likely as a girl, develops normally, and develops as a myoclonic, squat, myoclonus-stumping, a myoclonus and tonic component, and a tonic-clonic attack. , often epileptic state. Ankylosing episodes are seen in the late stages of poor prognosis. The EEG begins to be normal, with only 4 to 7 Hz rhythm. After that, there may be irregular fast spines-slow waves, or multiple spines-slow waves. In the epileptic state, there are irregular 2~3 Hz spine-slow waves. The course of disease and prognosis are uncertain.
complication:
The main complications are mental developmental disorders, physical growth retardation, spastic paralysis, quadriplegia, and microcephaly.
treatment:
Western medicine treatment
In recent years, more and more authors believe that early and intensive treatment of infantile spasms is very important for complete cure. The so-called complete cure means that all seizures stop, intelligence reaches normal or near normal.
1. Hormones It is currently widely accepted that the use of ACTH or oral steroids remains the most effective treatment, especially for secondary patients. However, the disadvantage of this therapy is that it is easy to relapse, and it is easy to cause infection, high blood pressure and electrolyte imbalance. When the diagnosis is established, hormones should be used as soon as possible, except for active infections. There are currently no standard treatment options.
(1) ACTH: The dosage is 25 U/d, intramuscular injection, and 4 to 6 weeks is a course of treatment. Other authors believe that the dose of ACTH can be increased, 40 ~ 80U / d, 1 or 2 intramuscular injection, 4 to 6 weeks of treatment, can be repeated several courses. If controlled, oral corticosteroids were given after 6 weeks, then gradually reduced, and completely removed after 2 months.
Rikonen was treated with ACTH in two groups. There was no significant difference between the two groups (120-160 U) × 6 weeks and low dose (20-40 U) × 4 weeks. It is considered safe to use a small dose of short course. Some children may relapse after discontinuation of ACTH or corticosteroids. In recent years, it is emphasized that the use of ACTH should pay attention to the presence of cytomegalovirus infection. Pre-treatment of congenital microcephaly, mental retardation, typical periventricular calcification, chorioretinitis, should be highly suspected of congenital cytomegalovirus infection, should be discontinued as soon as possible to use anti-epileptic drugs.
(2) Long-acting hormones: At present, long-acting hormones - indeed Du Xianzheng can also be used to treat infantile spasms, and good results can also be obtained. Methods: First use intramuscular injection of vitamin B6 0.1 ~ 0.4g daily for 7 days; after intramuscular injection of 0.015 ~ 0.025mg / kg with doudu injection, once / d, once every 10 days, changed to once every other day, For 10 days, reduce the amount to 10 times a week for 10 days, and finally once a week for 2 times, then completely deactivated.
Merge at the same timeVitamin B6. And choose anti-epileptic drugs according to the condition, such asClonazepam(clodroxetine) andSodium valproate.
2. Antiepileptic drugs commonly used nitrazepam (nitrodiazepine), clonazepam (chloronitrodiazepine), sodium citrate and so on. However, these drugs should not be used in combination with ACTH or corticosteroids, as there may be potential for antagonism.
3. Some people still use ketogenic diet therapy.
The above content is for reference only, please consult the relevant physician or relevant medical institution if necessary.
prevention:
The prevention of this disease should pay attention to the following aspects:
1. Pay attention to perinatal health care to protect the fetus and newborn from damage caused by hypoxia, birth injury, infection, etc., especially to prevent neonatal asphyxia and hypoxic ischemic encephalopathy.
2. Active prevention and treatment of febrile seizures should pay enough attention to the febrile seizures in infants and young children, try to prevent seizures;
3. Actively prevent the timely treatment of various diseases of the nervous system in children and reduce the sequelae.
4. Prevention of biochemical metabolic disorders.
5. Do a good job of genetic counseling For some serious hereditary diseases that cause epilepsy, genetic counseling can be carried out, and some can be used for prenatal diagnosis or newborn screening to determine the necessity of stopping pregnancy or early treatment.
简体中文