Infantile spasms

Introduction to infantile spasms Infantile spasm (infantilespasm) is also known as West syndrome, nodding epilepsy, myoclonus episodes, and big knife-type convulsions. There are many synonymous names for this symptom, such as salaam convulsion, spasmsalutation, ticsalutation, eclampsianutation, electric shock - nod - ritual convulsion (blitz-nick- Salaamconvulsion with two points of pfe), electric shock-like convulsions (blitzkrieg convulsion), systemic flexile epilepsy, flexion snoring, anterior flexor episodes, infants with anterior flexion, seizures, convulsions, abnormal rhythm Infant myoclonic encephalopathy, etc., is a serious, age-related cryptogenic or symptomatic, systemic epilepsy syndrome with early onset, special convulsions, post-operative mental retardation, EEG An epilepsy characterized by a peak rhythm disorder. basic knowledge Sickness ratio: 5% Susceptible people: children Mode of infection: non-infectious Complications:

Causes of infantile spasms

(1) Causes of the disease

Due to the progress of diagnosis and treatment technology, the cause of this disease is increasing. The cause of cryptogenic infantile spasm (10%~15%) is unknown, there are no other signs of central nervous system dysfunction, and symptomatic infantile spasm (85%-90%) It 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, brain malformation and inborn metabolic disorders. The most common cause after birth is Infection, cerebral hypoxia and head trauma, 73% of 71 children with this disease were found to have abnormalities, including brain atrophy (49%), congenital abnormalities (18%), hydrocephalus (6%), It has been reported that more than 20% of patients with brain malformation, calcification, and tuberous sclerosis have developed this disease. In recent years, congenital cytomegalovirus infection, toxoplasmosis infection, rubella, and herpes simplex have all been caused, the domestic and ancestral analysis The cause of 146 cases of symptoms, 26% of the primary, the remaining symptoms, including prenatal factors such as phenylketonuria, head deformity, cerebral palsy, Down syndrome and head deformity, congenital brain hypoplasia; The factors of birth time are intrauterine and intrapartum asphyxia, birth injury; The combined factors of infectious diseases encephalopathy, encephalitis, meningitis and brain trauma, vaccinations and so on.

(two) pathogenesis

1. cryptogenic infantile spasm: refers to no other cause of finding, according to current knowledge and technology can not find structural or biochemical reasons, with the deepening of understanding and advances in diagnostic technology, there will be more and more The cryptogenic infantile spasm finds abnormalities in brain function or anatomy to elucidate its etiology.

2. Symptomatic infantile spasm: Caused by known brain lesions, including brain organic, structural lesions, 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, Protozoal, parasitic and fungal infections; cerebrovascular diseases such as intracranial hemorrhage, thrombosis, embolism, cerebral vasculitis, arteriovenous malformations, aneurysms, etc.; cerebral edema, encephalopathy, increased intracranial pressure; brain trauma, craniocerebral Injury; brain tumor, hamartoma, etc.

(2) Hypoxic brain damage: diseases that cause hypoxia, such as heart, lung disease; 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 Symptoms; vitamin deficiency, such as vitamin B6 dependence; liver, kidney disease; hypertensive encephalopathy; endocrine dysfunction.

(4) Poisoning: drugs, metals, other chemicals, such as lead, sputum, isoniazid, convulsions, steroids and other poisoning; drug break syndrome, such as sudden withdrawal of anticonvulsant drugs caused by status epilepticus.

Infant snoring prevention

The prevention of this disease should pay attention to the following aspects:

1. Pay attention to perinatal care: Protect the fetus and newborn from hypoxia, birth injury, infection, etc., especially to prevent neonatal asphyxia and hypoxic ischemic encephalopathy.

2. Active prevention and treatment of febrile seizures: Pay enough attention to the febrile seizures in infants and young children, try to prevent seizures;

3. Actively prevent various diseases of the nervous system in children: timely treatment and reduce sequelae.

4. Prevention of biochemical metabolic disorders.

5. Do a good job in 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.

Infantile complications Complications

The main complications are mental developmental disorders, physical growth retardation, spastic paralysis, quadriplegia, and microcephaly.

Infantile symptoms of snoring Common symptoms Myoclonus mental retardation sputum - tonic nod sign pediatric leg cramps

The onset is within 1 year old and the peak is 4 to 7 months.

1. Characteristics of sputum episodes: Typical episodes are sputum-like or nodding. It has also been observed that the disease has multiple forms of seizures, such as buckling-overextension, the most common type, other flexion, hyperextension, myoclonus , loss of tension or tonicity, one side, atypical absence and other seizures.

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 hypokinetic development, EEG is peak rhythm disorder, continuous high amplitude is not synchronized, asymmetric slow wave, mixed with multi-focal sharp waves and spikes, EEG can be several seconds Flat fast wave, a small number of infantile spasms, with a side peak rhythm disorder of EEG, seen in children with severe hemispheric injury, the cause of infantile spasm is mostly symptomatic, may have early developmental disorders Such as metabolic diseases, brain developmental malformations, neurocutaneous syndrome (nodular sclerosis, etc.) and infections, and more than 80% of imaging examinations can show abnormalities such as brain atrophy and deformity, and 10% to 20% are idiopathic. There is no cause and the prognosis is good. The differential diagnosis is mainly distinguished from benign myoclonus epilepsy in infancy. The latter has a typical systemic myoclonus attack, but the intelligence is normal, and the EEG has less The amount of spine is slow, the attack is easy to control, and it stops before the age of 2, and the prognosis is good.

2. Intellectual change: 60% to 70% of infants with mental retardation at the onset of infantile spasm can be increased to 85% to 90% at the age of 2 years. No matter whether there is mental retardation before the illness, once the sputum occurs, the intelligence appears one after another. Developmental disorders.

Examination of infantile spasms

Cerebrospinal fluid changes: In 1984, Siemes et al found that the protein content and composition of cerebrospinal fluid in children with pediatric cerebrospinal fluid changed similarly to aseptic meningitis, mainly due to the increase of albumin and the decrease of other proteins, suggesting that the blood-brain barrier permeability of children increased. This is related to systemic persistent epilepsy activity, and others have found a decrease in gamma amino acid levels in cerebrospinal fluid, which increases sensitivity to convulsions.

1. EEG changes: The EEG of this symptom has a special peak rhythm disorder, and there are various variants of the peak rhythm EEG. Some have normal EEG when awake, and explosive suppression when falling asleep. EEG, which is common in small infants, shows that the peak out-of-law EEG disappears within weeks or months after treatment with hormones or anti-epileptic drugs.

2. CT examination abnormalities: Among the 69% of children who underwent CT examination, local brain atrophy (35%), extensive brain atrophy (15%) and congenital malformation (19%) were found. There were a group of 300 infantile sputum skulls in China. The results of brain CT examination showed that 82% of brain damage was mainly caused by brain atrophy, and it was related to etiology, lesion, nature and age.

Diagnosis of infantile snoring

diagnosis

According to the characteristics of infantile spasm, the EEG peak rhythm disorder, the mental motor development disorder at the initial onset can make a diagnosis of this symptom.

Differential diagnosis

The diagnosis of this disease is generally not difficult, mainly related to other syndromes occurring at the same age.

1. Lennox-Gastaut syndrome (LGS): The age of onset is usually between 1 and 8 years old, with a preschool age as the peak. The main symptoms are:

1 intelligent reduction;

2 is not typical of loss;

3 axial tension episodes (upward head, nodding or whole body), if a baby develops within 3 months after birth, and there are 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: The 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 normal interval are normal.

3. Early myoclonic encephalopathy with early onset: This disease usually occurs within 3 months after birth, first for continuous myoclonus, then for eccentric partial seizures, a large number of myoclonus or Tonic sputum, EEG is characterized by inhibition-burst activity, can progress to a high rate of loss of rhythm, serious condition, stagnant mental development, can die in the first year.

4. Aicard syndrome: The disease is female, with sputum and special EEG (often asymmetric inhibition - outbreak), corpus callosum loss, retinal detachment and spinal deformity.

5. Myoclonic-cataplectic epilepsy (myoclonic-cataplectic epilepsy): The disease begins in 7 months to 6 years old, mostly in the 2 to 5 years old, except for the one year old, the boy is twice as many as the girl, developing Normal, hair as myoclonic, tripping, myoclonus - tripping, lack of myoclonus and tonic components, as well as tonic-clonic seizures, often epileptic state, tonic episodes are seen in the late stages of poor prognosis EEG starts normal, only 4 ~ 7Hz rhythm, after which there may be irregular fast spine - slow wave, or spine - slow wave, irregular 2 ~ 3Hz spine - slow wave in the epileptic state, disease course and prognosis indefinite.

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