Epilepsy is a common disease of pediatric nervous system. Due to the characteristics of the disease and long treatment cycle, about 30% of epilepsy is drug-resistant. It is difficult to achieve the goal of complete control only by drugs, and even some patients with other means are always difficult to control seizures. In view of this, many parents of children are afraid of epilepsy. So, why is the same epilepsy, some treatment smooth, some full of ups and downs? This may be related to the cause of epilepsy, different causes, often different prognosis.
As a child epilepsy doctor, I often tell parents or students that in the process of diagnosis and treatment of epilepsy, we should always pay attention to the etiological diagnosis of epilepsy. If we can find a certain cause, we can roughly understand the difficulty of drug treatment, cognitive impairment, prognosis and the possibility of drug withdrawal, And whether there are better treatments or solutions besides antiepileptic drugs.
Epilepsy can be divided into idiopathic epilepsy, symptomatic epilepsy and cryptogenic epilepsy. Idiopathic is often specific to its genetic susceptibility, such as some ion channel disease, neurotransmitter receptor gene mutation, etc. the cure rate of drugs can reach about 80%, and most of them have good prognosis. Symptomatic epilepsy refers to some diseases, or congenital or acquired, which leads to brain injury and brain structural heredity. Compared with idiopathic epilepsy and cryptogenic epilepsy, drug treatment is difficult, and some of them need surgical means and neural regulation therapy to control epilepsy, and the prognosis is relatively poor. Cryptogenic epilepsy refers to the current means of examination, can not find a clear cause of epilepsy, drug cure rate can reach about 70%, the prognosis is often good.
At present, the mainstream view divides the etiology of epilepsy into several parts: structure, heredity, infection, metabolism, immunity and others. In some aspects, there may be overlapping parts among them. The prognosis of different causes is different. For the causes that can be relieved, the prognosis is relatively good.
1. Structural causes, structural abnormalities of the brain caused by any reason can be the pathogenic factors of epilepsy. The more common localized cortical dysplasia (FCD), gray matter heterotopia, hippocampal sclerosis, megagyrus malformation, multifocal gyrus malformation, perforating malformation, neurofibromatosis, craniofacial angiomatosis, leukoencephalopathy, tuberous sclerosis, brain injury after encephalitis Brain trauma, brain tumor and so on, some are congenital factors, others are acquired factors, a considerable part of which may be drug-resistant epilepsy, and some can be solved by surgical means, such as FCD, hippocampal sclerosis, heterotopic gray matter, brain tumor, etc., and some of them have good postoperative outcomes. In view of this etiology, it is often necessary to improve the cranial MRI scan. If possible, thin-layer epilepsy sequence scanning and PETCT can be performed to find out whether there are structural abnormalities of the brain, so as to seek a new direction for treatment.
2. Hereditary etiology. It is reported in the literature that about 40% of epilepsy is genetically related, and some even report that the positive rate of genetic factor detection can reach 60%. Of course, it may be related to the selection of cases. But it is true that in the process of diagnosis and treatment of epilepsy, genetic factors can not be ignored, for some special diseases, the treatment will have a clear help. Here, I would like to give two examples. One of the children was about one year old, and it was difficult to control the seizure after repeatedly adjusting the use of antiepileptic drugs during one year of illness. After coming to our hospital, we reviewed the medical history and found that the glucose level in the early cerebrospinal fluid examination of the child was decreased. Therefore, we suspected that glucose transporter 1 deficiency syndrome might be possible, which was verified by genetic testing, Immediately adjust the direction of treatment, give children ketogenic diet treatment, soon after the termination of the seizure, gradually stop antiepileptic drugs, no more seizures. Another child was diagnosed with epilepsy in my hospital. Early antiepileptic drugs combined with vitamin B6 were treated successfully. After stopping B6, they recurred. In addition, they improved again. After considering pyridoxine dependent epilepsy, the seizure was terminated after the application of large dose B6, and the antiepileptic drugs were stopped without relapse. To cite these two cases, it means that genetic examination of epilepsy may be helpful for disease etiology, treatment and prognosis. If conditions permit, the relevant examination should be improved, especially when the treatment is not smooth.
3. Infection factors, it is easy to understand. Infectious diseases such as encephalitis, meningitis, brain abscess, septicemia, severe pneumonia, toxic bacillary dysentery and other infectious diseases directly or indirectly lead to brain injury. The degree of brain injury is different, and whether the injury can be recovered is all factors affecting the prognosis.
4. Immune factors. At present, immune factors are also one of the causes of epilepsy, such as autoimmune encephalitis, paraneoplastic syndrome, MOG encephalitis, fires, immune demyelinating diseases, etc. epilepsy can be the main clinical manifestation. When there are suspicious immune factors, relevant examinations should be completed, and some of the prognosis is poor.
5. Metabolic factors, which refer to genetic metabolic diseases, such as phenylketonuria, glutaric aciduria, methylmalonic acidemia, Niemann Pick's disease, Gaucher's disease, mitochondrial disease, adrenoleukodystrophy, mucopolysaccharidosis, glycogen storage disease and so on, most of which overlap with genetic factors and can be confirmed by metabolic screening or gene testing.
6. Others, at present, the above etiology can not be clear, is the possible cryptogenic epilepsy.
In short, in the treatment of epilepsy, we should always think about the etiological diagnosis of epilepsy, and should give etiological diagnosis as far as possible, because it is very important for the treatment and prognosis judgment, especially for drug-resistant epilepsy.
The last sentence to parents, let us fear, full of hope, work together to cure the disease, return the child a blue sky! Let's encourage each other.
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