Epilepsy patients with hereditary tuberous sclerosis

Most people think that epilepsy is not a very serious disease because it will not cause so much harm. But in fact, epilepsy is also somewhat hereditary, and even tuberous sclerosis may occur. To determine whether these types of diseases are hereditary, it is best to have a systematic examination before having a baby.

Treatment

This disease is an autosomal dominant hereditary disease. Paying attention to premarital examinations, prenatal examinations and prenatal counseling has a certain effect on the occurrence of this disease. There is currently no other effective prevention method.

;Western medicine treatment methods for tuberous sclerosis

1. If the EEG results show that the patient has a constant single localized epileptiform discharge, surgical resection of the cortical or subcortical tubercle can be used to achieve the treatment goal;

2. Patients with intellectual disabilities can choose Sanlexi 0.1-0.2 3/d, Naofukang 0.4-0.8 3/d, and Chinese medicine Pushen Yizhi capsule 2 capsules 3 times/d for symptomatic treatment;

3. For infantile spasms with high-amplitude arrhythmia, adrenocorticotropic hormone (ACTH) and chlordiazepoxide can be tried for treatment.

(1) When the signs of epilepsy appear, the first thing to do is to protect the tongue. Before the onset of an attack, place a gauze-wrapped compression plate between the patient's upper and lower molars to prevent the tongue from being bitten. If the compression plate is not inserted before the onset of an attack, wait until the patient opens his mouth during the tonic phase before inserting it. Do not force the compression plate into the patient's mouth during the clonic phase to avoid injuring the patient.

(2) During the attack, the patient should lie flat, loosen the collar, and turn the head to one side to facilitate the discharge of respiratory secretions and vomitus and prevent them from flowing into the trachea and causing choking and suffocation. During a major seizure, there will be more respiratory secretions, which can easily cause respiratory obstruction or aspiration pneumonia. During convulsions, do not put anything in the mouth or force medicine to prevent suffocation.

(3) Convulsions in epileptic patients are caused by excessive discharge of the brain. Once an attack occurs, it cannot be controlled and the convulsion can only stop when the discharge stops.

Diet and health care

Avoid spicy and irritating foods in your diet, quit smoking and drinking, avoid overeating, eat more soy products, fresh fruits and vegetables, dairy products, and high-protein and phospholipid-rich foods.

Preventive Care

This disease is an autosomal dominant hereditary disease and there is no effective preventive measure. Paying attention to premarital and prenatal examinations can play a certain role in preventing the occurrence of this disease.

Pathological etiology

It is known that both genes of TSC are tumor suppressor genes, and their function is to regulate cell growth and differentiation. When the two genes mutate, they lose control of cell growth regulation, resulting in tumor formation. Some TSC hamartoma patients show loss of heterozygosity. The markers of 9q34 or 16p13 in TSC patients are heterozygous, but homozygous in tumors. The loss of heterozygosity indicates that TSC patients have a missing gene copy through inheritance or early embryonic gene mutation, and will only develop the disease when the previous normal copy has a somatic mutation.