Epilepsy due to cerebral folate deficiency

Epilepsy due to cerebral folate deficiency is caused by the impaired supply of the substance 5-MTHF to the brain tissue, which in some cases causes the development of seizures. The pathology is associated with metabolic disorders and requires specific treatment aimed at eliminating the root cause.

Symptoms

Epilepsy against the background of CFD is accompanied by myoclonic seizures. Symmetrical asynchronous muscle twitches may extend to the whole body or to some of its parts (arms, upper torso). Sometimes the patient falls sharply during the paroxysm, after which the seizure ends and the patient stands up.

Some attacks are accompanied by an increase in body temperature. The patient also experiences increased fatigue and emotional exhaustion. The development of this form of disease in children is associated with a high risk of impaired physical and psycho-emotional development. Therefore, the slightest deviation in the child's well-being should be a reason to consult a specialist.

If you notice periodic muscle twitching in your child's body, do not hesitate to visit your doctor. In the initial stages and in early childhood, the pathology is best corrected, between the ages of 2-5 years, there is a high chance of recovery.

Reasons

This form of epilepsy develops against a background of cerebral folate deficiency, which is due to a genetic factor and is often associated with serious metabolic disorders in the body. For example, CFN can accompany Kearns-Seyre syndrome and other mitochondrial dysfunctions. In this case, there is impaired transport of folate through the vascular system, which leads to impaired absorption and, consequently, deficiency.

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Diagnostic methods

At VIVERE, when epilepsy is suspected to be due to cerebral folate deficiency, each patient undergoes a comprehensive examination. It allows you to determine the form and cause of the pathology, to identify the triggers for the onset of seizures, as well as to choose an effective treatment.

The study includes:
    • comprehensive laboratory diagnostics;
    • FRAT;
    • MitoSwab.

Our specialists look for the cause of epilepsy to treat it and thus achieve a sustained remission or even complete recovery if this is possible in a particular clinical case.

Prevention

To reduce the risk of epilepsy due to cerebral folate deficiency in children, pregnancy planning and its correct management can help. It is also recommended to detect and correct metabolic disorders in a timely manner.

Treatment

  • To begin treatment, VIVERE CLINIC specialists first look for the cause of the pathology in order to act on the mechanism of its occurrence. In most cases, medications are prescribed. Drugs are chosen to replenish folate deficiency, improve metabolic processes, normalize brain functions, etc.
  • Our patients receive lifelong support from a specialized neurologist-epileptologist. Treatment can take place on an outpatient basis or in a day hospital.
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Recommendations

Epilepsy caused by CFD requires mandatory therapy and monitoring of the patient's condition to reduce the frequency of seizures and prevent irreversible changes in the brain. Timely therapy can significantly improve the patient's quality of life, so you should make an appointment with your doctor when you see the first signs.

Cost

The price of diagnosis and treatment in our clinic depends on the list of necessary services and is determined individually for each patient.
To schedule, your initial consultation with VIVERE CLINIC call us or leave an online request online and our manager will contact you.

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Людмила

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Оксана

Świetny zespół pielęgniarki znajdują żyły których nie widać ,w mgnieniu oka, lekarze nie leczą objawów tylko chorobę co już w Polsce się rzadko zdarza. Każda diagnoza była konsultowana z lekarzem i szefem kliniki. Logistyka super z niczym nigdy nie było problemu we wszystkim pomagano nam od samego początku. Co najważniejsze nikt nie boi się ( ..ovid 19) co w tych czasach świrusa jest rzadkością. Klinika na wysokim poziomie sami specjaliści w swojej dziedzinie. My widzimy ogromne postępy w zachowaniu naszej autystycznej córki.

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