Cryptogenic epilepsy is epilepsy for which the cause, despite testing, remains unknown. It is difficult to establish the nature of cryptogenic epilepsy, although it manifests itself symptomatically.
Forms of cryptogenic epilepsy:
- Lennox-Gastaut syndrome;
- West syndrome;
- Epilepsy accompanied by myoclonic-astatic seizures;
- Childhood epilepsy with absence seizures;
- Epilepsy with myoclonic absence seizures.
Story
In 1841, the English pediatrician William James West (1793–1848) wrote a letter to the editor-in-chief of the British journal The Lancet, where it was published. The letter was entitled: “On the specific form of infantile paroxysms.” William's son suffered from an unknown illness from the age of four months.
In the letter, Dr. West described his son’s seizures as “tilts.” The child bowed his head to his knees, and then his body completely relaxed. The attack could last up to 2-3 minutes and include up to 20 “tilts”, the intervals between them lasting only a few seconds. The doctor observed such attacks in the boy up to 3 times a day. In his letter, the pediatrician asked his colleagues for help. At the time of writing the letter, the boy was about a year old, and he could no longer acquire new skills and did not know how to move his limbs, never cried or laughed, looked indifferent, could not support his body in an upright position or hold his head on his own. By 11 months, the boy’s seizures began to resemble generalized tonic ones.
Over the next 100 years, epileptologists described syndromes similar to those described by West in children, and by the middle of the last century, about 70 similar cases had accumulated in the world literature. In the early 60s, neurologists first described the EEG pattern in children with paroxysms: hypsarrhythmia, that is, erratic high-amplitude asynchronous spikes and slow-wave activity. In 1964, the term “West syndrome” first appeared.
So what is this disease? West syndrome (WS) is an epileptic encephalopathy in children, manifested by a triad:
- Infantile spasms (IS). These are short, strong contractions of the muscles connecting the head to the spine and the muscles located along the spine (flexor, extensor, or mixed).
- Hypsarrhythmia - interictal changes on the EEG.
- Progressive impairment of cognitive, behavioral and neurological functions.
SV occurs in 2–6 cases per 10,000 newborns and accounts for up to 9% of epileptic syndromes in early childhood. Boys are more likely to suffer from West syndrome - up to 60% of the total number of patients.
Prof. Dr. Jörg Wissel, MD, FRCP
Neurological rehabilitation
Head of the Department of Neurological Rehabilitation and Physiotherapy, Department of Neurology and Rehabilitation Center
Specialization
- Neurological rehabilitation after stroke, traumatic brain injury and spinal cord injury
- Rehabilitation therapy for Parkinson's disease and dystonia
- Botulinum therapy
- Treatment of spasticity
- Neurological rehabilitation using intrathecal baclofen therapy and deep brain stimulation
- Author of more than 90 scientific publications, member of several expert commissions
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Forms
Officially, SV is divided into symptomatic (up to 85%), as well as cryptogenic and idiopathic forms (together up to 20%). But from a clinical point of view, the disease has only 2 forms, since there are practically no differences between the cryptogenic and idiopathic forms. The symptomatic form of West syndrome includes cases of the disease against the background of existing brain pathology or developmental disorders. Half of the children with the symptomatic form had a history of complicated intrauterine conditions: infections, metabolic disorders, genetic and chromosomal defects (Down syndrome, etc.), as well as impaired intrauterine circulation in the mother. Pathology of the birth period is less common. These are hypoxic-ischemic brain damage, trauma and other complications during childbirth. Postnatal causes of WS include infections, trauma, hypoxic-ischemic strokes, and tumors.
The cryptogenic, or idiopathic, form of the disease is diagnosed in children with West syndrome epilepsy for no apparent reason, with normal psychomotor development and without brain damage before the onset of the disease. This is a more favorable form of SV.
The pathogenesis of West syndrome is currently unknown. Patients have a shortened REM sleep phase (rapid eye movement phase), during which the EEG normalizes and the frequency of spasms decreases. In this regard, there is a version that with WS, dysfunction of serotonergic neurons involved in the formation of sleep cycles occurs in the brain stem. There are other hypotheses that involve genetic and immune disorders in young patients.
Prof. Dr. Bettina Schmitz
Neurology – Epilepsy
Head of the Department of Neurology
Specialization
- Epilepsy
- Differential diagnosis of non-epileptic paroxysms
- Long-term EEG - video monitoring
- Medical and non-medical care for paroxysms and complications associated with epilepsy
- Member of the British Medical Association
- Instructor and member of the European Academy for the Study of Epilepsy (EUREPA)
- Member of the Commission on Psychobiology and the International League Against Epilepsy (ILAE)
- Psychoorganic syndrome, World Federation of Societies of Biological Psychiatry (WFSBP)
- Video consultation
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Clinical picture
Most often, the syndrome debuts in children aged 4–6 months, and earlier symptoms are an unfavorable prognostic factor. Infantile spasms of West syndrome can occur with high frequency and be extremely varied - flexion of the body, vertical movements of the eyeballs, or eye movements similar to nystagmus, as well as “throwing up” of the arms like an oriental greeting, etc. One spasm lasts a fraction of a second, spasms grouped in series - up to 50 attacks in a series, the number of episodes per day - from one to several dozen. Often attacks develop upon awakening and falling asleep, and may be accompanied by moving the head or eyes to the side. Only half of the body may be involved in the spasm. The appearance of epilepsy attacks means a stop in the baby’s psychomotor development, and often a regression of acquired skills. In 1–2% of cases, spontaneous self-healing is possible.
Prof. Dr. Bruno-Marcel Mackert
Neurology
Head of the Department of Neurology
Specialization
- Internationally recognized specialist in stroke, peripheral nervous system diseases and clinical electrophysiology
- Author of over 40 original publications
- Board of Directors of the Berlin Stroke Society (BSA)
- Member of the Board of Directors of the Berlin Center for Stroke Research (CSB)
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Treatment
The most important goal of therapy is to completely stop or reduce the frequency of attacks and suppress hypsarrhythmia, which makes the normal development of the child impossible. Antiepileptic drugs in this case are ineffective. So is there a cure for West syndrome?
In 1958, the most important work on epilepsy and the effectiveness of corticotropin administration for infantile spasms was published in the European Journal of Neurology (authors L. Sorel and AA Duchamp-Boyol). ACTH helped in 50–90% of cases, and the cryptogenic form responded better to treatment than the symptomatic form. In a large Finnish study from 1980, the fatal complication rate of corticotropin therapy was 5% and the incidence of serious adverse events was 37%. The high risk of complications and low effectiveness of corticotropin in the symptomatic form of WS led to the need for further search for drugs to relieve spasms.
Other hormonal agents are now used: prednisolone, dexamethasone and tetracosactide. The latter drug is a synthetic polypeptide that has the properties of endogenous corticotropin and produces fewer complications than corticotropin itself. Over the past 20 years, the antiepileptic drug vigabatrin has proven itself. Susceptibility to therapy is 23–68%. The optimal dose and duration of treatment have not yet been determined for either vigabatrin or corticotropin and tetracosactide.
In addition, valproate and benzodiazepines are prescribed in the treatment of West syndrome. However, the complete disappearance of infantile spasms with these drugs occurs later than with treatment with steroids and vigabatrin. For a localized focus of epileptoid activity, surgical treatment is possible, but it is not effective in all cases.
The dynamics must be assessed by EEG monitoring, since during therapy, spasms can become subclinical, which are difficult to recognize without an EEG. In remission (a month without attacks), hypsarrhythmia may completely disappear, replaced by a normal EEG. But in 23–50% of cases of West syndrome, the prognosis is not very good - the disease transforms into other forms of epilepsy, which sometimes can only manifest themselves during puberty.
Conservative
As part of conservative therapy, our specialists use innovative techniques, use the latest generation drugs, the duration of administration and dosage of which are calculated individually. The main groups of drugs aimed at treating West epilepsy syndrome include:
- muscle relaxants;
- glucocorticosteroids;
- valproate group agents;
- adrenocorticotropic hormone;
- vitamins of group B6;
- immunomodulators.
Forecast
Since William West's letter to The Lancet, the prognosis for Westies has undoubtedly improved, but remains extremely grave. Unfortunately, the mortality rate from the disease itself or complications of its treatment during the first 3 years of life reaches 11% and over the past 40 years it has remained unchanged. Normal intellectual development is preserved in 9–28% of children. Normal or close to normal intelligence in cryptogenic and idiopathic forms is preserved more often - in 38-78% of cases, whereas in the symptomatic form - only in 2-18% of children. The prognosis of each child with West syndrome is extremely individual - the quality and length of life depends both on the form of the disease itself and on the timeliness and effectiveness of treatment.
Sources
- Kholin A. A., Mukhin K. Yu. West syndrome. Etiology, electro-clinical characteristics and differential diagnosis // Mukhin K. Yu., Petrukhin A. S., Kholin A. A. Epileptic encephalopathies and similar syndromes in children. M.: Art-Service Ltd (2011): 95–133.
- Gaponova O. V., Belousova E. D. Prognostic criteria for infantile spasms // Epilepsy and paroxysmal conditions 3.3 (2011).
- Temin P. A. et al. Infantile spasms and West syndrome // Diagnosis and treatment of epilepsy in children. M.: Mozhaisk-Terra. (1997): 287–354.
Prof. Dr. Jörg Müller
Neurology – Parkinson's, MS
Head of the Department of Neurology
Specialization
- Recognized international expert in Parkinson's disease, dystonia and tremor
- Neuromuscular diseases
- Multiple sclerosis
- Treatment using butolotoxin (dystonia, spasticity)
- Deep brain stimulation treatment
- Author of more than 70 scientific publications, is a member of international expert councils
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Prognosis of the course of the disease
The disappearance of the syndrome occurs by the age of three, while the damage caused to the psychomotor area persists in 70-80% of cases. Movement disorders persist in half of the cases. Only 5-10% of patients undergo minimal changes. More than half of those suffering from the syndrome experience transformation of the pathology into other forms of episyndrome. With genetic brain abnormalities, mortality in the early stages accounts for a quarter of cases.
The best prognosis is for patients who did not exhibit delayed psychomotor development before the onset of spastic symptoms. About 45% of children who have suffered an anomaly retain full intellectual abilities. Timely diagnosis and correct treatment are important.
Diagnostic methods
When diagnosing an anomaly, neurologists pay primary attention to three main areas of symptoms: short-term spasms, mental retardation, age of primary manifestations. If symptoms appear later than the first year of life, doctors need to rule out other diseases with similar manifestations. A pediatrician, an epileptologist and a geneticist join the work of the neurologist.
Instrumental methods for fixing the disease include:
- EEG. Measurements are taken both during wakefulness and during sleep. The presence of West syndrome is indicated by the disorder of the signature, the undulation of the graph both during physical activity and in a state of complete rest.
- Computer scanning. It is rarely carried out, since it cannot always detect the boundaries of damage to cerebral structures.
- MRI of the brain. It is the most informative way of diagnosing. It can be carried out several times in the process of monitoring the excitability of the GM cortex. The technique is the safest for young patients. It does not require lengthy preparation and is painless.
If the child has the above-described signs of the disease, the attending specialist will refer you to undergo magnetic resonance imaging. To quickly find a diagnostic center, a detailed list of tomography clinics has been created and posted on the Mrt-v-msk portal. On its pages you can find a medical organization in any area of the city, compare ratings, prices for procedures, read reviews, and leave your own assessment. Registration for diagnostics in any clinic is carried out by calling the hotline located at the top of the mrt-v-msk page. Consultants will guide you to the nearest medical centers, announce prices, and book free time for the session.
