West Syndrome

What is the life expectancy of West syndrome? All the information about this disease: symptoms, causes, prognosis, and treatments.

Symptoms and Causes

West syndrome is an age-dependent epileptic encephalopathy that usually manifests before the first year of life. It is a rare neurological disease belonging to the group of catastrophic epileptic encephalopathies. These infantile spasms are a special type of epileptic seizure with a poor prognosis.

Regarding its causes, the following types of West syndrome exist:

Symptomatic West Syndrome: There is an underlying anomaly or lesion in the brain.
Cryptogenic West Syndrome: The existence of such an anomaly is suspected, but it cannot be evidenced.
Idiopathic West Syndrome: Although the International Classification of Epilepsies and Epileptic Syndromes does not recognize this etiology, several authors use this term for cases that do not present underlying factors but have some genetic predisposition.

Symptoms

The set of characteristic symptoms of West syndrome constitutes an electro-clinical triad:

Spasms: Brief and sudden contractions that usually occur symmetrically on both sides of the body.
Typical Seizures: These are usually flexor spasms that affect the neck, trunk, and upper limbs (the child bends forward with arms crossed over the chest). Although much less frequent, extensor spasms can also occur: the neck and trunk extend, and the limbs spread in a cross shape. However, it is common for seizures to be mixed and combine both types.
Atypical Seizures: These may present with head jerks, brief abdominal contractions, shoulder elevation, arm adduction, and, exceptionally, absence of movement and decreased reactivity. These signs are more subtle, so they may go unnoticed or be misinterpreted.
The patient may experience both types of seizures, which can be accompanied by other phenomena such as screams, crying, strange smiles or grimaces, eye deviation, or altered breathing and heart rate.
Psychomotor Delay or Regression: Mood changes, loss of visual tracking and object grasping, muscle weakness, lack of response to the environment and external stimuli, loss of facial expression, motor immobility, and developmental stagnation.
Hypsarrhythmias in the Electroencephalogram: A pattern characterized by disorganized, asynchronous, and high-amplitude brain waves is observed.

Causes

The identified causes of symptomatic West syndrome can be of three types:

Prenatal Causes: The most common. Disorders arise during the gestation process. The most frequent are brain malformations and encephalic infections, genetic disorders like tuberous sclerosis, metabolic diseases, or chromosomal abnormalities such as Down syndrome.
Perinatal Causes: Disorders arise between the 28th week of gestation and the first 7 days of life. These include hypoxic-ischemic encephalopathy and focal lesions resulting from cerebrovascular accidents.
Postnatal Causes: The least common. Meningitis, hyperglycemia, intracranial hemorrhages, and encephalitis predominate.

Risk Factors

One of the main factors that increase the risk of developing this disease is the presence of a family history of genetic disorders that may cause the syndrome. Additionally, certain circumstances have been observed in which West syndrome has a higher incidence:

It usually appears between the fourth and seventh month of life, especially in the sixth month.

It tends to be slightly more common in males.

Complications

West syndrome generally has a severe prognosis, and serious complications often arise, especially in symptomatic cases. Although the infantile spasms and abnormal electroencephalogram pattern typically disappear between three and four years of age, many cases will develop:

Severe neurological and psychomotor sequelae.
Severe epilepsy.
Autism spectrum disorder.
Behavioral disturbances.

In some cases, patients may lose their lives before the age of three, primarily due to pneumonia or SUDEP (Sudden Unexpected Death in Epilepsy).

Prevention

Currently, it is not possible to prevent West syndrome, although seizures can be avoided with treatment.

What Doctor Treats West Syndrome?

Pediatricians and pediatric neurologists evaluate and treat this disease. However, occupational therapists and specialists in physical medicine and rehabilitation will manage the recommended therapies to improve cognitive development.

Diagnosis

Early diagnosis of West syndrome is crucial for a good prognosis. Once the characteristic spasms and psychomotor delay are observed, the following diagnostic tests will be performed:

Electroencephalogram to detect the typical hypsarrhythmia of West syndrome and exclude other types of epilepsy or disorders that may be confused with infantile spasms.
Laboratory tests to determine if there are metabolic or genetic causes.
Imaging studies, such as MRI or CT scans, to identify underlying brain malformations or lesions.

Treatment

There is no cure for West syndrome, so the goal of treatment is to eliminate seizures and improve the patient's cognitive development. The main treatment options include:

Medication: Various types are usually used:

Vigabatrin: This anticonvulsant medication is usually the first option.
Adenocorticotropic hormone (ACTH): Used if there is a poor response to vigabatrin. It is very effective in reducing seizures, but its side effects can be severe.
Other corticosteroids, such as prednisone.
Other anticonvulsants, such as valproic acid.
Vitamins, such as pyridoxine. They are less effective than the previous medications but have milder side effects.

Ketogenic Diet: Several studies have shown that a strict high-fat, low-carbohydrate diet can reduce seizures.
Surgery: Considered as a last resort for patients who do not respond to previous treatments and show localized brain lesions.