West syndrome (infantile spasms): signs and symptoms, etiology, epidemiology, diagnosis, and treatment

West syndrome, also known as infantile spasms, nodding eclampsia, etc.

First, the general overview

West syndrome is a group of symptoms

2.

Symptoms associated with West syndrome usually begin in the first year

Babies with West syndrome also have very abnormal electroencephalograms (EG), with high amplitude, chaotic spike patterns (low rhythm disorders

As they age, about one-third of children with West syndrome may develop recurrent seizures

3.

Approximately 70-75% of affected people can identify a specific cause of

The most common condition that causes West syndrome is tuberous sclerosis

X-linked West syndrome can be caused

Female carriers with X-linked disease have a 25% chance of having a carrier daughter like themselves per pregnancy, a 25% chance of having a non-carrier daughter, a 25% chance of having a son with the disease, and a 25% chance of having an unaffected son

4.

West syndrome is a rare neurological syndrome that can affect both men and women

It is estimated that 0.

5.

Symptoms of the following conditions may be similar

1.
Epilepsy is a group of neurological diseases
characterized by abnormal discharge of the brain.
It is characterized by loss of consciousness, convulsions, spasms, sensory confusion, and autonomic nervous system disorders
.
A "aura" usually appears before the seizure, i.
e.
a feeling of restlessness or feeling unwell; Aura marks the beginning
of a seizure in the brain.
There are many different types of epilepsy, the exact cause of which is usually
unknown.
Epileptic spasms are a type
of epilepsy.

2.
Lennox-Gastaut syndrome (LGS) is a rare form of epilepsy that usually becomes apparent
in infancy or early childhood.
This disease is characterized by seizures and, in many cases, an abnormal delay in the acquisition of skills that require the coordination of mental and muscular activity (psychomotor delay).

People with this disorder may experience several different types of seizures
.
Lennox-Gastaut syndrome may be caused by or associated
with a number of different underlying conditions or conditions.
See details: Lennox-Gastaut Syndrome: Signs and Symptoms, Etiology, Epidemiology, Diagnosis, and Treatment

3.
Myoclonic seizures can be seen in many types of epilepsy, from infantile myoclonic epilepsy to Dravet syndrome or myoclonic resting epilepsy, and are often confused
with infantile spasms.
These types of seizures are rapid twitches in the arms and legs, faster than infant spasms, and sometimes occur alone, rather than often in groups of epileptic cramps
.

Because epileptic cramps are very mild seizures, accompanied by small, brief movements of the trunk or arms, it is easy to misdiagnose as gastroesophageal reflux, constipation, behavioral, and other types of non-neurological disorders
.

Myoclonus is a neuromotor disorder in which there is a sudden involuntary muscle contraction
.
There are many different types of myoclonus, including some hereditary
.
Other causes include hypoxia, viruses, malignancies and central nervous system lesions, as well as drug and metabolic disorders
.

4.
Tuberous sclerosis (tuberous sclerosis) is mostly autosomal dominant, both men and women can suffer from the disease, and all lines of the body can be affected
.
Featured by facial sebaceous adenoma, seizures, and mental decline
.
Intracranial calcifications and upper ventricular wall calcifications are seen on X-ray of the skull, candle tears of the ventricular wall are seen on pneumocerebral angiography, and multifocal nodes and low-density changes or calcifications are seen in skull CT and MRI
.
See details: Tuberous sclerosis: signs and symptoms, etiology, epidemiology, diagnosis, and treatment

5.
Microcephaly is caused by
harmful environmental factors in the fetal period.
There are brain and skull and developmental disorders, after the completion of development of the brain weight does not exceed 1000 grams, the maximum circumference of the skull does not exceed 47 cm, the frontal and occipital parts are flat, narrow, the top is slightly pointed, and the well-developed facial bone forms a strong control
.
The scalp is thickened and the hair is thick.

Most of them are short in stature, and their intelligent development stops at the stage of
idiocy.

6.
Phenylketonuria is autosomal recessive and is an amino acid metabolism disease
.
Characterized by low intelligence and seizures, babies are usually normal at birth, gradually decrease in IQ after 1 to 6 months, and special odors such as musty or "rat" odors can be smelled in the body or clothing, and IQ declines rapidly after 6 months, and seizures manifest as infantile spasms or other forms of seizures
.
Plasma phenylalanine above 200 mg/ L is diagnostic
.
See: Phenylketonuria: Signs and Symptoms, Etiology, Epidemiology, Diagnosis, and Treatment

6.
Diagnosis

appraise

The first step is to characterize patterns of brain activity by using various devices to make measurements
.
These include:

Electroencephalogram (EEG):
This is a painless and non-invasive method
of recording patterns of electrical activity in the brain.
Electrodes are placed on the scalp and radio waves are picked up and recorded during activity, fortunately during
sleep.
If a pattern called hyperrhythmic disorders is noted, especially during sleep, this may help indicate that the patient has epileptic cramps
.
However, sometimes patients may have epileptic cramps and do not have a hyperarrhythmic pattern due to the lag time between clinical symptoms and EEG patterns
.
In addition, there are several diseases that can mimic epileptic spasms, and long-term video EEG can confirm the diagnosis of epileptic spasms
.
Therefore, in the setting of epileptic spasms, long-term video EEG monitoring at night is preferable to regular 20-minute EEG studies
.

Brain scans, such as computed
tomography
(CT).
X-rays from a computer can be used to generate a cross-section of the brain, from which details
of development can be determined.
CT is also very good at showing areas of calcification that may be critical to diagnosis in certain circumstances
.
However, this does not provide a picture
as detailed as MRI.

Magnetic resonance imaging (MRI
).
This radiation technique generates detailed images
of cross-sections or slices of the brain by using the magnetism of specific atoms found in the brain.
These images are more detailed than CT and can provide information
about any malformations in brain structures or other types of lesions common in epileptic cramps.

Infection as the cause of epileptic cramps can be identified
by blood tests, urine tests, and lumbar punctures.

Wood's lamp is used to examine the skin for pigment deficiency lesions to determine whether tuberous sclerosis is a possible diagnosis
.

Molecular genetic testing can be used for mutations
in the ARX and CDKL5 genes associated with X-linked West syndrome.
It can also be used for genes
associated with tuberous sclerosis.
Some genetic disorders require genetic testing
of cerebrospinal fluid (CSF).
Detection of non-ketotic hyperglycemia may require a sample of cerebrospinal fluid to detect glycine, and detection of mitochondrial disease may require cerebrospinal fluid to detect lactate
.
Mutations
in the STXBP1 gene have also recently been identified in patients with Otahara syndrome.
There are several genomes available that can test for various genetic conditions that occur in epilepsy in children of a specific age, such as epileptic cramps
.

7.
Treatment

Treatment may require a coordinated effort by a team of specialists
.
Pediatricians, neurologists, surgeons, and/or other healthcare professionals may need to plan the treatment
of affected children systematically and comprehensively.

In some children, treatment with anticonvulsants may help reduce or control the various seizure activities
associated with West syndrome.
The most common drugs used to treat epileptic cramps include adrenocorticotropic hormone (ACTH), prednisone, vigabatrin, and pyridoxine
.
The benefits of the drug need to be weighed
against the risk of side effects of each treatment.
For example, adrenocorticotropic hormones, prednisone, and other steroids are known to cause problems such as immunosuppression, high blood pressure, glucose, stomach problems, agitation, and irritability
.
Vigabatrin may cause irreversible visual field defects, irritability, and transient hyperintension of MRI deep structures
.
There is no standard protocol for treatment with ACTH or other steroids
.
It is unclear whether high-dose ACTH or low-dose ACTH is effective, or whether the use of prednisone is more effective
than ACTH.
In a recent multicenter study comparing steroid therapy with vigabatrin, it was suggested that steroids may have better control of seizures at 2 weeks of treatment than vigabatrin, but with the same
effect after one year.
In addition, vigabatrin is more effective
in patients with tuberous sclerosis or cortical dysplasia compared to steroids.
Recently, a multicenter European/Australian/New Zealand Consortium (ISCC) found that hormone therapy with vigabatrin was more effective at stopping infantile spasms
than hormone therapy alone.
Research
is underway in the United States on the combination of hormones and vigabatrin.

It is thought that the shorter time between diagnosis and treatment has less
harmful effects on development than longer treatment preparation times.
If these treatments are unsuccessful, other agents such as benzodiazepines (e.
g.
, clobazan), valproic acid, topiramate, lufiamide, and zonisamide
may be used.

The ketogenic diet is sometimes successful in treating epileptic cramps, with studies showing a rate of complete control of epileptic cramps as high as 35%.

Finally, in the case of malformations or tuberous sclerosis, epilepsy surgery may help control spasms
.

VIII.
Prognosis

Some children respond well to antiepileptic drugs, while others do not respond to
antiepileptic drugs.
The prognosis of infantile spasms depends primarily on the cause
.
The long-term prognosis is poor, more than 90% have varying degrees of psychomotor retardation, and many children develop other seizure types in the late childhood, which may develop Lennox-Gastaut syndrome
.

9.
Rare disease information registration

If you are willing to seek constantly updated information, it is recommended that you register the patient's information here, even if you are not fully diagnosed, you can register, click to enter:

Patient Information Registry System for Rare Diseases

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https://rarediseases.
org/rare-diseases/west-syndrome/