West syndrome

Generality

By West's syndrome he means a form of childhood epilepsy, which occurs between the 4th and 8th month of life, triggering muscle spasms several times a day. In addition to these particular spasms, the disease is also characterized by some intellectual and developmental deficits, sometimes serious and with serious future repercussions.

Figure: Muscle spasms in a child with West syndrome: arms outstretched, knees raised and crying fits. From the site: buzzle.com

The "origin of West c syndrome" is almost always brain damage, which can occur when the baby is in the mother's womb or shortly after birth.
Seizures and abnormal brain activity, measured by electroencephalogram, are the signs on which to base the diagnosis.

So is West's syndrome

West's syndrome is a particular form of epilepsy, typical of very early childhood. It manifests itself with characteristic muscle spasms, which generally appear between the 4th and 8th month of life.
In addition to the characteristics of the spasms (or seizures) and the specific age of onset, West's syndrome is also characterized by an abnormal brain activity, called hypsarrhythmia, and, sometimes, by learning and developmental deficits. The latter, in fact, can be more or less present, depending on the causes that cause the syndrome.
Although the disorders go away within the first year of life, it happens very often that West syndrome turns into some other form of epilepsy or has future neurological repercussions (autism).

EPIDEMIOLOGY

According to some sources, the incidence of West's syndrome is one case for every 2,500-3,000 new borns; according to others, it is one case for every 6,000 new borns.
As mentioned, epileptic attacks are almost always observed (90% of cases) within the first year of life. A 10-20% of patients diagnosed with the disease do not have any learning and developmental deficits, therefore they have normal growth. serious, depending on the underlying cause.

FIRST DESCRIPTION

To describe West's syndrome for the first time, it was Dr. William James West, who observed the muscle spasms directly on his 4-month-old son.

Causes

In most cases, recognizable brain damage is responsible for West's syndrome.
However, some cases of the disease are classified as idiopathic (that is, with no apparent cause); in such circumstances, the reason for the onset of symptoms is unclear.

IMPORTANCE OF THE CAUSE

Depending on the cause of origin, West's syndrome can be more or less severe. In general, the idiopathic forms do not affect the neurological development of the infant; conversely, the forms sustained by brain damage can also be characterized by severe intellectual and developmental delays.

WEST SYNDROME FROM CEREBRAL DAMAGE

Brain damage can occur at three different times: in the prenatal period (i.e. before birth), in the perinatal period (between the end of pregnancy and the first period after birth) or in the postnatal period. Often, a pathological condition, such as a genetic syndrome, an infectious disease, a state of oxygen deficiency, etc. causes the injury.
The following are the most common pathological situations associated with West's syndrome:

• Prenatal period: hydrocephalus, microcephaly, Sturge-Weber syndrome, tuberous sclerosis, Aicardi syndrome, Down syndrome, cerebral hypoxia and ischemia, congenital viral infections and trauma.
• Perinatal period: cerebral hypoxia and ischemia, meningitis, encephalitis, trauma and cerebral (or intracranial) hemorrhage.
• Postnatal period: pyridoxine dependence, biotinidase deficiency, maple syrup urine disease, phenylketonuria, meningitis, degenerative diseases and trauma.

IDIOPATHIC FORMS

Since often the idiopathic forms do not alter the intellectual abilities of patients (whose development, in fact, is normal), it is believed that in these cases it is certainly not neurological damage that triggers the epileptic attacks.

Symptoms and Complications

The most characteristic signs of West's syndrome are muscle spasms in the trunk, neck and limbs. An "other rather typical manifestation of the disease (although it is not detectable with the naked eye) is an" abnormal brain activity, known as hypsarrhythmia and found above all during wakefulness and sleep.
Finally, especially in cases where West's syndrome is due to brain damage, more or less serious intellectual and developmental deficits can be found.

MUSCLE SPASMS

Main characteristics of contractions:

• In series
• Each series lasts, in all, 10-15 seconds, with a very short interruption between one contraction and the next
• A maximum of 30 seconds can pass between each series
• At least a dozen episodes a day
• Before or after sleep
• Spasms in flexion, extension or both
• They cause crying and irritability in the baby

Seizures are characterized by truly unique muscle spasms. These are, in fact, sudden, rapid contractions, lasting a total of a few seconds and, almost always, followed 5-30 seconds later by identical episodes.

Spasmodic movements of the limbs and neck can be in extension (20-25% of the time), in flexion (35-40%), or both (40-50%). In the latter case, the little patient flexes and extends the muscles alternately.
One realizes that an attack is in progress because the arms and legs tend to open, the knees to rise and the head to bend forward and / or backward.
Usually, the spasms occur before the baby falls asleep or when he wakes up. they almost never occur during sleep.
The appearance of the spasms coincides with a state of irritability of the infant, who cries.
During a day, attacks can reach as many as a dozen.

IPSARITHMIA

When we talk about hypsarrhythmia, we refer to an "abnormal brain activity, characterized by a particular electroencephalographic trace: high voltage waves, chaotic, disorganized and with numerous peaks. The strangeness of what results from the instrumental examination is such that it can be caught even by a non-expert in neurology.

Figure: EEG tracing of an infant with hypsarrhythmia. From the site: pediatrics.georgetown.edu

Hypsarrhythmia usually appears only when the child is sleeping or is in the phase of semi-sleep; it is very rare, in fact, to observe any cerebral anomaly when the little patient is awake or when he is having an epileptic attack.

NEUROLOGICAL DEFICITIES AND DELAY OF DEVELOPMENT

It is difficult to notice intellectual deficits in such young children, however these do exist (in 80-90% of cases) and are confirmed by instrumental tests. With the growth, then, these deficits become evident.
On the other hand, the case of developmental delays is different: they are very evident, so much so that, as soon as West's syndrome is exhausted, an immediate resumption of growth is observed.However, despite this, the patient still carries with him several consequences of this slowdown.

OTHER SIGNS AND SYMPTOMS

Depending on the pathological condition that causes West's syndrome, you will have several other additional signs. For example, when you come across a case resulting from tuberous sclerosis, it is possible to ascertain, through the Wood's lamp, the presence of characteristic skin lesions.

Diagnosis

To diagnose West's syndrome, we rely on "physical examination of the signs, then on" observation of spasms, and on "electroencephalographic examination (EEG).
Subsequently, the causes of the disease are investigated; useful information can come from laboratory and instrumental tests, such as CT and nuclear magnetic resonance.

OBJECTIVE EXAMINATION

Muscle spasms denote a child's malaise, but are not always synonymous with a serious pathological condition. They are linked to West syndrome when:

• They arise between the 4th and 8th month of the child's life. However, no later than the first year of life.
• They are in series. Sporadic episodes, in fact, are generally due to colic, very frequent in early childhood.

ELECTROENCEPHALOGRAM

If there is a concrete possibility that it is West's syndrome, the doctor submits the little patient to an electroencephalogram (EEG), to evaluate the presence of hypsarithymia. The examination must be carried out in particular moments, that is when the child is asleep or in the waking phase.
A trace that attests the hypsarrhythmia means that it is almost certainly West's syndrome.

LABORATORY EXAMS AND OTHER INSTRUMENTAL TESTS

It begins with blood tests, performing a blood count and measuring the levels of creatinine (kidney function), glucose (blood sugar), calcium (calcium), magnesium (magnesium) and phosphate (phosphate).
It continues with a computerized axial tomography (CT) or, better still, with a nuclear magnetic resonance (MRI), to identify the extent and size of the brain damage. The CT emits ionizing radiation; the MRI, on the other hand, is an examination devoid of any danger.
If West syndrome is suspected to be the result of an infectious agent, urine and CSF tests are done.