Generality
West syndrome refers to 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 also stands out for some intellectual and developmental deficits, sometimes serious and with serious future repercussions.
Figure: muscle spasms in a child with West syndrome: open arms, raised knees and crying spells. From the site: buzzle.com
At the origin of West syndrome there is almost always brain damage, which can occur when the child is in the mother's belly or immediately after birth.
Epileptic seizures and abnormal brain activity, measured by electroencephalogram, are the signs on which to base the diagnosis.
What is West syndrome
West syndrome is a particular form of epilepsy, typical of 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 spasms (or epileptic seizures) and the specific age of onset, West syndrome is also characterized by abnormal brain activity, called hypsarithmia, and, sometimes, by learning and developmental deficits . The latter, in fact, may be more or less present, depending on the causes that cause the syndrome.
Although the disorders are exhausted within the first year of life, it happens, very often, that West syndrome turns into some other form of epilepsy or that it has future neurological repercussions ( autism ).
Epidemiology
According to some sources, the incidence of West syndrome is one case for every 2, 500-3, 000 newborns; according to others, it is one case every 6, 000 newborns.
As mentioned above, epileptic seizures are almost always observed (90% of cases) within the first year of life. 10-20% of patients diagnosed with the disease do not have learning and developmental deficits, so they have normal growth. In all other cases, West syndrome, although it runs out, leaves more or less serious traces, depending on the cause.
FIRST DESCRIPTION
To describe West syndrome for the first time was Dr. William James West, who observed muscle spasms directly on his 4-month-old son.
Causes
In most cases, responsible for West syndrome is recognizable brain damage .
However, some cases of the disease are classified as idiopathic (ie, with no apparent cause); in such circumstances, the reason for the onset of symptoms is not clear.
IMPORTANCE OF THE CAUSE
Depending on the cause of origin, West syndrome may be more or less severe. In general, idiopathic forms do not influence the infant's neurological development; vice versa, the forms supported by brain damage can also be characterized by serious intellectual and developmental delays.
CEREBRAL DAMAGE WEST SYNDROME
Brain damage can occur at three different times: in the prenatal period (ie before birth), in the perinatal period (between the end of pregnancy and the first period after birth) or in the post-natal period. Often, to cause the injury is a pathological condition, such as a genetic syndrome, an infectious disease, a state of oxygen deficiency and so on.
The following are the most common pathological situations associated with West syndrome:
- Prenatal period : hydrocephalus, microcephaly, Sturge-Weber syndrome, tuberous sclerosis, Aicardi syndrome, Down syndrome, hypoxia and cerebral ischemia, congenital viral infections and trauma.
- Perinatal period : hypoxia and cerebral ischemia, meningitis, encephalitis, trauma and cerebral hemorrhage (or intracranial).
- Postnatal period : pyridoxine dependence, biotinidase deficiency, maple syrup urine disease, phenylketonuria, meningitis, degenerative diseases and trauma.
IDIOPATIC FORMS
Since idiopathic forms often do not alter the intellectual abilities of patients (whose development, in fact, is normal), it is believed that in these cases they are certainly not neurological damage to trigger seizures.
Symptoms and Complications
The most characteristic signs of West syndrome are muscle spasms in the trunk, neck and limbs. Another rather typical manifestation of the disease (although it is not detectable with the naked eye) is an abnormal brain activity, known as ipsaritmia and found mainly during wakefulness and sleep.
Finally, especially in cases where West syndrome is due to brain damage, more or less severe intellectual and developmental deficits can be observed.
MUSCULAR SPASMES
Main features of the contractions:
- In series
- Each series lasts, in all, 10-15 seconds, with a brief interruption between one contraction and another
- A maximum of 30 seconds can pass between each series
- At least a dozen episodes a day
- Before or after sleep
- Spasms in flexion, in extension or both
- They cause crying and irritability in the child
Epileptic seizures are characterized by truly singular muscle spasms. In fact, these are sudden, rapid contractions of a total duration of a few seconds and, almost always, followed by 5-30 seconds from identical episodes.
Spasmodic movements of the limbs and neck can be in extension (20-25% of the time), in flexion (35-40%) or in both ways (40-50%). In the latter case, the small 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 flex forward and / or backward.
Usually, spasms occur before the child falls asleep or wakes up; they almost never happen during sleep.
The appearance of spasms coincides with a state of irritability of the infant, who cries.
During a day, attacks can even reach a dozen.
hypsarrhythmia
When we talk about hypsarithmia, we refer to an abnormal brain activity, characterized by a particular electroencephalographic pattern: high voltage waves, chaotic, disorganized and with numerous points. The strangeness of what results from the instrumental examination is such that it can also be understood by a non-expert in neurology.
Figure: electroencephalographic trace of an infant with hypsarithmia. From the site: pediatrics.georgetown.edu
Hyparithmia usually occurs only when the child is sleeping or in the half-sleep phase; it is very rare, in fact, to observe some cerebral anomaly when the little patient is awake or when he is having an epileptic attack.
NEUROLOGICAL DEFICIT AND DELAY OF DEVELOPMENT
It is difficult to notice intellectual deficits in such small children, but these are (in 80-90% of cases) and are confirmed by instrumental examinations. Then, with growth, these deficits become obvious.
The case of development delays is different: they are very evident, so that, as soon as West's syndrome is exhausted, an immediate recovery of growth is observed. However, despite this, the patient still brings with it several consequences of this slowdown.
OTHER SIGNS AND SYMPTOMS
Depending on the pathological condition that causes West syndrome, you will have several other additional signs. For example, when you come across a case resulting from tuberous sclerosis, you can see, through Wood's lamp, the presence of characteristic skin lesions.
Diagnosis
To diagnose West syndrome we rely on the objective examination of the signs, then on the observation of spasms, and on the electroencephalographic examination ( EEG ).
Subsequently, we proceed to investigate the causes of the disease; useful information can come from laboratory tests and instrumental tests, such as CT and nuclear magnetic resonance .
EXAMINATION OBJECTIVE
Muscle spasms denote a child's discomfort, but are not always synonymous with a serious pathological condition. They are related 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.
- I'm in series. Sporadic episodes, in fact, are generally due to colic, very frequent in early childhood.
ELECTROENCEPHALOGRAM
If the possibility of West syndrome is concrete, the doctor submits the small patient to an electroencephalogram (EEG), to assess the presence of ipsarithymia. The exam must be carried out in particular moments, that is when the child sleeps or in the waking phase.
A path that certifies the hypsarithmia means that it is almost certainly West's syndrome.
LABORATORY TESTS AND OTHER INSTRUMENTAL TESTS
We start with blood tests, performing the blood count and measuring the levels of creatinine (renal function), glucose (blood glucose), calcium (calcemia), magnesium (magnesemia) and phosphate (phosphorus).
It continues with a computerized axial tomography (TAC) or, even better, with a nuclear magnetic resonance (NMR), to identify the extent and the size of the brain damage. The TAC 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 cefelorachidian fluid tests are performed .
What is the cerebrospinal fluid and how is it taken?
The cerebrospinal fluid, or liquor, is a colorless fluid that protects the entire central nervous system (brain and spinal cord) from possible trauma. In addition to performing a protective function, liquor provides nutrition to the CNS (central nervous system) and regulates intra-cranial pressure, avoiding the danger of cerebral ischemia.
The liquor is extracted by a lumbar puncture : the needle with which the sample is taken is inserted between the L3-L4 or L4-L5 vertebrae. This procedure should be practiced with care, because it can be dangerous, especially for a child.
Treatment
The therapy of West syndrome consists in the control of seizures. By control, we mean:
- Reduction in the number of daily spasms
- Limitation of the duration of each individual spasm
Succeeding in these two objectives does not heal from possible brain damage (which, unfortunately, remains unchanged), but certainly improves the quality of life of small patients, who in many cases are already carriers of other serious diseases.
MAIN PHARMACOLOGICAL TREATMENT
The main drugs administered in the case of West syndrome are:
- Adrenocorticotropic hormone ( ACTH ) and prednisolone : the first stimulates the production of corticosteroid hormones, while the second is an artificial corticosteroid. They provide decent results and the success rate can reach up to 65%.
Side effects: not negligible, may consist of: weight gain, hypertension, metabolic abnormalities, irritability, bone resorption and sepsis.
- Vigabatrin ( Sabril ): is the most important anticonvulsant, particularly when the child is suffering from tuberous sclerosis. In general, it affects 50% of patients.
Side effects: sometimes they can be very serious, especially in the ocular retina. In these cases, permanent loss of peripheral vision may occur. Therefore, medical monitoring is essential. Other side effects include headache, drowsiness, weight gain and dizziness.
OTHER PHARMACOLOGICAL TREATMENTS
As an alternative to the aforementioned drugs, you can opt for other anticonvulsants - such as valproate (Depakin) and topiramate (Topamax) - and for other steroid drugs (or corticosteroids), such as hydrocortisone and tetracosactide .
ARE THERE OTHER OTHER COUNTERMEASURES? CONCETRATE ON THE CAUSES
Unfortunately, as can be seen, the therapeutic offer is not very rich.
In recent times, a ketogenic diet has been experimented, which has been quite successful. However, it is still necessary to clarify how it reduces seizures and its possible side effects.
In light of these therapeutic difficulties, it is very important to focus on the causes . It is true that certain pathologies, particularly genetic ones, remain incurable, however it is possible to diagnose them in time and treat their most serious symptoms.
To cite an example: tuberous sclerosis causes brain tumors, which can be surgically removed. With this intervention, the symptomatology of associated West syndrome is also improved.
Prognosis
The prognosis, for a child with West syndrome, depends on the causes that caused the disease.
The pathological forms caused by brain damage never have a positive prognosis. In fact, to intellectual deficits and developmental delay, it must be added the fact that, very often, West syndrome evolves (at a more mature age) into another form of epilepsy or into autism.
Moreover, it should not be overlooked that the brain damage itself is subsequent to a serious health condition, difficult to cure or incurable altogether (for example, Down syndrome).
On the contrary, the forms without specific causes do not have serious neurological repercussions. The child grows healthy, thus making the prognosis positive. In these situations, we first intervene in limiting the spasms caused by West syndrome and the state of irritability and crying spells will be less frequent.
