What Is West’s Syndrome?
The disorder known as West's syndrome is categorized as epileptic encephalopathy. Epileptic encephalopathies are diseases that cause children to experience seizures in addition to cognitive and developmental delays. Infantile spasms may be related to a developmental regression as well as a highly irregular pattern of electrical activity in the brain called hypsarrhythmia. Infantile spasms are a special form of seizure that begins in the first one to two years of life. Both spasms and hypsarrhythmia have been shown to have an indirect influence on cognitive and behavioral deficits.
What Are the Causes of West’s Syndrome?
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Alterations to the patient's DNA.
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Metabolic diseases.
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Extraordinary brain structure or development.
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Oxygen deprivation leads to brain damage.
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Brain trauma.
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Infection of the brain abnormalities, including hemimegalencephaly (a rare neurological disorder characterized by abnormal brain development) and cortical dysplasia (a developmental abnormality that affects the cerebral cortex, the outer layer of the brain).
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Chromosomal anomalies, including Down syndrome.
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Neurocutaneous illnesses, including tuberous sclerosis complex-(TSC) (a genetic disorder characterized by the formation of benign tumors in various organs of the body.), Sturge Weber syndrome (an uncommon neurological condition with a port-wine taint mark on one side of a forehead and upper eyelid) and incontinentia pigmenti (a hereditary disorder that causes a blistering rash in newborns and wart-like skin growths) are characterized by abnormalities in the skin's pigmentation.
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Many metabolic illnesses, such as vitamin B6 deficiency, non-ketotic diabetes mellitus (a medical condition characterized by the absence of ketosis, a metabolic state in which the body uses ketones as an alternative fuel source), urine disorder, Folling’s disease (a hereditary condition where the system lacks the enzyme to convert phenylalanine to tyrosine.), mitochondrial encephalopathies (a mitochondrial illness that affects the neurological system and muscles largely), and multiple carboxylase deficiency (a set of diseases characterized by decreased activity of biotin-dependent enzymes.), and early infantile epileptic encephalopathy syndrome (epilepsy is a neurological condition marked by seizures). The disease typically manifests as epileptic seizures during the initial three months of a kid's growth), as well as a mutation of the ARX gene or CDKL5 gene on the X chromosome.
What Is the Tuberous Sclerosis Complex's (TSC) Effect on the Syndrome?
The tuberous sclerosis complex (TSC) is the condition that causes West syndrome in the vast majority of patients. TSC is a genetic disorder that is inherited from generation to generation in an autosomal dominant manner and is associated with epileptic seizures, malignancies of the eye, heart, and kidneys, and skin abnormalities. There are two types of genetic disorders: dominant and recessive. A dominant genetic condition is one in which only one copy of a gene that does not function properly is required to cause the disease. The inactive gene may have been passed down from either of the affected individual's parents, or it may be the product of a mutant gene that occurred in the affected person themselves. There is a 50 percent chance that an affected parent will pass on a gene that is dysfunctional to the child.
What Are the Signs and Symptoms?
Signs of West syndrome typically manifest during the first year of life. The typical age at which epileptic spasms begin is six months. The conditions listed below are symptoms of West syndrome.
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Involuntary Muscle Spasms - There are electrical abnormalities in the brain known as seizures. Typically, each involuntary spasm begins abruptly and lasts only a few seconds, and they frequently occur in clusters lasting ten to 20 minutes. It is characterized by quick, uncontrollable contractions of the head, neck, and trunk and/or uncontrolled extension of the legs and/or arms; they may occur upon awakening or after feeding. Seizures differ in duration, intensity, and affected muscle groups among infants.
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Psychomotor Retardation - The majority of youngsters will have regression or delay in the acquisition of abilities requiring coordination of muscles and voluntary movements.
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Recurrent Epileptic Seizures - The recurring occurrence of seizures is the hallmark of the brain condition epilepsy. A seizure is typically characterized as an abrupt change in behavior caused by a transient disturbance within the neuronal activity of the brain.
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Lennox-Gastaut syndrome - It is characterized by difficult-to-control seizures of varying forms and intellectual incapacity.
What Is the Diagnostic Method for West’s Syndrome?
The diagnosis of the condition is made through monitoring and characterization of the patterns of brain activity using various instruments, such as:
1. Electroencephalography (EEG): Electroencephalography (EEG) is a non-invasive and painless method of measuring the electrical activity patterns of the brain. The presence of a pattern known as hypsarrhythmia in a patient, particularly when the individual is sleeping, can be suggestive of epileptic spasms. On occasion, a patient diagnosed with epileptic spasms will not display the hypsarrhythmia pattern on an electroencephalogram (EEG) because of a delay between the onset of clinical symptoms and the appearance of the pattern. An assessment for epileptic spasms could be supported by the results of a long-term video EEG.
2. Brain Imaging Techniques, which include
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Computed Tomography (CT): The images of the brain are generated, from which the development's finer points can be assessed. CT is also effective at revealing regions of calcification, which, in particular instances, may be crucial to the diagnosis.
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Magnetic Resonance Imaging (MRI): Using the magnetic characteristics of certain atoms found in the brain, this radiological approach generates comprehensive images of brain cross-sections or slices. The images are more detailed than a CT scan and can provide information on any deformities of the brain's structures or other sorts of lesions that are typically observed in epileptic spasms.
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Molecular Genetic Testing: Molecular genetic testing refers to the diagnostic process that involves the analysis of an individual's genetic material at the molecular level. Numerous genetic panels can assess children of a certain age for a range of epilepsy-related inherited illnesses, such as spasms.
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Other Tests: Tests on the patient's blood, urine, and lumbar puncture can help determine the likelihood of infection being the underlying cause of the epileptic spasms.
3. Wood’s Lamp Examination: For determining that tuberous sclerosis is a viable diagnosis, a Wood's lamp is used to inspect the skin for pigment-free lesions.
What Are the Treatment Methods?
Infantile spasms have been treated with ACTH, oral corticosteroids, Vigabatrin, and standard antiepileptic medications (AEDs). The medicine of choice for patients with tuberous sclerosis or symptomatic infantile spasms was Vigabatrin.
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Adrenocorticotropic Hormone (ACTH): Adrenocorticotropic hormone steroid medication induces a cessation of spasms and improves the EEG in patients within a few weeks. It is administered as a daily intramuscular injection. Irritability, hypertension, infection, brain atrophy, hypertension, metabolic abnormalities, osteoporosis, sepsis, and congestive heart failure are typical side effects of this medication.
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Vigabatrin (VGB): In situations of West syndrome, the anticonvulsant drug has a high effectiveness rate. It functions by increasing the level of the neurotransmitter GABA in the central nervous system. VGB is usually well for children, with the majority of adverse effects being mild. Included are headache, vertigo, weariness, weight gain, and decreased muscle tone. Permanent retinal toxicity, which causes visual field constriction but no discernible alteration to central vision, is a potentially serious adverse effect.
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Second-Line Therapy: These medicines include corticosteroids, anti-seizure drugs, Pyridoxine, intravenous immunoglobulin, surgical removal of the seizure-producing regions of the brain, and a ketogenic diet, which is a specific, extremely high-fat diet widely being used to manage numerous kinds of epilepsy.
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Surgery: Cortical excision is the process of eliminating the aberrant portion of cortical tissue. The purpose of this is either to reduce the frequency of seizures or to enhance brain growth. Patients who are:
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Not responding to ACTH and/or Vigabatrin.
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Display structural brain defects in a specific area.
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Conclusion
Infantile spasms are a type of epileptic encephalopathy that can be difficult to treat and frequently result in the child's inability to function normally. Genetic testing and MRI scans of the brain, both of which are easily accessible, can produce the best results in terms of diagnosing the origin of the condition. The diagnosis of the underlying cause is important since it affects both the therapy recommendations and the prognosis. In most cases, a period of two weeks is sufficient to determine whether the first-line therapy, such as a hormone treatment or another prescription, is beneficial to the patient. A methodical strategy for treatment is linked to an increase in the utilization of first-line treatments as well as an improvement in spasm cessation rates at three-month follow-ups. The treatment's goal would be to bring about a complete and total absence of infantile spasms. Those who are diagnosed in a timely manner and given treatment that is both adequate and appropriate, particularly those who have idiopathic infantile spasms, have the greatest possibility of achieving a normal or near-normal outcome.
