West syndrome, also known as infantile spasms, is a rare and severe form of epilepsy that typically affects infants during their first year of life. It is characterized by a specific pattern of seizures, developmental regression, and abnormal brain activity.
The hallmark symptom of West syndrome is the presence of infantile spasms, which are brief and jerky movements that usually involve bending forward or backward and are often accompanied by a sudden stiffening of the body. These spasms can occur in clusters and may be more frequent during sleep. Additionally, individuals with West syndrome may experience other seizure types, such as tonic or myoclonic seizures.
In addition to seizures, children with West syndrome often exhibit developmental regression, meaning they may lose previously acquired skills or fail to reach expected milestones. This regression can affect cognition, motor skills, and social development.
The underlying cause of West syndrome varies, but it is frequently associated with structural brain abnormalities, genetic mutations, or brain injuries that occur during prenatal or early postnatal development. In some cases, the cause may remain unknown.
Diagnosis of West syndrome is based on clinical presentation, including the observation of characteristic spasms, EEG recordings to identify specific brain wave patterns, and various neuroimaging techniques to assess the structure and function of the brain.
Although West syndrome can be challenging to manage, early diagnosis and intervention are crucial. Treatment options typically include antiepileptic medications and sometimes hormonal therapies like adrenocorticotropic hormone (ACTH) or oral corticosteroids. Early intervention programs and multidisciplinary support are also essential for optimizing developmental outcomes and improving overall quality of life.
