Infantile spasms, also known as West syndrome, is a rare and severe form of epilepsy that affects infants and young children and is characterized by sudden, brief, and symmetric muscle contractions in clusters. Spasms can occur in any body part but are most seen in the neck, trunk, and arms. They usually last a few seconds, occur in clusters of 5 to 10 spasms, and occur several or several hundred times a day.
Infantile spasms typically begin between three and twelve months, with the peak onset occurring at around six months. Infantile spasms can significantly impact a child’s development and quality of life, causing developmental delays, cognitive impairment, and behavioral problems. Therefore, early diagnosis and treatment are essential to prevent long-term complications and improve outcomes for affected children.
The exact cause of infantile spasms is not fully understood. However, it is believed to be related to abnormal brain development or damage. Some of the known causes of infantile spasms include brain malformations and structural abnormalities in the brain, such as cortical dysplasia; genetic disorders, such as tuberous sclerosis; brain injuries, such as brain trauma during birth or early infancy; infections, such as meningitis or encephalitis; metabolic disorders such as phenylketonuria.
Diagnosing infantile spasms can be challenging, as the symptoms can be subtle and may be mistaken for other conditions. Therefore, a thorough medical history and physical examination are essential to rule out other causes of the symptoms. Diagnostic tests that may diagnose infantile spasms include an electroencephalogram (EEG), which can identify abnormal brain electrical activity associated with infantile spasms; magnetic resonance imaging (MRI) can help identify structural abnormalities in the brain that may be causing the seizures; blood tests to identify metabolic disorders or infections causing seizures.
Treatment options include vigabatrin, which is an antiepileptic medication and adrenocorticotropic hormone (ACTH); ketogenic diet, which is a high-fat, low-carbohydrate diet; surgery to remove brain abnormalities; and early intervention, such as physical therapy, occupational therapy, and speech therapy.