West Syndrome (IS)

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NINDS: ⁵² An epileptic spasm is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood often called West Syndrome.  These are more commonly called infantile spasms (IS) since they are seen most often in the first year of life.  West Syndrome/IS is characterized by epileptic spasms, developmental problems, and a specific brain wave pattern on electroencephalography (EEG) testing called hypsarrhythmia.  The onset is usually in the first year of life, typically between 4-8 months.  The seizures often look like a sudden bending forward of the body with stiffening of the arms and legs lasting for 1-2 seconds; some children arch their backs as they extend their arms and legs.  Spasms tend to occur upon awakening and often occur in multiple clusters and hundreds of seizures per day.  Most children, but not all, will have EEG readings of hypsarrhythmia.  Infantile spasms usually stop by age five, but may be replaced by other seizure types. Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can give rise to IS, making it important to identify the underlying cause.  In some children, no cause can be found.

MalaCards based summary: West Syndrome, also known as infantile spasms, is related to developmental and epileptic encephalopathy 1 and lennox-gastaut syndrome, and has symptoms including seizures An important gene associated with West Syndrome is ARX (Aristaless Related Homeobox), and among its related pathways/superpathways are Glucose / Energy Metabolism and Angiopoietin-like protein 8 regulatory pathway. The drugs PK 11195 and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and temporal lobe, and related phenotypes are developmental regression and myoclonus

GARD: ¹⁹ West syndrome is characterized by a specific type of seizure (infantile spasms) seen in infancy and childhood. This syndrome leads to developmental regression and causes a specific pattern, known as hypsarrhythmia (chaotic brain waves), on electroencephalography (EEG) testing. The infantile spasms usually begin in the first year of life, typically between 4-8 months. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. Infants may have dozens of clusters and several hundred spasms per day. Many disorders leading to brain injury, such as birth problems, cerebral anomalies, metabolic disorders, and genetic disorders can lead to these spasms, making it important to identify the underlying cause. In some children, no cause can be found. Some children have spasms as the result of brain lesions, and surgical removal of these lesions may result in improvement.

Orphanet: ⁵⁸ A rare epilepsy syndrome characterized by onset of epileptic spasms in infants between 2 and 12 months of age, and rarely up to 24 months. Infants may have no antecedent history, or a history reflecting the underlying cause. The classical triad of epileptic spasms, hypsarrhythmia and developmental stagnation or regression is historically referred to as West syndrome.

Disease Ontology: ¹¹ An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability.

Wikipedia: ⁷⁵ Epileptic spasms is an uncommon-to-rare epileptic disorder in infants, children and adults. One of the... more...

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