Infantile spasm

Infantile Spasm Infantile spasm, also known as West syndrome, is a rare and severe form of epilepsy that typically begins in infancy. It is characterized by epileptic spasms, developmental regression, and a specific pattern on an electroencephalogram (EEG) known as hypsarrhythmia.

Clinical Presentation

Infantile spasms usually present between 3 to 12 months of age. The spasms are brief, lasting only a few seconds, and often occur in clusters. They may involve sudden bending forward of the body with stiffening of the arms and legs, or arching of the back as the arms and legs stiffen.

Symptoms

• Sudden, jerky movements
• Clusters of spasms, often upon waking
• Developmental delays or regression

Diagnosis

Diagnosis of infantile spasms is based on clinical observation and EEG findings. The hallmark EEG pattern is hypsarrhythmia, which is chaotic and disorganized brain wave activity.

EEG Findings

• Hypsarrhythmia
• High-voltage, irregular slow waves
• Multifocal spikes

Causes

The causes of infantile spasms can be varied and are often classified into symptomatic, cryptogenic, and idiopathic categories.

Symptomatic Causes

• Tuberous sclerosis
• Down syndrome
• Cerebral dysgenesis

Cryptogenic and Idiopathic

In some cases, no clear cause is identified, and these are termed cryptogenic or idiopathic.

Treatment

Treatment of infantile spasms is critical to improve outcomes and may involve medications, dietary therapy, or surgery.

Medications

• Adrenocorticotropic hormone (ACTH)
• Vigabatrin
• Corticosteroids

Other Therapies

• Ketogenic diet
• Surgical intervention in refractory cases

Prognosis

The prognosis for children with infantile spasms varies. Early and effective treatment can improve outcomes, but many children may experience ongoing developmental challenges or other forms of epilepsy.

Research and Future Directions

Ongoing research aims to better understand the underlying mechanisms of infantile spasms and to develop more effective treatments. Genetic studies and advanced imaging techniques are among the tools being used to advance knowledge in this area.

See Also

• Epileptic spasms
• Hypsarrhythmia
• Tuberous sclerosis

External Links

• [Epilepsy Foundation](https://www.epilepsy.com/)
• [National Institute of Neurological Disorders and Stroke](https://www.ninds.nih.gov/)

NIH genetic and rare disease info

• NIH info on Infantile spasm

Infantile spasm is a rare disease.