Infantile spasms

• Infantile spasms:

  • Also known as West syndrome
  • Type of epilepsy syndrome
  • Rare disorder
  • Typical age of onset 4-7 months
• Clinical features:

  • Sudden jerks of the neck, trunk or limbs followed by a few seconds of tonic posturing
  • Shortly after waking or when falling asleep
  • Clustered - several to hundreds in runs
  • Cries at the end of the run of spasms
  • Insidious onset with subtle spasms that increase over time
  • Encephalopathy/regression - loss of visual alertness and smile
• West syndrome is a combination of infantile spasms, hypsarrhythmic pattern on EEG and regression
• Diagnosis:

  • EEG - hypsarrhythmia pattern when the seizures are not occurring
  • MRI scan
• Causes:

  • Brain injuries or infections - perinatal stroke, hypoxic-ischaemic brain injury, meningitis
  • Developmental problems - brain development in utero
  • Genetic conditions - tuberous sclerosis
  • Inborn errors of metabolism
  • Sometimes idiopathic
• Prognosis:

  • Poor
  • 1/3 die by age 25
  • At risk of developing difficult to control epilepsy, intellectual disability and autism
• Management:

  • Hormonal therapy - prednisolone
  • Vigabatrin - antiepileptic