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Pathophysiology of Infantile Spasms

  • Harry T. Chugani
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 497)

Abstract

Recent observations have contributed significantly to our understanding of the pathophysiology of infantile spasms, and have allowed a number of hypotheses to be generated. Any consideration of the pathophysiology of infantile spasms must take into account the following features common to the population of subjects with infantile spasms:
  1. 1

    The spasms are generalized seizures which consist of brief muscle extension, flexion, or mixed flexion-extension jerks involving the neck, trunk, or extremities.47,49 Lateralizing or localizing clinical features may be present during the spasms.

     
  2. 2

    Infantile spasms can be associated with a wide variety of neurological conditions, including metabolic, dysplastic or dysgenetic abnormalities, and various prenatal, perinatal, and postnatal insults.51 In the symptomatic category, a specific neurological condition can be identified, whereas in the cryptogenic sub-group an underlying condition is suspected based on clinical features, EEG or other tests, but a specific diagnosis cannot be made.

     
  3. 3

    There is a small group (<5%) of infants with spasms, the idiopathic subgroup, which is believed not to be associated with any underlying condition. Neurodevelopment is normal at presentation, and there is a lack of focal features on clinical examination, seizure semiology or EEG. Reappearance of hypsar-rhythmia between consecutive spasms in a cluster is said to be an important feature in this subgroup.34 There is rapid response of the spasms to medical treatment and an ultimately benign course is expected. This rare situation may represent a case in which, during development, there is a chemical or physiological disturbance resulting in spasms, but which can be totally reversed with medical treatment.

     
  4. 4

    With rare exceptions,38 the spasms typically begin between age 3 and 8 months and disappear by age 2 to 3 years. In other words, there appears to be a developmental window during which various brain abnormalities may result in infantile spasms as one manifestation of the underlying disorder.

     
  5. 5

    Although the vast majority of brain lesions that have been identified in patients with infantile spasms involve the cerebral cortex, their locations are not specific to any cortical region.

     
  6. 6

    With some exceptions, the spasms do not appear to respond to conventional anticonvulsants, but rather, to therapeutic agents not typically used in epilepsy, such as corticosteroids. If the spasms respond to such treatment, the response is often abrupt and dramatic rather than graded, as is seen in other forms of epilepsy.

     

Keywords

Positron Emission Tomography Partial Seizure Infantile Spasm Kynurenic Acid Lenticular Nucleus 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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© Springer Science+Business Media New York 2002

Authors and Affiliations

  • Harry T. Chugani
    • 1
  1. 1.Division of Pediatric Neurology and the PET Center Children’s Hospital of MichiganWayne State UniversityDetroit

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