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Etiologic classification of infantile spasms in 140 cases: role of positron emission tomography
1Department of Pediatrics, Wayne State University School of Medicine, Detroit, MI, 48201, USA.
Insights
Positron emission tomography (PET) significantly improves the diagnosis of infantile spasms. This imaging technique revealed underlying brain abnormalities in 95.7% of cases, reclassifying many as symptomatic.
Area of Science:
- Neuroscience
- Pediatric Neurology
- Medical Imaging
Background:
- Infantile spasms classification relies on clinical evaluation and diagnostic technology.
- Brain malformations, especially cortical dysplasia, are key in symptomatic cases.
- Existing imaging like CT/MRI identifies lesions in a subset of patients.
Purpose of the Study:
- To evaluate the diagnostic utility of Positron Emission Tomography (PET) in classifying infantile spasms.
- To determine the prevalence of symptomatic, cryptogenic, and idiopathic infantile spasms using PET.
- To identify the types and locations of brain abnormalities detected by PET.
Main Methods:
- Analysis of etiological data from 140 infants (2 months to 4 years 10 months) with infantile spasms.
- Extensive evaluation at two major medical centers, including clinical examination and advanced imaging.
- Utilized Positron Emission Tomography (PET) for glucose utilization to detect brain malformations.
Main Results:
- Without PET, 30% of cases were classified as symptomatic.
- PET identified lesions in 95.7% of infants, dramatically increasing the symptomatic group.
- PET revealed unifocal (30) and multifocal (62) abnormalities in cryptogenic cases, largely representing dysplastic lesions.
Conclusions:
- PET is a powerful tool for detecting brain malformations in infantile spasms.
- The use of PET significantly reclassifies infantile spasms, with most cases being symptomatic.
- PET findings suggest that many abnormalities in infantile spasms are dysplastic in nature.
Abstract:
The classification of infantile spasms into symptomatic, cryptogenic, and idiopathic subgroups depends on clinical examination and available diagnostic technology. Positron emission tomography (PET) of glucose utilization is a powerful tool in detecting brain malformations (particularly cortical dysplasia) in infants with spasms. We analyzed etiologic data from 140 such infants, 78 girls and 62 boys, ages 2 months to 4 years 10 months (mean, 17 months). All had been evaluated extensively in one of two major medical centers. It should be emphasized that our referral population is biased toward infants with intractable spasms who fail to show a structural lesion. Seven patients had neurocutaneous syndromes, two had chromosomal abnormalities, two had inborn errors of metabolism, and one each had craniosynostosis or Menkes syndrome. Computed tomography and/or magnetic resonance imaging detected lesions in another 29 infants (20.7%) who did not have a specific disease or syndrome. Without the benefit of PET, the total number of symptomatic cases was 42 (30.0%). One infant, classified as idiopathic, had normal development and PET. In 97 cryptogenic cases, PET uncovered unifocal abnormalities in 30 and multifocal abnormalities in 62. Diffuse PET abnormalities, which did not provide specific etiologic information, were seen in three infants. Another two infants had normal PET scans. Thus, with the benefit of PET, the number of symptomatic cases rose dramatically from 42 (30.0%) to 134 (95.7%). The majority of unifocal and multifocal abnormalities on PET are believed to represent dysplastic lesions.