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Microscopic cortical dysplasia in infantile spasms: evolution of white matter abnormalities
R Sankar1, J G Curran, J W Kevill
1Department of Pediatrics, UCLA School of Medicine 90024, USA.
Purpose:
To determine whether microscopic cortical lamination defects in patients with infantile spasms, not initially identifiable on MR, may be inferred from evolving changes in the adjacent white matter.
Methods:
Three infants between 3 and 6 months of age presented with infantile spasms. Based on negative metabolic assessment and normal MR findings, they were classified as cryptogenic. Despite therapy the children deteriorated with seizure recurrence and the advent of lateralizing clinical and neurophysiologic findings. MR studies were repeated and positron emission tomography was done.
Results:
The second MR studies demonstrated abnormalities of myelination, corresponding to localized clinical and neurophysiologic findings. Positron emission tomography findings did not show a strong correlation; one was normal, one showed no abnormality in the major area of MR abnormality, and one showed significantly less abnormality than on MR. Two patients have undergone surgery, both with good response.
Discussion:
Subtle lamination defects may be identifiable on positron emission tomography but are usually not detectable on MR. White matter abnormality on MR images is usually attributable to primary disease. We suggest that in certain cases progressive white matter changes may be induced as a secondary phenomenon by overlying microscopic cortical lamination defects. Serial MR imaging may be beneficial in children with infantile spasms in whom signs of laterality evolve.
Insights
Microscopic brain abnormalities in infantile spasms may not be seen on initial MRI. Progressive white matter changes on serial MRI can indicate these subtle defects, aiding diagnosis in infants with evolving neurological signs.
Area of Science:
- Neuroimaging
- Pediatric Neurology
- Epilepsy Research
Background:
- Infantile spasms (IS) are a severe epilepsy syndrome in infants.
- Cryptogenic IS often lack identifiable causes on initial neuroimaging.
- Early diagnosis and treatment are crucial for neurodevelopmental outcomes.
Observation:
- Three infants with cryptogenic infantile spasms showed clinical and neurophysiological deterioration.
- Serial MRI revealed evolving white matter abnormalities correlating with clinical signs.
- Positron emission tomography (PET) showed variable correlation with MRI findings.
Findings:
- Microscopic cortical lamination defects, undetectable by initial MRI, may underlie infantile spasms.
- Progressive white matter changes on serial MRI can suggest secondary effects of these defects.
- Surgery provided good outcomes for two patients, suggesting underlying focal pathology.
Implications:
- Serial MRI is valuable for diagnosing subtle abnormalities in infantile spasms with evolving lateralizing signs.
- Understanding secondary white matter changes can improve diagnostic accuracy in cryptogenic IS.
- Further research into the relationship between cortical dysplasia and white matter changes in IS is warranted.