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Iomazenil hyperfixation in single photon emission computed tomography study of malformations of cortical development
Norimichi Higurashi1, Shin-ichiro Hamano, Tomotaka Oritsu
1Division of Neurology, Saitama Children's Medical Center, Japan. higijh.n@gmail.com
Insights
Malformations of cortical development can cause early-onset epilepsy. (123)I-iomazenil SPECT imaging in infants revealed hyperfixation in dysplastic lesions, suggesting immature neurons and GABAergic involvement in infant epilepsy.
Area of Science:
- Neuroscience
- Developmental Neuroscience
- Epileptology
Background:
- Malformations of cortical development (MCD) are a significant cause of early-onset epilepsy in infants.
- Understanding the underlying mechanisms of epileptogenesis in MCD is crucial for effective treatment.
Observation:
- Two cases of infants with MCD and early-onset epilepsy are presented.
- Case 1: Left hemimegalencephaly with focal epilepsy and cluster spasms, followed by contralateral seizure origin post-hemispherectomy.
- Case 2: Lissencephaly due to a doublecortin gene mutation, presenting with West syndrome.
Findings:
- Both patients showed significant hyperfixation in dysplastic lesions on (123)I-iomazenil single photon emission computed tomography (SPECT) during infancy.
- This hyperfixation suggests neuronal immaturity within the dysplastic areas.
- Findings indicate a potential role of gamma-aminobutyric acid (GABA)ergic system dysfunction in infant epilepsy associated with MCD.
Implications:
- Infant (123)I-iomazenil SPECT may aid in identifying epileptogenic zones in MCD.
- Results highlight the importance of neuronal immaturity and GABAergic involvement in the pathogenesis of epilepsy in infants with MCD.
- Further research into GABAergic modulation could offer novel therapeutic strategies for these challenging epilepsies.
Abstract:
We present 2 cases of malformations of cortical development and early onset epilepsy. The first case is of a patient with left hemimegalencephaly who developed focal epilepsy at the age of 2 days and cluster spasms at 1.5 months. After left functional hemispherectomy, seizures originated from the contralateral hemisphere, which had shown normal signals in the preoperative magnetic resonance imaging study. The second case is of a patient with lissencephaly, caused by a missense mutation in the doublecortin gene, who developed West syndrome at the age of 5 months. In both the cases, (123)I-iomazenil single photon emission computed tomography performed during infancy showed significant hyperfixation in the dysplastic lesions. This finding indicates the immaturity of the affected neurons and a gamma-aminobutyric acidergic involvement in epileptogenesis associated with malformations of cortical development during infancy.