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[A case of non-photosensitive, self-induced epileptic seizures with pacygyria]
1Department of Pediatrics, Maizuru Hospital of Self Defense Force, Kyoto.
Insights
This study details an 11-year-old boy with epilepsy and pachygyria, highlighting a rare form of self-induced seizures. Findings suggest a link between progressive myoclonus epilepsy and neuronal migration disorders.
Area of Science:
- Neuroscience
- Genetics
- Epileptology
Background:
- Familial epilepsy and ataxia are presented in a multi-generational family.
- Neuronal migration disorders, such as pachygyria, can manifest with complex neurological symptoms.
Observation:
- An 11-year-old boy exhibited non-photosensitive, self-induced seizures, pachygyria, and familial ataxia.
- He experienced motor developmental delay, mental retardation, and regression.
- Brain MRI revealed right cerebral cortical pachygyria; ictal EEG localized seizures to the occipital lobe.
Findings:
- The patient self-induced seizures by visual stimulation, later developing spontaneous occipital lobe seizures.
- Standard blood and CSF analyses, including genetic testing for dentatorubralpallidoluysian atrophy, were inconclusive.
- Valproate and zonisamide effectively controlled seizure frequency.
Implications:
- This case suggests a potential link between progressive myoclonus epilepsy (PME) and neuronal migration disorders.
- Understanding the pathogenesis of self-induced seizures in this context is crucial for treatment.
- Further research into the genetic and neurological underpinnings of such combined conditions is warranted.
Abstract:
We report an 11-year-old boy with a non-photosensitive epileptic self-induced seizures, pacygyria and familial ataxia. His grandmother and aunts had dysarthria, and his mother had developed progressive ataxia and myoclonus since 40 years old. His older sister had ataxia, mental retardation and epilepsy. As for the boy, motor developmental delay with muscle hypertonicity of left extremities was recognized at the age of 5 months. Mental retardation and ataxia was recognized at the age of 3 years and slight mental regression is recognized at the age of 11 years. No special findings were detected in an examination of his blood and cerebrospinal fluid, including amino acids, lysosomal enzymes activity and genetic analysis for dentatorubralpallidoluysian atrophy. Brain magnetic resonance imaging revealed pachygyria of the right cerebral cortecies. At the age of two, he began to induce seizures with impairment of consciousness in himself by waving his right hand over his face which was directed toward a source of bright light. At the age of seven, he developed spontaneous seizures with impairment of consciousness. An EEG showed frequent spikes in the occipital areas, on the right and left sides occurring either independently or synchronously. Intermittent photic stimulation and pattern stimulation did not induce a paroxysmal discharge in EEG. Ictal EEG suggested that the origin of the seizures was the occipital lobe. Treatment with valporate and zonisamide was effective in reducing the seizures. The findings of our case imply the pathogenesis of self-induced seizures and the relationship between PME and neuronal migration disorders.