[A case of non-photosensitive, self-induced epileptic seizures with pacygyria].
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.
Department of Pediatrics, Maizuru Hospital of Self Defense Force, Kyoto.
H
H
Nagai
A
A
Shikata
N
N
Sato
Y
Y
Takeuchi
T
T
Sawada
D001259:Ataxia / Q000235:genetics; D002465:Cell Movement; D002648:Child; D004827:Epilepsy / Q000175:diagnosis* / Q000235:genetics; D005192:Family Health; D006801:Humans; D008297:Male; D009207:Myoclonus / Q000235:genetics; D009474:Neurons / Q000473:pathology; D009778:Occipital Lobe / Q000473:pathology; D013132:Spinocerebellar Degenerations / Q000150:complications