Epilepsy in metabolic and degenerative diseases in childhood: A case series

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We report a series of 168 children (diagnosed at less than 10 years of age) affected by metabolic and degenerative diseases, in whom the incidence and the electroclinical features of epilepsy have been reviewed. Seizures occurred in 60 cases (35% of the whole series), and were one of the presenting symptoms of the disease in 31 patients. In a further 8 cases seizures resulted from a metabolic imbalance or occurred during hyperpyrexia, and in the remaining 21 cases seizures appeared late during the course of the disease. Early onset epilepsy was observed in Krabbe disease, mitochondrial encephalopathy, and peroxisomal disorders. In these cases epilepsy did not show distinctive features, although the severity of epilepsy and some electroclinical features supported the hypothesis of progressive disease. In particular we observed: occurrence of partial status in the neonatal period and presence of EEC parieto-occipital epileptic activity in mitochondrial encephalopathy; neonatal partial and myoclonic seizures associated with fast EEG activity in peroxisomal disorders. Furthermore, in different metabolic disorders we observed spasms with prolonged tonic components and "modified" hypsarrhythmia. A distinctive electroclinical pattern was observed in the 10 patients affected by late infantile ceroid lipofuscinosis. In all of these cases, generalized non-convulsive seizures and myoclonias were associated with peculiar EEG findings: early disruption of the background activity, posterior spikes superimposed to high amplitude 2-2.5 Hz slow waves, multifocal spikes during slow sleep, peculiar response to low frequency ILS.

Original languageEnglish
Pages (from-to)343
Number of pages1
JournalItalian Journal of Neurological Sciences
Issue number5
Publication statusPublished - 1999

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)


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