Abstract:
:The spectrum of clinical disease in juvenile Huntington's disease differs from that seen in adults. Younger patients often present with seizures, dystonia and rigidity. The mechanism and type of seizures, timing of onset and electrographic features have not been well characterized in either adults or children. We describe the electroencephalographic findings observed in a young child with Huntington's disease who presented with motor regression and seizures. Recordings demonstrated bilateral posterior quadrant epileptiform discharges and occipital intermittent rhythmic delta activity, generally considered a nonspecific abnormality. These findings have not been reported in adult or juvenile Huntington's disease. Its presence in proximity to bilateral posterior spikes suggests that occipital intermittent rhythmic delta activity is an epileptiform abnormality, on a continuum with the posterior spike-and-wave discharges. Intermittent rhythmic delta activity can occur secondary to either the subcortical gray-matter disease or the associated seizure disorder. Huntington's disease should be considered in the differential diagnosis of young children who present with seizures and developmental regression.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Ullrich NJ,Riviello JJ Jr,Darras BT,Donner EJsubject
Has Abstractpub_date
2004-07-01 00:00:00pages
541-3issue
7eissn
0883-0738issn
1708-8283journal_volume
19pub_type
杂志文章abstract::High throughput sequencing is discovering many likely causative genetic variants in individuals with cerebral palsy. Some investigators have suggested that this changes the clinical diagnosis of cerebral palsy and that these individuals should be removed from this diagnostic category. Cerebral palsy is a neurodevelopm...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073819840449
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journal_title:Journal of child neurology
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doi:10.1177/08830738060210042301
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abstract::Cortical dysplasia is now recognized as one of the major etiologies causing intractable epilepsy in childhood. Dysplastic cortex displays cortical dyslamination, which is often associated with dysmorphic large neurons and less frequently with balloon cells. The dysmorphic large neurons are commonly located in the subc...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
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journal_title:Journal of child neurology
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journal_title:Journal of child neurology
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journal_title:Journal of child neurology
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journal_title:Journal of child neurology
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journal_title:Journal of child neurology
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journal_title:Journal of child neurology
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journal_title:Journal of child neurology
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journal_title:Journal of child neurology
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