John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the

Gelastic seizures in ring chromosome 20 syndrome: a case report with video illustration Volume 14, issue 2, June 2012

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  • Gelastic seizures in ring chromosome 20 syndrome: a case report with video illustration

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Authors
Clinic of Child Neurology, St. Naum University Hospital of Neurology and Psychiatry, Sofia, “Genica” Genetic and Medical-Diagnostic Laboratory, Sofia, Bulgaria, Epilepsy Unit, Neurology Department, University Hospital, Grenoble, France
  • Key words: frontal, gelastic, ring 20 syndrome, non-convulsive status epilepticus, hypermotor
  • DOI : 10.1684/epd.2012.0508
  • Page(s) : 181-6
  • Published in: 2012

Although increasingly recognised, ring chromosome 20 (r[20]) syndrome is still diagnosed with delay, sometimes leading to inappropriate presurgical evaluation. The focal, presumed frontal, character of the seizures manifesting with fear and hypermotor behaviour and episodes of non-convulsive status epilepticus (NCSE) are most typical, as well as cognitive impairment with behavioural problems and, sometimes, dysmorphic signs. We present a girl diagnosed at the age of 13 years who suffered from an atypical clinical presentation, with minimal cognitive problems, absence of dysmorphic symptoms, and hypermotor/gelastic seizures. [ Published with video sequences]