Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome

Simona Giovannini, Daniele Frattini, Angela Scarano, Carlo Fusco, Gianna Bertani, Elvio Della Giustina, Paola Martinelli, Daniela Orteschi, Marcella Zollino, Giovanni Giovanni, Giuseppe Gobbi

Research output: Contribution to journalArticlepeer-review

Abstract

Epilepsy is the most common and serious neurological symptom in ring chromosome 14 syndrome, also characterised by mild dysmorphisms, acquired microcephaly, cognitive impairment, hypotonia and ocular abnormalities. Typically, early-onset, polymorphous and drug-resistant seizures are reported. Status epilepticus has not been previously reported. We describe a nine-year-old Caucasian boy with ring 14 syndrome who presented a severe early-onset and drug-resistant focal epilepsy with secondary generalised seizures and repetitive episodes of convulsive and non-convulsive status epilepticus. The electro-clinical evaluation of prolonged seizures and their long-term consequences is important for the practical management of these patients and for a better comprehension of the syndrome.

Original languageEnglish
Pages (from-to)222-227
Number of pages6
JournalEpileptic Disorders
Volume12
Issue number3
DOIs
Publication statusPublished - Sep 2010

Keywords

  • epilepsy
  • nonconvulsive status epilepticus
  • ring 14 chromosome
  • status epilepticus

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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