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

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.

• Authors: Simona Giovannini, Daniele Frattini, Angela Scarano, Carlo Fusco, Gianna Bertani, Elvio Della Giustina, Paola Martinelli, Daniela Orteschi, Marcella Zollino, Giovanni Neri, Giuseppe Gobbi
• Journal: Epileptic disorders : international epilepsy journal with videotape (Epileptic Disord) Vol. 12 Issue 3 Pg. 222-7 (Sep 2010) ISSN: 1294-9361 [Print] France
• PMID: 20643614 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Child
• Chromosomes, Human, Pair 14 (genetics)
• Electroencephalography
• Epilepsies, Partial (complications, physiopathology)
• Humans
• Infant
• Male
• Ring Chromosomes
• Seizures (complications, physiopathology)
• Sleep (physiology)
• Status Epilepticus (genetics, physiopathology)
• Wakefulness (physiology)