Epilepsy and Electroencephalographic Findings in Pericentric Inversion of Chromosome 12
| Autor: | Martina Balestri, M. A. Farnetani, Paolo Balestri, Lucia Pucci, Cecilia Anichini, Rosanna Maria Di Bartolo, Rosa Mostardini, Daniela Galimberti, Guido Morgese, Salvatore Grosso |
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| Rok vydání: | 2004 |
| Předmět: |
Adult
Pediatrics medicine.medical_specialty Electroencephalography Temporal lobe Myoclonic absences 03 medical and health sciences Epilepsy 0302 clinical medicine 030225 pediatrics medicine Humans Child Chromosome 12 Chromosomal inversion Genetics Chromosomes Human Pair 12 medicine.diagnostic_test Brain Semiology medicine.disease Karyotyping Chromosome Inversion Pediatrics Perinatology and Child Health Female Neurology (clinical) Trisomy Psychology 030217 neurology & neurosurgery |
| Zdroj: | Journal of Child Neurology. 19:604-608 |
| ISSN: | 1708-8283 0883-0738 |
| DOI: | 10.1177/088307380401900807 |
| Popis: | Epilepsy, together with mental retardation, represents a common manifestation of chromosomal aberrations. Specific electroencephalographic (EEG) and epileptic patterns have been described in several chromosomal disorders, such as Angelman's syndrome, Miller-Dieker syndrome, Wolf-Hirschhorn syndrome, and ring 20 syndrome. A peculiar electroclinical pattern has also been identified in trisomy 12p syndrome. We report three patients with a pericentric inversion of chromosome 12, with breakpoints localized to p11-q13 and affected by epilepsy or EEG anomalies. Two suffered from epilepsy, which, in the clinical course, was mainly characterized by complex partial seizures with a semiology related to the temporal lobe. In one patient, myoclonic absences, head drop, and massive jerky attacks were also present. In both patients, generalized 3 Hz bursts were registered, together with multifocal and focal paroxysmal activity, which were most prominent in the temporoparietal and temporal areas, respectively. In the other patient, who had no epilepsy, EEG showed bioccipital paroxysmal activity. In all patients, the clinical picture was characterized by the presence of moderate mental retardation and behavioral disorders. The incidence of epilepsy or EEG anomalies among patients with a pericentric inversion of chromosome 12 remains to be ascertained. However, the present study confirms that chromosome 12 anomalies can be associated with epilepsy. Although myoclonic absence-like episodes can occasionally be part of the epileptic phenotype, the electroclinical pattern in pericentric inversion of chromosome 12 seems to be more polymorphic when compared with that observed in trisomy 12p syndrome. (J Child Neurol 2004;19:604-608). |
| Databáze: | OpenAIRE |
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