Lennox-Gastaut syndrome with late-onset and prominent reflex seizures in trisomy 21 patients

Edoardo Ferlazzo, Constant K. Adjien, Renzo Guerrini, Tiziana Calarese, Arielle Crespel, Maurizio Elia, Pasquale Striano, Philippe Gelisse, Placido Bramanti, Paolo Di Bella, Pierre Genton

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

Purpose: Lennox-Gastaut syndrome (LGS) is a severe epileptic condition characterized by multiple seizure types including tonic seizures, slow spike-and-wave discharges on electroencephalography (EEG), and cognitive impairment. LGS can occur in apparently healthy subjects or in patients with preexisting brain damage. The onset peaks between 3 and 5 years of age and the prognosis is usually poor. Herein we report 13 subjects with trisomy 21 who developed LGS. Methods: We retrospectively reviewed the clinical and EEG data of consecutive patients with LGS and trisomy 21 referred to five epilepsy centers over the last 30 years. Results: Data for 13 patients (8 male, 5 female) were collected. The mean age at onset was 9.1 years (range 5-16). The mean age at last follow-up was 23.5 years (range 11-43 years). Seizure onset was after age 8 years in eight (62%) patients and between age 5 and 8 in the other five. In none of the cases did a West syndrome precede the onset of LGS. Nine of 13 patients (69%) had unambiguous reflex seizures, mostly precipitated by sudden unexpected sensory stimulations, usually preceding or accompanying the onset of a full-blown LGS picture. Interictal and ictal EEG findings were typical for LGS. All patients were drug-resistant. Discussion: Patients with trisomy 21 may present a peculiar LGS, characterized by late onset and high occurrence of reflex seizures. Mechanisms underlying this particular presentation of LGS may include dendritic rarefaction and decreased interneurons, as well as functional abnormalities leading to overall decreased brain inhibition in these patients.

Original languageEnglish
Pages (from-to)1587-1595
Number of pages9
JournalEpilepsia
Volume50
Issue number6
DOIs
Publication statusPublished - Jun 2009

Fingerprint

Down Syndrome
Reflex
Seizures
Electroencephalography
Lennox Gastaut Syndrome
Infantile Spasms
Brain
Interneurons
Age of Onset
Epilepsy
Healthy Volunteers
Stroke
Pharmaceutical Preparations

Keywords

  • Epilepsy
  • Lennox-Gastaut syndrome
  • Reflex seizures
  • Trisomy 21

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Lennox-Gastaut syndrome with late-onset and prominent reflex seizures in trisomy 21 patients. / Ferlazzo, Edoardo; Adjien, Constant K.; Guerrini, Renzo; Calarese, Tiziana; Crespel, Arielle; Elia, Maurizio; Striano, Pasquale; Gelisse, Philippe; Bramanti, Placido; Di Bella, Paolo; Genton, Pierre.

In: Epilepsia, Vol. 50, No. 6, 06.2009, p. 1587-1595.

Research output: Contribution to journalArticle

Ferlazzo, Edoardo ; Adjien, Constant K. ; Guerrini, Renzo ; Calarese, Tiziana ; Crespel, Arielle ; Elia, Maurizio ; Striano, Pasquale ; Gelisse, Philippe ; Bramanti, Placido ; Di Bella, Paolo ; Genton, Pierre. / Lennox-Gastaut syndrome with late-onset and prominent reflex seizures in trisomy 21 patients. In: Epilepsia. 2009 ; Vol. 50, No. 6. pp. 1587-1595.
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AU - Ferlazzo, Edoardo

AU - Adjien, Constant K.

AU - Guerrini, Renzo

AU - Calarese, Tiziana

AU - Crespel, Arielle

AU - Elia, Maurizio

AU - Striano, Pasquale

AU - Gelisse, Philippe

AU - Bramanti, Placido

AU - Di Bella, Paolo

AU - Genton, Pierre

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N2 - Purpose: Lennox-Gastaut syndrome (LGS) is a severe epileptic condition characterized by multiple seizure types including tonic seizures, slow spike-and-wave discharges on electroencephalography (EEG), and cognitive impairment. LGS can occur in apparently healthy subjects or in patients with preexisting brain damage. The onset peaks between 3 and 5 years of age and the prognosis is usually poor. Herein we report 13 subjects with trisomy 21 who developed LGS. Methods: We retrospectively reviewed the clinical and EEG data of consecutive patients with LGS and trisomy 21 referred to five epilepsy centers over the last 30 years. Results: Data for 13 patients (8 male, 5 female) were collected. The mean age at onset was 9.1 years (range 5-16). The mean age at last follow-up was 23.5 years (range 11-43 years). Seizure onset was after age 8 years in eight (62%) patients and between age 5 and 8 in the other five. In none of the cases did a West syndrome precede the onset of LGS. Nine of 13 patients (69%) had unambiguous reflex seizures, mostly precipitated by sudden unexpected sensory stimulations, usually preceding or accompanying the onset of a full-blown LGS picture. Interictal and ictal EEG findings were typical for LGS. All patients were drug-resistant. Discussion: Patients with trisomy 21 may present a peculiar LGS, characterized by late onset and high occurrence of reflex seizures. Mechanisms underlying this particular presentation of LGS may include dendritic rarefaction and decreased interneurons, as well as functional abnormalities leading to overall decreased brain inhibition in these patients.

AB - Purpose: Lennox-Gastaut syndrome (LGS) is a severe epileptic condition characterized by multiple seizure types including tonic seizures, slow spike-and-wave discharges on electroencephalography (EEG), and cognitive impairment. LGS can occur in apparently healthy subjects or in patients with preexisting brain damage. The onset peaks between 3 and 5 years of age and the prognosis is usually poor. Herein we report 13 subjects with trisomy 21 who developed LGS. Methods: We retrospectively reviewed the clinical and EEG data of consecutive patients with LGS and trisomy 21 referred to five epilepsy centers over the last 30 years. Results: Data for 13 patients (8 male, 5 female) were collected. The mean age at onset was 9.1 years (range 5-16). The mean age at last follow-up was 23.5 years (range 11-43 years). Seizure onset was after age 8 years in eight (62%) patients and between age 5 and 8 in the other five. In none of the cases did a West syndrome precede the onset of LGS. Nine of 13 patients (69%) had unambiguous reflex seizures, mostly precipitated by sudden unexpected sensory stimulations, usually preceding or accompanying the onset of a full-blown LGS picture. Interictal and ictal EEG findings were typical for LGS. All patients were drug-resistant. Discussion: Patients with trisomy 21 may present a peculiar LGS, characterized by late onset and high occurrence of reflex seizures. Mechanisms underlying this particular presentation of LGS may include dendritic rarefaction and decreased interneurons, as well as functional abnormalities leading to overall decreased brain inhibition in these patients.

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