Infantile spasms followed by childhood absence epilepsy: A case series

Lucio Giordano, Renato Tambucci, Isabella Emanuela Cocco, Marco Angriman, Giangennaro Coppola, Francesca Felicia Operto, Giovanni Farello, Salvatore Savasta, Vincenzo Belcastro, Alberto Verrotti

Research output: Contribution to journalArticle

Abstract

Purpose: Infantile spasms (IS) represent a severe seizure disorder of infancy and early childhood characterized by epileptic spasms along with hypsarrhythmia often accompanied by intellectual disability. According to the current classification and terminology (3) IS can be categorized as known etiology, formerly known as “symptomatic”, when an underlying cause has been observed prior to the onset of spasms, or of “unknown cause” with “unfavorable” and “favorable” outcome (previously referred as “cryptogenic” or “idiopathic”, respectively). Single reports described children with “unknown cause and favorable outcome” (UC/FO) IS who later developed childhood absence epilepsy (CAE). This study aims to determine the prevalence of CAE following IS. Methods: a multicenter retrospective chart review was performed; children with UC/FO IS who subsequently developed CAE during follow-up were identified. Eight Italian pediatric epilepsy centers participated in this study. Results: seven out of 24 (29 %) children (3 males) showing a favorable outcome (UC/FO) IS received a second diagnosis of CAE during follow-up. Mean age at IS presentation was 5.8 months (SD ± 0.9). All achieved seizure control of IS at a mean age of 8.5 months (SD ± 1.3) (3 monotherapy, 4 polytherapy). CAE was diagnosed at a mean age of 8.0 years (SD ± 3.0). Six children achieved sustained remission of CAE with valproic acid, whereas 1 child required dual therapy by adding ethosuximide. Conclusion: although it is not possible to determine whether the association between UC/FO IS and CAE implies a causality relationship, the later occurrence of CAE in patients with UC/FO IS might support a possible role of thalamo-cortical dysfunction.

Original languageEnglish
Pages (from-to)77-80
Number of pages4
JournalSeizure
Volume74
DOIs
Publication statusPublished - Jan 2020

Fingerprint

Infantile Spasms
Absence Epilepsy
Spasm
Epilepsy
Ethosuximide
Valproic Acid
Terminology
Intellectual Disability
Causality
Seizures

Keywords

  • Childhood absence epilepsy
  • Childhood epilepsy
  • Infantile spasms

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Giordano, L., Tambucci, R., Cocco, I. E., Angriman, M., Coppola, G., Operto, F. F., ... Verrotti, A. (2020). Infantile spasms followed by childhood absence epilepsy: A case series. Seizure, 74, 77-80. https://doi.org/10.1016/j.seizure.2019.12.007

Infantile spasms followed by childhood absence epilepsy : A case series. / Giordano, Lucio; Tambucci, Renato; Cocco, Isabella Emanuela; Angriman, Marco; Coppola, Giangennaro; Operto, Francesca Felicia; Farello, Giovanni; Savasta, Salvatore; Belcastro, Vincenzo; Verrotti, Alberto.

In: Seizure, Vol. 74, 01.2020, p. 77-80.

Research output: Contribution to journalArticle

Giordano, L, Tambucci, R, Cocco, IE, Angriman, M, Coppola, G, Operto, FF, Farello, G, Savasta, S, Belcastro, V & Verrotti, A 2020, 'Infantile spasms followed by childhood absence epilepsy: A case series', Seizure, vol. 74, pp. 77-80. https://doi.org/10.1016/j.seizure.2019.12.007
Giordano L, Tambucci R, Cocco IE, Angriman M, Coppola G, Operto FF et al. Infantile spasms followed by childhood absence epilepsy: A case series. Seizure. 2020 Jan;74:77-80. https://doi.org/10.1016/j.seizure.2019.12.007
Giordano, Lucio ; Tambucci, Renato ; Cocco, Isabella Emanuela ; Angriman, Marco ; Coppola, Giangennaro ; Operto, Francesca Felicia ; Farello, Giovanni ; Savasta, Salvatore ; Belcastro, Vincenzo ; Verrotti, Alberto. / Infantile spasms followed by childhood absence epilepsy : A case series. In: Seizure. 2020 ; Vol. 74. pp. 77-80.
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abstract = "Purpose: Infantile spasms (IS) represent a severe seizure disorder of infancy and early childhood characterized by epileptic spasms along with hypsarrhythmia often accompanied by intellectual disability. According to the current classification and terminology (3) IS can be categorized as known etiology, formerly known as “symptomatic”, when an underlying cause has been observed prior to the onset of spasms, or of “unknown cause” with “unfavorable” and “favorable” outcome (previously referred as “cryptogenic” or “idiopathic”, respectively). Single reports described children with “unknown cause and favorable outcome” (UC/FO) IS who later developed childhood absence epilepsy (CAE). This study aims to determine the prevalence of CAE following IS. Methods: a multicenter retrospective chart review was performed; children with UC/FO IS who subsequently developed CAE during follow-up were identified. Eight Italian pediatric epilepsy centers participated in this study. Results: seven out of 24 (29 {\%}) children (3 males) showing a favorable outcome (UC/FO) IS received a second diagnosis of CAE during follow-up. Mean age at IS presentation was 5.8 months (SD ± 0.9). All achieved seizure control of IS at a mean age of 8.5 months (SD ± 1.3) (3 monotherapy, 4 polytherapy). CAE was diagnosed at a mean age of 8.0 years (SD ± 3.0). Six children achieved sustained remission of CAE with valproic acid, whereas 1 child required dual therapy by adding ethosuximide. Conclusion: although it is not possible to determine whether the association between UC/FO IS and CAE implies a causality relationship, the later occurrence of CAE in patients with UC/FO IS might support a possible role of thalamo-cortical dysfunction.",
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AU - Giordano, Lucio

AU - Tambucci, Renato

AU - Cocco, Isabella Emanuela

AU - Angriman, Marco

AU - Coppola, Giangennaro

AU - Operto, Francesca Felicia

AU - Farello, Giovanni

AU - Savasta, Salvatore

AU - Belcastro, Vincenzo

AU - Verrotti, Alberto

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N2 - Purpose: Infantile spasms (IS) represent a severe seizure disorder of infancy and early childhood characterized by epileptic spasms along with hypsarrhythmia often accompanied by intellectual disability. According to the current classification and terminology (3) IS can be categorized as known etiology, formerly known as “symptomatic”, when an underlying cause has been observed prior to the onset of spasms, or of “unknown cause” with “unfavorable” and “favorable” outcome (previously referred as “cryptogenic” or “idiopathic”, respectively). Single reports described children with “unknown cause and favorable outcome” (UC/FO) IS who later developed childhood absence epilepsy (CAE). This study aims to determine the prevalence of CAE following IS. Methods: a multicenter retrospective chart review was performed; children with UC/FO IS who subsequently developed CAE during follow-up were identified. Eight Italian pediatric epilepsy centers participated in this study. Results: seven out of 24 (29 %) children (3 males) showing a favorable outcome (UC/FO) IS received a second diagnosis of CAE during follow-up. Mean age at IS presentation was 5.8 months (SD ± 0.9). All achieved seizure control of IS at a mean age of 8.5 months (SD ± 1.3) (3 monotherapy, 4 polytherapy). CAE was diagnosed at a mean age of 8.0 years (SD ± 3.0). Six children achieved sustained remission of CAE with valproic acid, whereas 1 child required dual therapy by adding ethosuximide. Conclusion: although it is not possible to determine whether the association between UC/FO IS and CAE implies a causality relationship, the later occurrence of CAE in patients with UC/FO IS might support a possible role of thalamo-cortical dysfunction.

AB - Purpose: Infantile spasms (IS) represent a severe seizure disorder of infancy and early childhood characterized by epileptic spasms along with hypsarrhythmia often accompanied by intellectual disability. According to the current classification and terminology (3) IS can be categorized as known etiology, formerly known as “symptomatic”, when an underlying cause has been observed prior to the onset of spasms, or of “unknown cause” with “unfavorable” and “favorable” outcome (previously referred as “cryptogenic” or “idiopathic”, respectively). Single reports described children with “unknown cause and favorable outcome” (UC/FO) IS who later developed childhood absence epilepsy (CAE). This study aims to determine the prevalence of CAE following IS. Methods: a multicenter retrospective chart review was performed; children with UC/FO IS who subsequently developed CAE during follow-up were identified. Eight Italian pediatric epilepsy centers participated in this study. Results: seven out of 24 (29 %) children (3 males) showing a favorable outcome (UC/FO) IS received a second diagnosis of CAE during follow-up. Mean age at IS presentation was 5.8 months (SD ± 0.9). All achieved seizure control of IS at a mean age of 8.5 months (SD ± 1.3) (3 monotherapy, 4 polytherapy). CAE was diagnosed at a mean age of 8.0 years (SD ± 3.0). Six children achieved sustained remission of CAE with valproic acid, whereas 1 child required dual therapy by adding ethosuximide. Conclusion: although it is not possible to determine whether the association between UC/FO IS and CAE implies a causality relationship, the later occurrence of CAE in patients with UC/FO IS might support a possible role of thalamo-cortical dysfunction.

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