Epileptic spasms and abnormal neuronal migration

Francesco Mari, Renzo Guerrini

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Clinical history: We evaluated a 19-year-old woman with epileptic spasms, moderate cognitive impairment, and subcortical band heterotopia (Fig. 1, DCX gene mutation at c.557G>C: Arg186Pro) and treated her with antiepileptic drugs without success. She manifested prolonged series of epileptic spasms upon awakening, every day. These series lasted up to 1 hour causing repetitive drop attacks. In order to prevent injuries related to falls, the patient spent most of the morning in bed. At age 27 years, we decided to evaluate for a drug-resistant multifocal epilepsy. General history: Since age 3 years, brief atypical absences had appeared. Since age 12 years, a more coherent picture had emerged, characterized by epileptic spasms in association with focal motor and atypical absence seizures. Several antiepileptic drugs were introduced without any satisfactory response. Examination Neurological examination revealed moderate cognitive impairment. Prolonged video-EEG recordings captured several clusters of epileptic spasms upon awakening (Fig. 2). Image findings MRI showed subcortical band heterotopia. Follow-up: At 28 years of age, anterior callosotomy was performed with remarkable reduction of the spasms (Fig. 3) and drop attacks. Diagnosis: Subcortical band heterotopia, drug-resistant epileptic spasms, moderate cognitive impairment.

Original languageEnglish
Title of host publicationCase Studies in Epilepsy: Common and Uncommon Presentations
PublisherCambridge University Press
Pages28-30
Number of pages3
ISBN (Print)9780511706103, 9780521167123
DOIs
Publication statusPublished - Jan 1 2012

Fingerprint

Spasm
Classical Lissencephalies and Subcortical Band Heterotopias
Syncope
Anticonvulsants
Absence Epilepsy
Video Recording
Neurologic Examination
Electroencephalography
History
Mutation
Wounds and Injuries
Pharmaceutical Preparations
Genes
Cognitive Dysfunction

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Mari, F., & Guerrini, R. (2012). Epileptic spasms and abnormal neuronal migration. In Case Studies in Epilepsy: Common and Uncommon Presentations (pp. 28-30). Cambridge University Press. https://doi.org/10.1017/CBO9780511706103.011

Epileptic spasms and abnormal neuronal migration. / Mari, Francesco; Guerrini, Renzo.

Case Studies in Epilepsy: Common and Uncommon Presentations. Cambridge University Press, 2012. p. 28-30.

Research output: Chapter in Book/Report/Conference proceedingChapter

Mari, F & Guerrini, R 2012, Epileptic spasms and abnormal neuronal migration. in Case Studies in Epilepsy: Common and Uncommon Presentations. Cambridge University Press, pp. 28-30. https://doi.org/10.1017/CBO9780511706103.011
Mari F, Guerrini R. Epileptic spasms and abnormal neuronal migration. In Case Studies in Epilepsy: Common and Uncommon Presentations. Cambridge University Press. 2012. p. 28-30 https://doi.org/10.1017/CBO9780511706103.011
Mari, Francesco ; Guerrini, Renzo. / Epileptic spasms and abnormal neuronal migration. Case Studies in Epilepsy: Common and Uncommon Presentations. Cambridge University Press, 2012. pp. 28-30
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