The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS

Emanuele Bartolini, Melania Falchi, Francesco Zellini, Elena Parrini, Laura Grisotto, Mirco Cosottini, Annio Posar, Antonia Parmeggiani, Giovanni Ambrosetto, Anna Rita Ferrari, Margherita Santucci, Javier Salas-Puig, Carmen Barba, Renzo Guerrini

Research output: Contribution to journalArticle

Abstract

Objective: We explored the long-term follow-up of continuous spike-and-wave complexes during sleep (CSWS) in polymicrogyria and the anatomic volumetric variables that influence the risk of developing this age-related epileptic encephalopathy. Methods: We performed prospective follow-up of 27 patients with polymicrogyria/CSWS (mean follow-up 14.3 years; range 2-31 years) and comparative volumetric analysis of the polymicrogyric hemispheres and ipsilateral thalami vs 3 subgroups featuring polymicrogyria without CSWS, benign rolandic epilepsy (BRE), and headache. Receiver operator characteristic analysis of the power of volumetric values was determined to predict CSWS. Results: CSWS peaked between 5 and 7 years (mean age at onset 4.7 years). Remission occurred within 2 years from onset in 21%, within 4 years in 50%, and by age 13 years in 100%. We found smaller thalamic and hemispheric volumes in polymicrogyria/CSWS with respect to polymicrogyria without CSWS (p 0.0021 for hemispheres; p 0.0003 for thalami), BRE, and controls with headache (p <0.0001). Volumes of the malformed hemispheres and ipsilateral thalami reliably identified the risk of incurring CSWS, with a 68-fold increased risk for values lower than optimal diagnostic cutoffs (436,150 mm 3 for malformed hemispheres or 4,616 mm 3 for ipsilateral thalami; sensitivity 92.54%; specificity 84.62%). The risk increased by 2% for every 1,000 mm 3 reduction of the polymicrogyric hemispheres and by 15% for every 100 mm 3 reduction of ipsilateral thalami. Conclusions: The polymicrogyria/CSWS syndrome is likely caused by a cortico-thalamic malformation complex and is characterized by remission of epilepsy within early adolescence. Early assessment of hemispheric and thalamic volumes in children with polymicrogyria and epilepsy can reliably predict CSWS.

Original languageEnglish
Pages (from-to)1250-1259
Number of pages10
JournalNeurology
Volume86
Issue number13
DOIs
Publication statusPublished - Mar 29 2016

ASJC Scopus subject areas

  • Clinical Neurology

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    Bartolini, E., Falchi, M., Zellini, F., Parrini, E., Grisotto, L., Cosottini, M., Posar, A., Parmeggiani, A., Ambrosetto, G., Ferrari, A. R., Santucci, M., Salas-Puig, J., Barba, C., & Guerrini, R. (2016). The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS. Neurology, 86(13), 1250-1259. https://doi.org/10.1212/WNL.0000000000002526