title: The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS.
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.
authors.affiliation: From the Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital (E.B., M.F., F.Z., E.P., C.B., R.G.), and Department of Statistics, Computer Science and Applications "G. Parenti" (L.G.), University of Florence; Department of Translational Research and New Surgical and Medical Technologies (M.C.), University of Pisa; Unit of Neuroradiology (M.C.), Pisa University Hospital "Azienda Ospedaliero-Universitaria Pisana"; Child Neurology and Psychiatry Unit (A. Posar, M.S.), IRCCS Institute of Neurological Sciences of Bologna; Departments of Biomedical and Neuromotor Sciences (A. Posar, M.S.) and Medical and Surgical Sciences (A. Parmeggiani, G.A.), University of Bologna; Child Neurology and Psychiatry Unit (A. Parmeggiani), Policlinico S. Orsola-Malpighi, Bologna; IRCCS Stella Maris Foundation (E.B., A.R.F., R.G.), Calambrone, Pisa, Italy; and the Epilepsy Unit, Department of Neurology (J.S.-P.), Hospital Vall Hebron, Barcelona, Spain.
authors.forename: Emanuele
authors.initials: E
authors.lastname: Bartolini
authors.affiliation: From the Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital (E.B., M.F., F.Z., E.P., C.B., R.G.), and Department of Statistics, Computer Science and Applications "G. Parenti" (L.G.), University of Florence; Department of Translational Research and New Surgical and Medical Technologies (M.C.), University of Pisa; Unit of Neuroradiology (M.C.), Pisa University Hospital "Azienda Ospedaliero-Universitaria Pisana"; Child Neurology and Psychiatry Unit (A. Posar, M.S.), IRCCS Institute of Neurological Sciences of Bologna; Departments of Biomedical and Neuromotor Sciences (A. Posar, M.S.) and Medical and Surgical Sciences (A. Parmeggiani, G.A.), University of Bologna; Child Neurology and Psychiatry Unit (A. Parmeggiani), Policlinico S. Orsola-Malpighi, Bologna; IRCCS Stella Maris Foundation (E.B., A.R.F., R.G.), Calambrone, Pisa, Italy; and the Epilepsy Unit, Department of Neurology (J.S.-P.), Hospital Vall Hebron, Barcelona, Spain.
authors.forename: Melania
authors.initials: M
authors.lastname: Falchi
authors.affiliation: From the Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital (E.B., M.F., F.Z., E.P., C.B., R.G.), and Department of Statistics, Computer Science and Applications "G. Parenti" (L.G.), University of Florence; Department of Translational Research and New Surgical and Medical Technologies (M.C.), University of Pisa; Unit of Neuroradiology (M.C.), Pisa University Hospital "Azienda Ospedaliero-Universitaria Pisana"; Child Neurology and Psychiatry Unit (A. Posar, M.S.), IRCCS Institute of Neurological Sciences of Bologna; Departments of Biomedical and Neuromotor Sciences (A. Posar, M.S.) and Medical and Surgical Sciences (A. Parmeggiani, G.A.), University of Bologna; Child Neurology and Psychiatry Unit (A. Parmeggiani), Policlinico S. Orsola-Malpighi, Bologna; IRCCS Stella Maris Foundation (E.B., A.R.F., R.G.), Calambrone, Pisa, Italy; and the Epilepsy Unit, Department of Neurology (J.S.-P.), Hospital Vall Hebron, Barcelona, Spain.
authors.forename: Francesco
authors.initials: F
authors.lastname: Zellini
authors.affiliation: From the Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital (E.B., M.F., F.Z., E.P., C.B., R.G.), and Department of Statistics, Computer Science and Applications "G. Parenti" (L.G.), University of Florence; Department of Translational Research and New Surgical and Medical Technologies (M.C.), University of Pisa; Unit of Neuroradiology (M.C.), Pisa University Hospital "Azienda Ospedaliero-Universitaria Pisana"; Child Neurology and Psychiatry Unit (A. Posar, M.S.), IRCCS Institute of Neurological Sciences of Bologna; Departments of Biomedical and Neuromotor Sciences (A. Posar, M.S.) and Medical and Surgical Sciences (A. Parmeggiani, G.A.), University of Bologna; Child Neurology and Psychiatry Unit (A. Parmeggiani), Policlinico S. Orsola-Malpighi, Bologna; IRCCS Stella Maris Foundation (E.B., A.R.F., R.G.), Calambrone, Pisa, Italy; and the Epilepsy Unit, Department of Neurology (J.S.-P.), Hospital Vall Hebron, Barcelona, Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: Parrini
authors.affiliation: From the Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital (E.B., M.F., F.Z., E.P., C.B., R.G.), and Department of Statistics, Computer Science and Applications "G. Parenti" (L.G.), University of Florence; Department of Translational Research and New Surgical and Medical Technologies (M.C.), University of Pisa; Unit of Neuroradiology (M.C.), Pisa University Hospital "Azienda Ospedaliero-Universitaria Pisana"; Child Neurology and Psychiatry Unit (A. Posar, M.S.), IRCCS Institute of Neurological Sciences of Bologna; Departments of Biomedical and Neuromotor Sciences (A. Posar, M.S.) and Medical and Surgical Sciences (A. Parmeggiani, G.A.), University of Bologna; Child Neurology and Psychiatry Unit (A. Parmeggiani), Policlinico S. Orsola-Malpighi, Bologna; IRCCS Stella Maris Foundation (E.B., A.R.F., R.G.), Calambrone, Pisa, Italy; and the Epilepsy Unit, Department of Neurology (J.S.-P.), Hospital Vall Hebron, Barcelona, Spain.
authors.forename: Laura
authors.initials: L
authors.lastname: Grisotto
authors.affiliation: From the Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital (E.B., M.F., F.Z., E.P., C.B., R.G.), and Department of Statistics, Computer Science and Applications "G. Parenti" (L.G.), University of Florence; Department of Translational Research and New Surgical and Medical Technologies (M.C.), University of Pisa; Unit of Neuroradiology (M.C.), Pisa University Hospital "Azienda Ospedaliero-Universitaria Pisana"; Child Neurology and Psychiatry Unit (A. Posar, M.S.), IRCCS Institute of Neurological Sciences of Bologna; Departments of Biomedical and Neuromotor Sciences (A. Posar, M.S.) and Medical and Surgical Sciences (A. Parmeggiani, G.A.), University of Bologna; Child Neurology and Psychiatry Unit (A. Parmeggiani), Policlinico S. Orsola-Malpighi, Bologna; IRCCS Stella Maris Foundation (E.B., A.R.F., R.G.), Calambrone, Pisa, Italy; and the Epilepsy Unit, Department of Neurology (J.S.-P.), Hospital Vall Hebron, Barcelona, Spain.
authors.forename: Mirco
authors.initials: M
authors.lastname: Cosottini
authors.affiliation: From the Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital (E.B., M.F., F.Z., E.P., C.B., R.G.), and Department of Statistics, Computer Science and Applications "G. Parenti" (L.G.), University of Florence; Department of Translational Research and New Surgical and Medical Technologies (M.C.), University of Pisa; Unit of Neuroradiology (M.C.), Pisa University Hospital "Azienda Ospedaliero-Universitaria Pisana"; Child Neurology and Psychiatry Unit (A. Posar, M.S.), IRCCS Institute of Neurological Sciences of Bologna; Departments of Biomedical and Neuromotor Sciences (A. Posar, M.S.) and Medical and Surgical Sciences (A. Parmeggiani, G.A.), University of Bologna; Child Neurology and Psychiatry Unit (A. Parmeggiani), Policlinico S. Orsola-Malpighi, Bologna; IRCCS Stella Maris Foundation (E.B., A.R.F., R.G.), Calambrone, Pisa, Italy; and the Epilepsy Unit, Department of Neurology (J.S.-P.), Hospital Vall Hebron, Barcelona, Spain.
authors.forename: Annio
authors.initials: A
authors.lastname: Posar
authors.affiliation: From the Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital (E.B., M.F., F.Z., E.P., C.B., R.G.), and Department of Statistics, Computer Science and Applications "G. Parenti" (L.G.), University of Florence; Department of Translational Research and New Surgical and Medical Technologies (M.C.), University of Pisa; Unit of Neuroradiology (M.C.), Pisa University Hospital "Azienda Ospedaliero-Universitaria Pisana"; Child Neurology and Psychiatry Unit (A. Posar, M.S.), IRCCS Institute of Neurological Sciences of Bologna; Departments of Biomedical and Neuromotor Sciences (A. Posar, M.S.) and Medical and Surgical Sciences (A. Parmeggiani, G.A.), University of Bologna; Child Neurology and Psychiatry Unit (A. Parmeggiani), Policlinico S. Orsola-Malpighi, Bologna; IRCCS Stella Maris Foundation (E.B., A.R.F., R.G.), Calambrone, Pisa, Italy; and the Epilepsy Unit, Department of Neurology (J.S.-P.), Hospital Vall Hebron, Barcelona, Spain.
authors.forename: Antonia
authors.initials: A
authors.lastname: Parmeggiani
authors.affiliation: From the Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital (E.B., M.F., F.Z., E.P., C.B., R.G.), and Department of Statistics, Computer Science and Applications "G. Parenti" (L.G.), University of Florence; Department of Translational Research and New Surgical and Medical Technologies (M.C.), University of Pisa; Unit of Neuroradiology (M.C.), Pisa University Hospital "Azienda Ospedaliero-Universitaria Pisana"; Child Neurology and Psychiatry Unit (A. Posar, M.S.), IRCCS Institute of Neurological Sciences of Bologna; Departments of Biomedical and Neuromotor Sciences (A. Posar, M.S.) and Medical and Surgical Sciences (A. Parmeggiani, G.A.), University of Bologna; Child Neurology and Psychiatry Unit (A. Parmeggiani), Policlinico S. Orsola-Malpighi, Bologna; IRCCS Stella Maris Foundation (E.B., A.R.F., R.G.), Calambrone, Pisa, Italy; and the Epilepsy Unit, Department of Neurology (J.S.-P.), Hospital Vall Hebron, Barcelona, Spain.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Ambrosetto
authors.affiliation: From the Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital (E.B., M.F., F.Z., E.P., C.B., R.G.), and Department of Statistics, Computer Science and Applications "G. Parenti" (L.G.), University of Florence; Department of Translational Research and New Surgical and Medical Technologies (M.C.), University of Pisa; Unit of Neuroradiology (M.C.), Pisa University Hospital "Azienda Ospedaliero-Universitaria Pisana"; Child Neurology and Psychiatry Unit (A. Posar, M.S.), IRCCS Institute of Neurological Sciences of Bologna; Departments of Biomedical and Neuromotor Sciences (A. Posar, M.S.) and Medical and Surgical Sciences (A. Parmeggiani, G.A.), University of Bologna; Child Neurology and Psychiatry Unit (A. Parmeggiani), Policlinico S. Orsola-Malpighi, Bologna; IRCCS Stella Maris Foundation (E.B., A.R.F., R.G.), Calambrone, Pisa, Italy; and the Epilepsy Unit, Department of Neurology (J.S.-P.), Hospital Vall Hebron, Barcelona, Spain.
authors.forename: Anna Rita
authors.initials: AR
authors.lastname: Ferrari
authors.affiliation: From the Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital (E.B., M.F., F.Z., E.P., C.B., R.G.), and Department of Statistics, Computer Science and Applications "G. Parenti" (L.G.), University of Florence; Department of Translational Research and New Surgical and Medical Technologies (M.C.), University of Pisa; Unit of Neuroradiology (M.C.), Pisa University Hospital "Azienda Ospedaliero-Universitaria Pisana"; Child Neurology and Psychiatry Unit (A. Posar, M.S.), IRCCS Institute of Neurological Sciences of Bologna; Departments of Biomedical and Neuromotor Sciences (A. Posar, M.S.) and Medical and Surgical Sciences (A. Parmeggiani, G.A.), University of Bologna; Child Neurology and Psychiatry Unit (A. Parmeggiani), Policlinico S. Orsola-Malpighi, Bologna; IRCCS Stella Maris Foundation (E.B., A.R.F., R.G.), Calambrone, Pisa, Italy; and the Epilepsy Unit, Department of Neurology (J.S.-P.), Hospital Vall Hebron, Barcelona, Spain.
authors.forename: Margherita
authors.initials: M
authors.lastname: Santucci
authors.affiliation: From the Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital (E.B., M.F., F.Z., E.P., C.B., R.G.), and Department of Statistics, Computer Science and Applications "G. Parenti" (L.G.), University of Florence; Department of Translational Research and New Surgical and Medical Technologies (M.C.), University of Pisa; Unit of Neuroradiology (M.C.), Pisa University Hospital "Azienda Ospedaliero-Universitaria Pisana"; Child Neurology and Psychiatry Unit (A. Posar, M.S.), IRCCS Institute of Neurological Sciences of Bologna; Departments of Biomedical and Neuromotor Sciences (A. Posar, M.S.) and Medical and Surgical Sciences (A. Parmeggiani, G.A.), University of Bologna; Child Neurology and Psychiatry Unit (A. Parmeggiani), Policlinico S. Orsola-Malpighi, Bologna; IRCCS Stella Maris Foundation (E.B., A.R.F., R.G.), Calambrone, Pisa, Italy; and the Epilepsy Unit, Department of Neurology (J.S.-P.), Hospital Vall Hebron, Barcelona, Spain.
authors.forename: Javier
authors.initials: J
authors.lastname: Salas-Puig
authors.affiliation: From the Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital (E.B., M.F., F.Z., E.P., C.B., R.G.), and Department of Statistics, Computer Science and Applications "G. Parenti" (L.G.), University of Florence; Department of Translational Research and New Surgical and Medical Technologies (M.C.), University of Pisa; Unit of Neuroradiology (M.C.), Pisa University Hospital "Azienda Ospedaliero-Universitaria Pisana"; Child Neurology and Psychiatry Unit (A. Posar, M.S.), IRCCS Institute of Neurological Sciences of Bologna; Departments of Biomedical and Neuromotor Sciences (A. Posar, M.S.) and Medical and Surgical Sciences (A. Parmeggiani, G.A.), University of Bologna; Child Neurology and Psychiatry Unit (A. Parmeggiani), Policlinico S. Orsola-Malpighi, Bologna; IRCCS Stella Maris Foundation (E.B., A.R.F., R.G.), Calambrone, Pisa, Italy; and the Epilepsy Unit, Department of Neurology (J.S.-P.), Hospital Vall Hebron, Barcelona, Spain.
authors.forename: Carmen
authors.initials: C
authors.lastname: Barba
authors.affiliation: From the Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital (E.B., M.F., F.Z., E.P., C.B., R.G.), and Department of Statistics, Computer Science and Applications "G. Parenti" (L.G.), University of Florence; Department of Translational Research and New Surgical and Medical Technologies (M.C.), University of Pisa; Unit of Neuroradiology (M.C.), Pisa University Hospital "Azienda Ospedaliero-Universitaria Pisana"; Child Neurology and Psychiatry Unit (A. Posar, M.S.), IRCCS Institute of Neurological Sciences of Bologna; Departments of Biomedical and Neuromotor Sciences (A. Posar, M.S.) and Medical and Surgical Sciences (A. Parmeggiani, G.A.), University of Bologna; Child Neurology and Psychiatry Unit (A. Parmeggiani), Policlinico S. Orsola-Malpighi, Bologna; IRCCS Stella Maris Foundation (E.B., A.R.F., R.G.), Calambrone, Pisa, Italy; and the Epilepsy Unit, Department of Neurology (J.S.-P.), Hospital Vall Hebron, Barcelona, Spain. r.guerrini@meyer.it.
authors.forename: Renzo
authors.initials: R
authors.lastname: Guerrini
mesh_terms: D000200:Action Potentials / Q000502:physiology; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography / Q000379:methods; D019305:Epilepsy, Rolandic / Q000175:diagnosis* / Q000503:physiopathology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D065706:Polymicrogyria / Q000175:diagnosis* / Q000503:physiopathology*; D011446:Prospective Studies; D012894:Sleep Stages / Q000502:physiology; D013577:Syndrome; D013788:Thalamus / Q000473:pathology*