Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development

Journal of Neurology
Sara UccellaMariasavina Severino

Abstract

To describe the neurological phenotype of children with prenatal diagnosis of agenesis of corpus callosum (ACC) and interhemispheric cysts associated with malformations of cortical development (MCD). We reviewed the neuroimaging, neurologic, EEG, and genetic data of 36 patients (21 males, mean age 7 years) with ACC and interhemispheric cysts. Associations were tested with Chi-squared and Fisher exact tests. According to the 2001 Barkovich classification, we found 4 type 1c (11.1%), 6 type 2a (16.6%), 18 type 2b (50%, 6/18 girls with Aicardi syndrome), and 9 type 2c cysts (22.2%). EEG showed specific epileptic activity in 27/36 patients (75%). Epilepsy was diagnosed in 16 subjects (16/36, 44.4%), including all Aicardi patients, and was associated with cognitive impairment (p = 0.032). Severe intellectual disability and epilepsy were associated with type 2b cysts, always due to Aicardi patients (p < 0.05). After excluding Aicardi patients, all subjects with type 2b cysts had mild neurological phenotype. Patients with 2a and 2c cysts more frequently had normal cognition (83.3% and 62.5% of cases, respectively). Patients with type 1c cyst mostly had mild/moderate cognitive impairment. Severe neurologic deficits were associated with...Continue Reading

References

Jan 1, 1990·European Journal of Radiology·S E ByrdD G McLone
Oct 1, 1995·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·G LenaM Choux
Sep 1, 1996·Surgical Neurology·M Caldarelli, C Di Rocco
Apr 1, 1997·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·G PiluL Bovicelli
Feb 8, 2000·European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [et Al] = Zeitschrift Für Kinderchirurgie·C M BannisterD H Mowle
Sep 1, 2001·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·W BlaicherG Bernaschek
May 5, 2004·American Journal of Human Genetics·Ilse WielandPeter Wieacker
Mar 2, 2005·Brain & Development·Jean Aicardi
Sep 29, 2005·Acta Paediatrica·Piero PavoneMartino Ruggieri
Jun 9, 2006·Clinical Dysmorphology·Anne-Marie MurphySally Ann Lynch
Sep 15, 2006·Journal of Neurosurgery·Giuseppe CinalliGiuseppe Maggi
Oct 24, 2006·AJR. American Journal of Roentgenology·Steven W HettsA James Barkovich
Mar 22, 2007·Nature Reviews. Neuroscience·Lynn K PaulElliott H Sherr
Mar 1, 2008·Acta Paediatrica·A ChadieUNKNOWN Haute-Normandie Perinatal Network
Jul 25, 2009·Developmental Medicine and Child Neurology·Emilie M RiouMichael I Shevell
Mar 23, 2010·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Mustafa Onur UluPamir Erdinçler
Jun 12, 2012·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·Gary FruhmanRichard A Lewis
Oct 24, 2012·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Karen Y OhRoya Sohaey
Jan 9, 2013·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Elias RizkAaron A Cohen-Gadol
Jan 31, 2014·Brain : a Journal of Neurology·Timothy J EdwardsLinda J Richards
Aug 27, 2014·Pediatrics·John B MoeschlerUNKNOWN Committee on Genetics
Jun 14, 2015·Human Molecular Genetics·Christine LaclefSylvie Schneider-Maunoury
Dec 15, 2015·Developmental Medicine and Child Neurology·Aqeela H Al-HashimDaune MacGregor
May 20, 2016·Journal of Pediatric Neurosciences·Dipanker Singh MankotiaP Sarat Chandra
Sep 2, 2016·Pediatrics·Francesco D'AntonioFederico Prefumo
Nov 20, 2016·Annals of Neurology·Rahul S Desikan, A James Barkovich
Nov 2, 2017·Early Human Development·Lise Folliot-Le DoussalUNKNOWN Perinatal Network of Haute-Normandie
Jul 6, 2018·Ultraschall in der Medizin : Organ der Deutschen Gesellschaft für Ultraschall in der Medizin, [der] Österreichischen Gesellschaft für Ultraschall in der Medizin, [der] Schweizerischen Gesellschaft für Ultraschall in Medizin und Biologie·Andrea Dall'AstaChristoph C Lees
Nov 18, 2018·Human Molecular Genetics·Audrey PutouxBénédicte Durand

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Citations

Aug 12, 2020·Brain : a Journal of Neurology·Mariasavina SeverinoAndrea Rossi
Mar 14, 2019·Children·Aikaterini FitsioriMaria Isabel Vargas
Jul 21, 2020·Journal of Obstetric, Gynecologic, and Neonatal Nursing : JOGNN·Pieta ShakesJohn Hurley
Dec 6, 2020·Neurology·Silvia MasnadaUNKNOWN Aicardi Syndrome International Study Group

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