PMID- 31333563 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20201001 IS - 1664-2295 (Print) IS - 1664-2295 (Electronic) IS - 1664-2295 (Linking) VI - 10 DP - 2019 TI - Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex. PG - 705 LID - 10.3389/fneur.2019.00705 [doi] LID - 705 AB - Background: This study evaluated the characteristics of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC) entered into the TuberOus SClerosis registry to increase disease Awareness (TOSCA). Methods: The study was conducted at 170 sites across 31 countries. Data from patients of any age with a documented clinical visit for TSC in the 12 months preceding enrollment or those newly diagnosed with TSC were entered. Results: SEGA were reported in 554 of 2,216 patients (25%). Median age at diagnosis of SEGA was 8 years (range, <1-51), with 18.1% diagnosed after age 18 years. SEGA growth occurred in 22.7% of patients aged 18 years. SEGA were symptomatic in 42.1% of patients. Symptoms included increased seizure frequency (15.8%), behavioural disturbance (11.9%), and regression/loss of cognitive skills (9.9%), in addition to those typically associated with increased intracranial pressure. SEGA were significantly more frequent in patients with TSC2 compared to TSC1 variants (33.7 vs. 13.2 %, p < 0.0001). Main treatment modalities included surgery (59.6%) and mammalian target of rapamycin (mTOR) inhibitors (49%). Conclusions: Although SEGA diagnosis and growth typically occurs during childhood, SEGA can occur and grow in both infants and adults. FAU - Jansen, Anna C AU - Jansen AC AD - Pediatric Neurology Unit, Department of Pediatrics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium. FAU - Belousova, Elena AU - Belousova E AD - Research and Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia. FAU - Benedik, Mirjana P AU - Benedik MP AD - Child Neurology Department, SPS Pediatricna Klinika, Ljubljana, Slovenia. FAU - Carter, Tom AU - Carter T AD - Tuberous Sclerosis Association, Nottingham, United Kingdom. FAU - Cottin, Vincent AU - Cottin V AD - Hopital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France. FAU - Curatolo, Paolo AU - Curatolo P AD - Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University Hospital, Rome, Italy. FAU - Dahlin, Maria AU - Dahlin M AD - Neuropediatric Department, Astrid Lindgren Childrens Hospital, Stockholm, Sweden. FAU - D'Amato, Lisa AU - D'Amato L AD - Novartis Farma S.p.A., Origgio, Italy. FAU - d'Augeres, Guillaume Beaure AU - d'Augeres GB AD - Association Sclerose Tubereuse de Bourneville, Gradignan, France. FAU - de Vries, Petrus J AU - de Vries PJ AD - Division of Child and Adolescent Psychiatry, University of Cape Town, Cape Town, South Africa. FAU - Ferreira, Jose C AU - Ferreira JC AD - Neurology Department, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal. FAU - Feucht, Martha AU - Feucht M AD - Medical University of Vienna, Universitatsklinik fur Kinder-und Jugendheilkunde, Vienna, Austria. FAU - Fladrowski, Carla AU - Fladrowski C AD - Associazione Sclerosi Tuberosa ONLUS, Milan, Italy. AD - European Tuberous Sclerosis Complex Association, In den Birken, Dattein, Germany. FAU - Hertzberg, Christoph AU - Hertzberg C AD - Zentrum fur Neuropadiatrie und Sozialpadiatrie, Vivantes-Klinikum Neukolln, Berlin, Germany. FAU - Jozwiak, Sergiusz AU - Jozwiak S AD - Department of Child Neurology, Warsaw Medical University, Warsaw, Poland. AD - Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland. FAU - Lawson, John A AU - Lawson JA AD - The Tuberous Sclerosis Multidisciplinary Management Clinic, Sydney Children's Hospital, Randwick, NSW, Australia. FAU - Macaya, Alfons AU - Macaya A AD - Pediatric Neurology Section, Hospital Universitari Vall d'Hebron, Barcelona, Spain. FAU - Marques, Ruben AU - Marques R AD - Novartis Farma S.p.A., Origgio, Italy. AD - Institute of Biomedicine, University of Leon, Leon, Spain. FAU - Nabbout, Rima AU - Nabbout R AD - Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris Descartes University, Paris, France. FAU - O'Callaghan, Finbar AU - O'Callaghan F AD - Institute of Child Health, University College London, London, United Kingdom. FAU - Qin, Jiong AU - Qin J AD - Department of Pediatrics, Peking University People's Hospital, Beijing, China. FAU - Sander, Valentin AU - Sander V AD - Neurology and Rehabilitation, Tallinn Children Hospital, Tallinn, Estonia. FAU - Sauter, Matthias AU - Sauter M AD - Klinikum Kempten, Klinikverbund Kempten-Oberallgau gGmbH, Kempten, Germany. FAU - Shah, Seema AU - Shah S AD - Novartis Healthcare Pvt. Ltd., Hyderabad, India. FAU - Takahashi, Yukitoshi AU - Takahashi Y AD - National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, NHO, Shizuoka, Japan. FAU - Touraine, Renaud AU - Touraine R AD - Department of Genetics, CHU-Hopital Nord, Saint Etienne, France. FAU - Youroukos, Sotiris AU - Youroukos S AD - First Department of Paediatrics, St. Sophia Children's Hospital, Athens University, Athens, Greece. FAU - Zonnenberg, Bernard AU - Zonnenberg B AD - Department of Internal Medicine, University Medical Center, Utrecht, Netherlands. FAU - Kingswood, John C AU - Kingswood JC AD - Cardiology Clinical Academic Group, Molecular and Clinical Sciences Research Centre, St. Georges University of London, London, United Kingdom. LA - eng PT - Journal Article DEP - 20190703 PL - Switzerland TA - Front Neurol JT - Frontiers in neurology JID - 101546899 PMC - PMC6616060 OTO - NOTNLM OT - SEGA OT - TOSCA OT - mTOR OT - registry OT - tuberous sclerosis complex EDAT- 2019/07/25 06:00 MHDA- 2019/07/25 06:01 PMCR- 2019/07/03 CRDT- 2019/07/24 06:00 PHST- 2019/03/22 00:00 [received] PHST- 2019/06/14 00:00 [accepted] PHST- 2019/07/24 06:00 [entrez] PHST- 2019/07/25 06:00 [pubmed] PHST- 2019/07/25 06:01 [medline] PHST- 2019/07/03 00:00 [pmc-release] AID - 10.3389/fneur.2019.00705 [doi] PST - epublish SO - Front Neurol. 2019 Jul 3;10:705. doi: 10.3389/fneur.2019.00705. eCollection 2019.