Lilian Mann1, Daniel Ebrahimi-Fakhari1, Beate Heinrich2, Marina Flotats-Bastardas3, Ludwig Gortner4, Alexander von Gontard5, Justine Niemcyzk5, Martin Poryo6, Sascha Meyer7. 1. Medizinische Fakultät, Universität des Saarlandes Campus Homburg, 66421, Homburg, Deutschland. 2. ESPED, Düsseldorf, Deutschland. 3. Klinik für Allgemeine Pädiatrie und Neonatologie, TSC-Zentrum Saarland, Sektion Neuropädiatrie, Universitätsklinikum des Saarlandes, 66421, Homburg, Deutschland. 4. Klinik für Allgemeine Pädiatrie und Neonatologie, Universitätsklinikum des Saarlandes, 66421, Homburg, Deutschland. 5. Klinik für Kinder- und Jugendpsychiatrie, Psychosomatik und Psychotherapie, Universitätsklinikum des Saarlandes, 66421, Homburg, Deutschland. 6. Klinik für Pädiatrische Kardiologie, Universitätsklinikum des Saarlandes, 66421, Homburg, Deutschland. 7. Klinik für Allgemeine Pädiatrie und Neonatologie, TSC-Zentrum Saarland, Sektion Neuropädiatrie, Universitätsklinikum des Saarlandes, 66421, Homburg, Deutschland. sascha.meyer@uks.eu.
Abstract
BACKGROUND: Tuberous sclerosis complex (TSC) disease is a rare genetic, multi-organ disorder characterized by the occurrence of multiple hamartoma. METHODS: In cooperation with ESPED, Germany, a prospective, epidemiological study was performed to assess the incidence of newly diagnosed TSC disease in patients ≤18 years in Germany. Moreover, the following parameters were assessed: 1. Age distribution at initial diagnosis; 2. Percentage of patients with in utero diagnosis of TSC; 3. Detailed description of pathological clinical findings; 4. Results from genetic testing. RESULTS: In this one-year interim analysis, 84 electronic questionnaires were received, 17 of which did not contain complete sets of data and were not included in data analysis. Twenty-three of 67 questionnaires did not report TSC patients and 3 reports contained redundant data sets and were excluded. In total, 41 reports were included into data analysis (female: 23; male: 18); median age at first diagnosis was 6 months (range: 0-151 months). The three most common symptoms were: central nervous affection: 31/41 patients ((75.6 %); 29/31 with seizures); rhabdomyoma: in 20/41 (48.8 %); cutaneous affection: hypomelanotic maculae ("white spots"): 20/41 (48.8 %). The three following organ manifestations were seen most often in a comprehensive diagnostic work-up: rhabdomyoma: 23/41 ((56.1 %); cortical dysplasia: 22/41 (53.7 %); "white spots"): 20/41 (48.8 %). In 11/41 patients, cardiac rhabdomyoma were detected by ultrasonography prenatally. In 6 patients, a TSC-2 mutation was found while in 4 patients a TSC-1 mutation was noted; in 1 patient, genetic testing was negative. CONCLUSIONS: Based on our preliminary findings, the annual incidence rate for TSC disease is estimated at approximately 1:12,300 live births, but this is a very rough approximation.
BACKGROUND:Tuberous sclerosis complex (TSC) disease is a rare genetic, multi-organ disorder characterized by the occurrence of multiple hamartoma. METHODS: In cooperation with ESPED, Germany, a prospective, epidemiological study was performed to assess the incidence of newly diagnosed TSC disease in patients ≤18 years in Germany. Moreover, the following parameters were assessed: 1. Age distribution at initial diagnosis; 2. Percentage of patients with in utero diagnosis of TSC; 3. Detailed description of pathological clinical findings; 4. Results from genetic testing. RESULTS: In this one-year interim analysis, 84 electronic questionnaires were received, 17 of which did not contain complete sets of data and were not included in data analysis. Twenty-three of 67 questionnaires did not report TSCpatients and 3 reports contained redundant data sets and were excluded. In total, 41 reports were included into data analysis (female: 23; male: 18); median age at first diagnosis was 6 months (range: 0-151 months). The three most common symptoms were: central nervous affection: 31/41 patients ((75.6 %); 29/31 with seizures); rhabdomyoma: in 20/41 (48.8 %); cutaneous affection: hypomelanotic maculae ("white spots"): 20/41 (48.8 %). The three following organ manifestations were seen most often in a comprehensive diagnostic work-up: rhabdomyoma: 23/41 ((56.1 %); cortical dysplasia: 22/41 (53.7 %); "white spots"): 20/41 (48.8 %). In 11/41 patients, cardiac rhabdomyoma were detected by ultrasonography prenatally. In 6 patients, a TSC-2 mutation was found while in 4 patients a TSC-1 mutation was noted; in 1 patient, genetic testing was negative. CONCLUSIONS: Based on our preliminary findings, the annual incidence rate for TSC disease is estimated at approximately 1:12,300 live births, but this is a very rough approximation.
Authors: Petrus J de Vries; Vicky H Whittemore; Loren Leclezio; Anna W Byars; David Dunn; Kevin C Ess; Dena Hook; Bryan H King; Mustafa Sahin; Anna Jansen Journal: Pediatr Neurol Date: 2014-10-16 Impact factor: 3.372
Authors: Christopher Kingswood; Patrick Bolton; Pamela Crawford; Christopher Harland; Simon R Johnson; Julian R Sampson; Charles Shepherd; Jayne Spink; Dirk Demuth; Lara Lucchese; Paola Nasuti; Elizabeth Gray; Alun Pinnegar; Matthew Magestro Journal: Eur J Paediatr Neurol Date: 2015-12-11 Impact factor: 3.140
Authors: John C Kingswood; Paolo Bruzzi; Paolo Curatolo; Petrus J de Vries; Carla Fladrowski; Christoph Hertzberg; Anna C Jansen; Sergiusz Jozwiak; Rima Nabbout; Matthias Sauter; Renaud Touraine; Finbar O'Callaghan; Bernard Zonnenberg; Stefania Crippa; Silvia Comis; Guillaume Beaure d'Augères; Elena Belousova; Tom Carter; Vincent Cottin; Maria Dahlin; José Carlos Ferreira; Alfons Macaya; Mirjana Perkovic Benedik; Valentin Sander; Sotirios Youroukos; Ramon Castellana; Bulent Ulker; Martha Feucht Journal: Orphanet J Rare Dis Date: 2014-11-26 Impact factor: 4.123