[ESPED-Survey: TSC-disease in children and adolescents: preliminary results from a German epidemiological survey].
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.
Medizinische Fakultät, Universität des Saarlandes Campus Homburg, 66421, Homburg, Deutschland.
Lilian
L
Mann
Medizinische Fakultät, Universität des Saarlandes Campus Homburg, 66421, Homburg, Deutschland.
Daniel
D
Ebrahimi-Fakhari
ESPED, Düsseldorf, Deutschland.
Beate
B
Heinrich
Klinik für Allgemeine Pädiatrie und Neonatologie, TSC-Zentrum Saarland, Sektion Neuropädiatrie, Universitätsklinikum des Saarlandes, 66421, Homburg, Deutschland.
Marina
M
Flotats-Bastardas
Klinik für Allgemeine Pädiatrie und Neonatologie, Universitätsklinikum des Saarlandes, 66421, Homburg, Deutschland.
Ludwig
L
Gortner
Klinik für Kinder- und Jugendpsychiatrie, Psychosomatik und Psychotherapie, Universitätsklinikum des Saarlandes, 66421, Homburg, Deutschland.
Alexander
A
von Gontard
Klinik für Kinder- und Jugendpsychiatrie, Psychosomatik und Psychotherapie, Universitätsklinikum des Saarlandes, 66421, Homburg, Deutschland.
Justine
J
Niemcyzk
Klinik für Pädiatrische Kardiologie, Universitätsklinikum des Saarlandes, 66421, Homburg, Deutschland.
Martin
M
Poryo
Klinik für Allgemeine Pädiatrie und Neonatologie, TSC-Zentrum Saarland, Sektion Neuropädiatrie, Universitätsklinikum des Saarlandes, 66421, Homburg, Deutschland. sascha.meyer@uks.eu.
Sascha
S
Meyer
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D004252:DNA Mutational Analysis; D005260:Female; D005858:Germany / Q000453:epidemiology; D006338:Heart Neoplasms / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D054220:Malformations of Cortical Development / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D015995:Prevalence; D012207:Rhabdomyoma / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D011795:Surveys and Questionnaires; D014402:Tuberous Sclerosis / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D000077005:Tuberous Sclerosis Complex 2 Protein / Q000235:genetics; D016216:Ultrasonography, Prenatal
C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein
Adolescents; Children; ESPED; Epidemiology; Incidence; Tuberous sclerosis complex disease