Roland R Mettin1, Andreas Merkenschlager1, Matthias K Bernhard1, Heidrun Elix2, Wolfgang Hirsch3, Wieland Kiess1, Steffen Syrbe4. 1. Department of Women and Child Health, Hospital for Children and Adolescents, University of Leipzig, Germany. 2. Clinic for Paediatrics and Adolescent Medicine, Klinikum Chemnitz gGmbH, Germany. 3. Department of Imaging and Radiotherapy, Section Paediatric Radiology, University of Leipzig, Germany. 4. Department of Women and Child Health, Hospital for Children and Adolescents, University of Leipzig, Germany. Electronic address: steffen.syrbe@medizin.uni-leipzig.de.
Abstract
UNLABELLED: TSC is a multisystem genetic disorder predisposing to multiple organ manifestations and developmental problems. Clinical follow-up of patients remains a challenge for the caring paediatrician. METHODS: We performed a retrospective analysis of clinical manifestations, diagnostic and therapeutic data in 20 children with the diagnosis of tuberous sclerosis complex (TSC) to answer the following questions: are the clinical guidelines and imaging strategies appropriate to discover complications, are there significant early predictors of long-term prognosis, what is the age range for signs and symptoms to occur. RESULTS: Cardiac rhabdomyoma were present in 18 children and occurred as earliest manifestation. 8 of these exhibited associated arrhythmia or congenital cardiac anomalies. Seizures combined with cortical tubers and subependymal nodules occurred in 18 patients and were most likely to start in infancy, which was associated with later cognitive impairment. Cutaneous manifestations (15 children) occurred in late childhood and school age, whilst renal angiomyolipomas (11) developed in puberty. DISCUSSION: The clinical course and imaging strategies are compared with data from previous studies. A review of TSC in regard to the multiple manifestations is provided.
UNLABELLED: TSC is a multisystem genetic disorder predisposing to multiple organ manifestations and developmental problems. Clinical follow-up of patients remains a challenge for the caring paediatrician. METHODS: We performed a retrospective analysis of clinical manifestations, diagnostic and therapeutic data in 20 children with the diagnosis of tuberous sclerosis complex (TSC) to answer the following questions: are the clinical guidelines and imaging strategies appropriate to discover complications, are there significant early predictors of long-term prognosis, what is the age range for signs and symptoms to occur. RESULTS:Cardiac rhabdomyoma were present in 18 children and occurred as earliest manifestation. 8 of these exhibited associated arrhythmia or congenital cardiac anomalies. Seizures combined with cortical tubers and subependymal nodules occurred in 18 patients and were most likely to start in infancy, which was associated with later cognitive impairment. Cutaneous manifestations (15 children) occurred in late childhood and school age, whilst renal angiomyolipomas (11) developed in puberty. DISCUSSION: The clinical course and imaging strategies are compared with data from previous studies. A review of TSC in regard to the multiple manifestations is provided.
Authors: Shafali Spurling Jeste; Joyce Y Wu; Damla Senturk; Kandice Varcin; Jordan Ko; Brigid McCarthy; Christina Shimizu; Kira Dies; Vanessa Vogel-Farley; Mustafa Sahin; Charles A Nelson Journal: Neurology Date: 2014-06-11 Impact factor: 9.910
Authors: Afshin Saffari; Ines Brösse; Adelheid Wiemer-Kruel; Bernd Wilken; Paula Kreuzaler; Andreas Hahn; Matthias K Bernhard; Cornelis M van Tilburg; Georg F Hoffmann; Matthias Gorenflo; Sven Hethey; Olaf Kaiser; Stefan Kölker; Robert Wagner; Olaf Witt; Andreas Merkenschlager; Andreas Möckel; Timo Roser; Jan-Ulrich Schlump; Antje Serfling; Juliane Spiegler; Till Milde; Andreas Ziegler; Steffen Syrbe Journal: Orphanet J Rare Dis Date: 2019-05-03 Impact factor: 4.123