Clinical Neurology and Neuroscience
Volume 4, Issue 3, September 2020, Pages: 57-60
Received: Aug. 3, 2020;
Accepted: Aug. 17, 2020;
Published: Aug. 27, 2020
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I Gusti Ngurah Made Suwarba, Department of Child Health, Medical Faculty of Udayana University, Sanglah Hospital, Denpasar, Indonesia
Tuberous Sclerosis Complex (TSC) are clinically associated with the development of non-malignant tumors throughout the body. The clinical presentation of TSC is highly variable among individual in which make the diagnosis is challenging too. Based on the 2012 International TSC Consensus Group guidelines, diagnosis is made either by genetic diagnosis or clinical diagnosis. Managing Tuberous Sclerosis Complex (TSC) is as challenging as diagnosis. Multiple organs are affected, it requires multidisciplinary approach to deal with. An 8-year-old girl consulted from Dermato-venerology department with chronic facial angiofibroma with suspicion of TSC. The symptoms at the time of examination were face lump and decreased ability to concentrate at class subjectively reported by parents. Investigation were carried and revealed that patient had a history of seizure during infancy, had finished anti epilepsy medication and has been remaining symptoms free up to this case were investigated. Diagnosis were made by matching investigation result to clinical diagnosis of the 2012 International TSC Consensus Group guidelines. Several supporting examinations had been done, with result: subependymal nodule from head CT Scan; Rhabdomyoma from echocardiograph; multiple mass on kidney from USG; and EEG abnormality. Management were emphasized on treating the rose symptoms and prioritization of the most potential result that might possess significant burden. TSC possess potential challenge starts from case presentation to management. Thorough investigation and multidisciplinary approached are required to successfully manage the case and eventually reduce the burden of the disease.
I Gusti Ngurah Made Suwarba,
Tuberous Sclerosis Complex (TSC) in 8-Year-Old Girl: A Case Report, Clinical Neurology and Neuroscience.
Vol. 4, No. 3,
2020, pp. 57-60.
Cardis, M. A. and DeKlotz, C. M. C (2017). Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role. Arch Dis Child. 2102 (9), 858–863.
Kingswood, C., Bolton, P., Crawford, P., Harland, C., Johnson, S. R., Sampson, J. R., et al. (2016). The clinical profile of tuberous sclerosis complex (TSC) in the United Kingdom: A restrospective cohort study in the Clinical Practice Research Datalink (CPRD). Eur J of Paed Neur. 20 (2), 296-308.
Ebrahimi-Fakhari, D., et al. (2018). Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study. Orphanet J Rare Dis. 13 (1), 117.
Günther, T., Schreiber, C., Noebauer, C., Eicken, A., Lange, R. (2018). Treatment strategies for pediatric patients with primary cardiac and pericardial tumors: a 30-year review. Pediatr Cardiol. 29 (6), 1071-1076.
Sciacca, P., Giacchi, V., Mattia, C., et al. (2014). Rhabdomyomas and tuberous sclerosis complex: our experience in 33 cases. BMC Cardiovasc Disord. 14, 66.
Northrup, H., Krueger, D. A. (2013). International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 49 (4), 243-254.
Henske, E. P., Jóźwiak, S., Kingswood, J. C., Sampson, J. R., Thiele, E. A. (2016). Tuberous sclerosis complex. Nat Rev Dis Primers. 2, 16035.
Zöllner, J. P., Franz, D. N., Hertzberg, C., Nabbout, R., Rosenow, F., Sauter, M., et al. (2020). A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC). Orphanet J Rare Dis. 15, 23.
Nabbout, R., Belousova, E., Benedik, M. P., et al. (2018). Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study. Epilepsia Open. 4 (1), 73-84.
Curatolo, P., Moavero, R., de Vrie, s P. J. (2015). Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol. 14 (7), 733-745.
Saxena, A. and Sampson, J. R. (2015). Epilepsy in Tuberous Sclerosis: Phenotypes, Mechanisms, and Treatments. Semin Neurol. 35 (3), 269-276.
Overwater, I. E., Bindels-de Heus, K., Rietman, A. B., et al. (2015). Epilepsy in children with tuberous sclerosis complex: Chance of remission and response to antiepileptic drugs. Epilepsia. 56 (8), 1239-1245.
Krueger, D. A., Wilfong, A. A., Holland-Bouley, K., et al. (2013). Everolimus treatment of refractory epilepsy in tuberous sclerosis complex. Ann Neurol. 74 (5), 679-687.
Roach, S. E. Applying the lessons of tuberous sclerosis: the 2015 Hower Award Lecture. (2016). Pediatr Neurol. 63, 6-22.
Leclezio, L., Jansen, A., Whittermore, V. H., Vries, P. J. Pilot Validation of the Tuberous Sclerosis-Associated Neuropsychiatric Disorders (TAND) Check. (2015). Pediatr Neurol. 52, 16-24.
Thomas, N. and Darling, A. J. Tuberous sclerosis complex. In: Goldsmith L, A., Katz, S. I., Gilchrest, Paller, A. S., Leffell, D. J., Woff, K., editors. Fitzpatrick’s Dermatology in General Medicine (8th ed.). New York: McGraw Hill, 2012; p. 1671-1679.