Volume 4, Issue 3, September 2020, Page: 57-60
Tuberous Sclerosis Complex (TSC) in 8-Year-Old Girl: A Case Report
I Gusti Ngurah Made Suwarba, Department of Child Health, Medical Faculty of Udayana University, Sanglah Hospital, Denpasar, Indonesia
Received: Aug. 3, 2020;       Accepted: Aug. 17, 2020;       Published: Aug. 27, 2020
DOI: 10.11648/j.cnn.20200403.13      View  170      Downloads  56
Abstract
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.
Keywords
Tuberous Sclerosis Complex, Clinical Presentation, Management
To cite this article
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. doi: 10.11648/j.cnn.20200403.13
Copyright
Copyright © 2020 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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