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.
| Published in | Clinical Neurology and Neuroscience (Volume 4, Issue 3) |
| DOI | 10.11648/j.cnn.20200403.13 |
| Page(s) | 57-60 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
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Copyright © The Author(s), 2024. Published by Science Publishing Group |
Tuberous Sclerosis Complex, Clinical Presentation, Management
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APA Style
I Gusti Ngurah Made Suwarba. (2020). Tuberous Sclerosis Complex (TSC) in 8-Year-Old Girl: A Case Report. Clinical Neurology and Neuroscience, 4(3), 57-60. https://doi.org/10.11648/j.cnn.20200403.13
ACS Style
I Gusti Ngurah Made Suwarba. Tuberous Sclerosis Complex (TSC) in 8-Year-Old Girl: A Case Report. Clin. Neurol. Neurosci. 2020, 4(3), 57-60. doi: 10.11648/j.cnn.20200403.13
AMA Style
I Gusti Ngurah Made Suwarba. Tuberous Sclerosis Complex (TSC) in 8-Year-Old Girl: A Case Report. Clin Neurol Neurosci. 2020;4(3):57-60. doi: 10.11648/j.cnn.20200403.13
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Download@article{10.11648/j.cnn.20200403.13,
author = {I Gusti Ngurah Made Suwarba},
title = {Tuberous Sclerosis Complex (TSC) in 8-Year-Old Girl: A Case Report},
journal = {Clinical Neurology and Neuroscience},
volume = {4},
number = {3},
pages = {57-60},
doi = {10.11648/j.cnn.20200403.13},
url = {https://doi.org/10.11648/j.cnn.20200403.13},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.cnn.20200403.13},
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.},
year = {2020}
}
TY - JOUR T1 - Tuberous Sclerosis Complex (TSC) in 8-Year-Old Girl: A Case Report AU - I Gusti Ngurah Made Suwarba Y1 - 2020/08/27 PY - 2020 N1 - https://doi.org/10.11648/j.cnn.20200403.13 DO - 10.11648/j.cnn.20200403.13 T2 - Clinical Neurology and Neuroscience JF - Clinical Neurology and Neuroscience JO - Clinical Neurology and Neuroscience SP - 57 EP - 60 PB - Science Publishing Group SN - 2578-8930 UR - https://doi.org/10.11648/j.cnn.20200403.13 AB - 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. VL - 4 IS - 3 ER -
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