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.
Highlights
Tuberous Sclerosis Complex (TSC) are clinically associated with the development of non-malignant tumors throughout the body
With limited diagnostic and medication resource available, we present here a case report of TSC in girl age 8 years old with emphasize of management priority among problems existed and suited to our available resources
Physiological consultation was made, and patient was considered having slight decreased learning ability. From this case report was found the commonest symptoms of a TSC, namely skin manifestations in the form of facial angiofibroma and hypomelanotic lesions; Central Nervous System (CNS) manifestations in the form of abnormality of EEG waves, i.e.: epileptiform waves and subependymal nodules; and cardiac rhabdomyoma
Summary
The diagnostic criteria follow the international consensus of the 2012 International Tuberous Sclerosis Complex Consensus Conference which states that diagnostic criteria include genetic diagnosis and clinical diagnosis [1]. Criteria for clinical diagnosis are established from fulfilling 2 major criteria or 1 major and 2 minor criteria In this patient multiple angiofibroma were found, multiple hypomelanotic macular lesions; and subependymal nodules. Where there have been several reports from previous studies regarding a positive correlation between intellectual ability and seizure control at TSC. One study epilepsy related with TSC were related with relapse of the disease after 24 months remission in half of respondent [12]. In those with confirmed epilepsy, the management is best when done by multidisciplinary approach: anti-epileptic drugs; vagal nerve stimulation as adjunctive; and ketogenic as a combined treatment [11]. Behavioral and neurological symptoms are closely followed in order to measure quality of life by checklist such as TAND or regular phycological session
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