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JNMA J Nepal Med Assoc · Jun 2023
Case ReportsTuberous Sclerosis Complex in a 17-month-old: A Case Report.
- Sarjan K C, Anjana Bohaju, Sunil Raja Manandhar, Anup Shrestha, Erika Aryal, and Pradeep Maharjan.
- Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal.
- JNMA J Nepal Med Assoc. 2023 Jun 1; 61 (262): 562565562-565.
UnlabelledTuberous sclerosis complex is a rare autosomal dominant genetic disorder that affects multiple organ systems, primarily affecting the central nervous system. It develops with a pathogenic mutation in tumour suppressor genes i.e. Tuberous Sclerosis Complex 1 or Tuberous Sclerosis Complex 2 which codes for protein hamartin and tuberin leading to unopposed hyperactivation of the mammalian target of the rapamycin signalling pathway. It presents with a triad of facial angiofibroma, intellectual disability, and epilepsy. We present a case of a 17-month female toddler with abnormal body movement with loss of consciousness and later developing into generalised jerky movements. On magnetic resonance imaging, a diagnosis of tuberous sclerosis was made. The patient underwent symptomatic management with anti-epileptic. As seizures in these cases are subtle, they remain undiagnosed for a long time leading to delays in management and developing refractory seizures.Keywordsangiofibroma; case reports; seizures; tuberous sclerosis; tumor suppressor gene.
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