Publication: Tuberous Sclerosis Complex in a 17-month-old: A Case Report
| creativeworkseries.issn | JNMA Print ISSN: 0028-2715; Online ISSN: 1815-672X | |
| dc.contributor.author | K.C., Sarjan | |
| dc.contributor.author | Bohaju, Anjana | |
| dc.contributor.author | Manandhar, Sunil Raja | |
| dc.contributor.author | Shrestha, Anup | |
| dc.contributor.author | Aryal, Erika | |
| dc.contributor.author | Maharjan, Pradeep | |
| dc.date.accessioned | 2025-09-24T05:18:23Z | |
| dc.date.available | 2025-09-24T05:18:23Z | |
| dc.date.issued | 2023 | |
| dc.description | Sarjan K.C. Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal Anjana Bohaju Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal Sunil Raja Manandhar Department of Pediatrics, Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal Anup Shrestha Department of Pediatrics, Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal Erika Aryal Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal Pradeep Maharjan Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal | |
| dc.description.abstract | Abstract Tuberous 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. | |
| dc.identifier | https://doi.org/10.31729/jnma.8172 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14572/2310 | |
| dc.language.iso | en_US | |
| dc.publisher | Nepal Medical Association | |
| dc.subject | Angiofibroma | |
| dc.subject | Case reports | |
| dc.subject | Seizures | |
| dc.subject | Tuberous sclerosis | |
| dc.subject | Tumor suppressor gene | |
| dc.title | Tuberous Sclerosis Complex in a 17-month-old: A Case Report | |
| dc.type | Article | |
| dspace.entity.type | Publication | |
| local.article.type | Case Report | |
| oaire.citation.endPage | 565 | |
| oaire.citation.startPage | 562 | |
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