{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,6,9]],"date-time":"2023-06-09T04:21:16Z","timestamp":1686284476831},"reference-count":0,"publisher":"Journal of Nepal Medical Association (JNMA)","issue":"262","license":[{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Nepal Med Assoc"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.31729\/jnma.8172","type":"journal-article","created":{"date-parts":[[2023,6,2]],"date-time":"2023-06-02T10:57:45Z","timestamp":1685703465000},"page":"562-565","source":"Crossref","is-referenced-by-count":0,"title":["Tuberous Sclerosis Complex in a 17-month-old: A Case Report"],"prefix":"10.31729","volume":"61","author":[{"given":"Sarjan","family":"K.C.","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anjana","family":"Bohaju","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunil Raja","family":"Manandhar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anup","family":"Shrestha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erika","family":"Aryal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pradeep","family":"Maharjan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"16919","published-online":{"date-parts":[[2023,6,1]]},"container-title":["Journal of Nepal Medical Association"],"original-title":[],"link":[{"URL":"https:\/\/jnma.com.np\/jnma\/index.php\/jnma\/article\/download\/8172\/4664","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/jnma.com.np\/jnma\/index.php\/jnma\/article\/download\/8172\/4664","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,6,8]],"date-time":"2023-06-08T10:54:40Z","timestamp":1686221680000},"score":1,"resource":{"primary":{"URL":"https:\/\/jnma.com.np\/jnma\/index.php\/jnma\/article\/view\/8172"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,1]]},"references-count":0,"journal-issue":{"issue":"262","published-online":{"date-parts":[[2023,6,1]]}},"URL":"https:\/\/doi.org\/10.31729\/jnma.8172","relation":{},"ISSN":["1815-672X","0028-2715"],"issn-type":[{"value":"1815-672X","type":"electronic"},{"value":"0028-2715","type":"print"}],"subject":[],"published":{"date-parts":[[2023,6,1]]}}}