Publication: Tuberous Sclerosis Complex in a 17-month-old: A Case Report
Date
2023
Journal Title
Journal ISSN
Volume Title
Publisher
Nepal Medical Association
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.
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
Keywords
Angiofibroma, Case reports, Seizures, Tuberous sclerosis, Tumor suppressor gene