Intractable seizures as the initial presentation of two neonates with genetically diagnosed tuberous sclerosis complex.
- Author:
Grael M. Dumallay
1
,
2
;
Mel Michel G. Villaluz
2
,
3
Author Information
- Publication Type:Journal Article
- From: Philippine Journal of Neurology 2023;26(1):61-65
- CountryPhilippines
- Language:English
- Abstract: Tuberous Sclerosis Complex (TSC) is a genetic disorder that presents in a myriad of clinical manifestations affecting the different organ systems. These manifestations emerge at different times in a patient’s lifespan and diagnosis early in the disease can be challenging. Majority of patients with TSC develop epilepsy and is often one of the most difficult to manage. We report two neonates with drug resistant epilepsy with seizure onset on the first day of life and were subsequently diagnosed with Tuberous Sclerosis. These two neonates exemplified the diverse phenotypic expression of TSC.
- Full text:26(1)_5.pdf