[P2-158] Tuberous Sclerosis Complex in Saudi Arabia
Tuberous sclerosis complex (TSC) is autosomal dominant neurocutaneous disorder, with heterogeneous manifestations. The nervous system is the main system involved manifesting as epilepsy and abnormal development. We performed a retrospective review of a cohort of 102 patients diagnosed with TSC. We will describe genetics, clinical and neurological manifestations and outcome on last visit. A preliminary analysis of some data on 65 patients showed the following: 1. Seizures occurred in (50, 82.0%), Skin Manifestations in (32, 52.5%), Developmental Delay in (26, 40%), Delayed Language (8, 13.1%), Behavioral Problems in (16, 25%). 2. 8 patients, 12%, had TSC1 mutation and23, 35% had TSC2 mutation. Data was missing or genetic testing was not done on 34, 52%.. 3. Infantile spasms was found in 9, 14%, majority were with TSC 2 90% (8/9). 4. Among children with infantile spasms (9), 55% (5/9) had intractable epilepsy, all with abnormal routine EEG recording. 5. 4/9 children with infantile spasms had controlled epilepsy, two of them had normal EEG recording.
This was an approved research project at our institute (ORA#2151057). This is preliminary data and the full data on the entire cohort will be presented in the conference.
This was an approved research project at our institute (ORA#2151057). This is preliminary data and the full data on the entire cohort will be presented in the conference.