Abstracts

Rationale: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic neurocutaneous disorder in which nervous system is the most commonly and severely affected and patients often suffer from epilepsy, mental retardation, and autism spectrum disorder [1]. Previous studies reported that epilepsy is the most common neurologic symptom in TSC patients, seen in 80–90% of affected individuals, often refractory to treatment and a significant source of morbidity and mortality [2]. Such data is scarce in Saudi Arabia, so we conducted this study to review the clinical presentation of TSC, its association with epilepsy and the natural history of epilepsy in this genetic disease among Saudi children with TSC. Methods: A retrospective chart review study of all patients aged ≤ 14 years old, with confirmed diagnosis of TSC with or without epilepsy at KFSH&RC. Predesigned questionnaire covers the demographic, clinical spectrum, imaging, genetic study and type of epilepsy data was used. The genetic, clinical and neurological manifestations and outcomes were described based on patients' last visit. Results: A descriptive preliminary analysis of some data on 88 patients (56 male and 32 female) was done. The results showed that seizure was the highest prevalent (82.2%) manifestation. The genetic study for TSC diagnosis was done for 67patients, 24 (35.8%) of them were genetically confirmed, for whom 3 patients had TSC1mutation, 20 had TSC2 mutation, and 1 had both. Tonic clonic and myoclonic were the reported type of seizures in TSC1 patients with a prevalence of 66.6% for each, while for TSC2; tonic clonic was the most prevalent type at 46.6% followed by myoclonic 33.3%, stiffness 26.6%, infantile spasm 20%, and clonic jerks 6.6%. Generally, majority (62.7%) of the patients had seizures affected the whole body, age of onset was less than one year in 61.0%, seizure frequency was daily in more than half of them (58.3%), without skin color change (50.8%), occurring more during the day time (57.9%), seizures was mostly tonic and clonic (48.5%) and Infantile Spasm was reported in 20.6% with no atonic or gelastic seizures reported. The most commonly reported seizure triggers were: not enough sleep, irregular eating pattern, and emotional stress. For the number and type of antiepileptic drugs used, the highest percentage (37.5%) of the patients was receiving two antiepileptic drugs and Tegretol was the most commonly (42.3%) used one. The seizure was controlled only in 54.5% of the patients. Seizure freedom data was available for 20 patients only and majority (60%) of them achieved it for duration of more than 2 years. Conclusions: Most TSC patients develop epilepsy with multiple seizure types. Many patients did not achieve seizure freedom however; most of them were controlled on 2-3 antiepileptic medications. Funding: None