How do patients with tuberous sclerosis typically present?
1) Seizures (absent in 1/4 of individuals); 2) mental retardation (up to half of affected individuals have normal intelligence); 3) adenoma sebaceum (present in ~75% of patients). The full triad is only seen in ~30% of patients.
What is the cause of tuberous sclerosis?
Spontaneous mutations account for 50-86% of cases, with the remainder inherited as an autosomal dominant condition. In the majority of cases (80%) the mutation has been narrowed down to two tumour suppressor genes: TSC1 (chromosome 9q32-34) and TSC2 (chromosome 16p13.3).
Multiple calcified subependymal nodules are noted along the margins of the lateral ventricles.