Phenotypic variability in a family with Tuberous Sclerosis Complex 2

The Tuberous Sclerosis Complex type 2 (TSC2) is a multisystem autosomal dominant disease due to mutations in TSC2 gene. Neurologically, it is characterized by severe epilepsy and mental retardation, but wide phenotypic variability has been reported. We describe a family of Southern Italy (4 members) with TSC2 characterized by severe choreoathetosis as unique sign of the disease (proband), rare epileptic seizures (sister) or no clinical symptoms (2 subjetcs). All subjects had multiple intracranial calcification with subependymal nodules and/or cortical tubers, and a nonsense TSC2 mutation (E482X). Conclusion: our study demonstrate a wide phenotypic variability and emphasizes hyperkinesias as unique clinical manifestation in TSC2.