title: Combined targeted treatment in early onset epilepsy associated with tuberous sclerosis.
abstract: Tuberous sclerosis is associated with epilepsy in up to 85% of cases, and in 2/3, the onset is within the first year of life. An early antiepileptic treatment is crucial to minimize the consequences of epilepsy on cognition and behavior. We present a case report of a child with tuberous sclerosis who presented with infantile spasms at the age of 6 months, immediately treated with vigabatrin. Because of the presence of a subependymal giant cell astrocytoma, he also received everolimus since 18 months of age. We might wonder if an earlier treatment could have produced a better outcome; in fact, despite a targeted combined treatment, he continues to suffer from sporadic focal motor seizures, and at the age of 40 months, he presents severe developmental delay with autism-like behavior.
authors.affiliation: Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University of Rome, Italy; Neurology Unit, Neuroscience and Neurorehabilitation Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Romina
authors.initials: R
authors.lastname: Moavero
authors.affiliation: Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University of Rome, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Marciano
authors.affiliation: Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University of Rome, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Graziola
authors.affiliation: Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University of Rome, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Curatolo
keywords: Early treatment; Epilepsy; Everolimus; Neurodevelopmental disorders; Tuberous sclerosis; Vigabatrin