Clinically Relevant Imaging in Tuberous Sclerosis

Abstract

Tuberous sclerosis (TS), also known as Bourneville disease or Bourneville–Pringle disease, is an autosomal dominant genetic disorder classically characterized by the presence of hamartomatous growths in multiple organs. TS and tuberous sclerosis complex (TSC) are different terms for the same genetic condition. Both terms describe clinical changes due to mutations involving either of the two genes named TSC1 and TSC2, which regulate cell growth. The diagnosis of TSC is established using diagnostic criteria based on clinical and imaging findings. Routine screening and surveillance of patients with TSC is needed to determine the presence and extent of organ involvement, especially the brain, kidneys, and lungs, and identify the development of associated complications. As the treatment is organ specific, imaging plays a crucial role in the management of patients with TSC.

Diagnosis of tuberous sclerosis complex

“…1). Туберы обнаруживаются у 95-100% паци-ентов, в 50% случаев происходит их кальцификация, в 10% случаев туберы накапливают контраст [7]. Часто именно туберы являются причиной эпилепсии.…”

“…Часто именно туберы являются причиной эпилепсии. Субэпен-димальные узлы встречаются у 80% пациентов [7], по мор-фологическому строению они напоминают туберы и име-ют характерную нейрорадиологическую картину (рис. 2).…”

“…4), и кисты у зад-них рогов боковых желудочков. Могут встречаться и дру-гие аномалии строения коры (фокальные дисплазии, шиз энцефалия, гетеротопии, частичная агенезия мозоли-стого тела) [7].…”

TS or not TS?

“…Cortical tubers are disorganised areas of cortex and are best identified using MRI 5. Only 3–4% of tubers show contrast enhancement 6.…”

“…SENs are more likely to calcify at an early age and are therefore best detected by CT or susceptibility-weighted imaging. SEGAs are rarer, are heterogeneous on MRI, often calcify and strongly enhance following contrast 5. Therefore both MR and CT images can help in patients with suspected TS.…”