Recommendations for the radiological diagnosis and follow-up of neuropathological abnormalities associated with tuberous sclerosis complex

• Published in: Journal of neuro-oncology Vol. 118; no. 2; pp. 205 - 223
• Main Authors: Rovira, Àlex, Ruiz-Falcó, María Luz, García-Esparza, Elena, López-Laso, Eduardo, Macaya, Alfons, Málaga, Ignacio, Vázquez, Élida, Vicente, Josefina
• Format: Journal Article Conference Proceeding
• Language: English
• Published: Boston Springer US 01.06.2014; Springer Nature B.V
• Subjects: Astrocytoma - diagnosis; Astrocytoma - diagnostic imaging; Astrocytoma - therapy; Brain - diagnostic imaging; Brain - pathology; Brain Diseases - diagnostic imaging; Brain Diseases - etiology; Brain Neoplasms - diagnosis; Brain Neoplasms - diagnostic imaging; Brain Neoplasms - therapy; Diagnosis, Differential; Humans; Medicine; Medicine & Public Health; Neuroimaging - methods; Neurology; Oncology; Radiography; Topic Review; Tuberous Sclerosis - complications; Tuberous Sclerosis - diagnostic imaging; Ultrasonography, Prenatal; Subependymal giant cell astrocytomas; Mammalian target of rapamycin inhibitors; Magnetic resonance imaging; Tuberous sclerosis complex; Subependymal nodules
• ISSN: 0167-594X; 1573-7373
• DOI: 10.1007/s11060-014-1429-y

Tuberous sclerosis complex (TSC) is a genetic condition with multisystem involvement, characterized by the development of tumors and other abnormalities in organs such as the brain, retina, skin, heart, kidneys, and lungs. Most patients have neuropathological abnormalities such as cortical tubers, white matter radial migration lines, subependymal nodules, and subependymal giant cell astrocytomas (SEGAs). These lesions are associated with different neurological manifestations that are frequently associated with TSC. These manifestations consist of epilepsy, intellectual disability, and neurobehavioral and psychiatric problems, including autism spectrum disorder. Hydrocephalus may also develop in patients with SEGAs due to ventricular obstruction, when this usually slow-growing tumor reaches sufficient size. Surgery has been the classical approach to treat SEGAs, although this treatment is associated with substantial morbidity and does not completely prevent tumor recurrence. Recently, the mammalian target of rapamycin (mTOR) inhibitor, everolimus, has been approved by the Food and Drug Administration and the European Medicines Agency for the treatment of patients with SEGAs associated with TSC. However, the treatment of SEGAs with these agents requires the development of guidelines that establish a differential diagnosis between SENs and SEGAs, in which neuroradiological examinations play an essential role. With the aim of improving the neuroradiological diagnosis and follow-up of the neuropathological abnormalities associated with TSC, a group of experts in this field has reviewed different aspects related to these issues and put together, a series of statements and recommendations intended to provide guidance to specialists involved in the management of TSC.