PMID- 24771286 OWN - NLM STAT- MEDLINE DCOM- 20150204 LR - 20211021 IS - 1573-7373 (Electronic) IS - 0167-594X (Linking) VI - 118 IP - 2 DP - 2014 Jun TI - Recommendations for the radiological diagnosis and follow-up of neuropathological abnormalities associated with tuberous sclerosis complex. PG - 205-223 LID - 10.1007/s11060-014-1429-y [doi] AB - 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. FAU - Rovira, Alex AU - Rovira A AD - Neuroradiology Unit (IDI), Hospital Universitari Vall d'Hebron, Passeig de la Vall d'Hebron, 119-129, 08035, Barcelona, Spain. FAU - Ruiz-Falco, Maria Luz AU - Ruiz-Falco ML AD - Neuropediatrics Department, Hospital Infantil Universitario Nino Jesus, Avenida de Menendez Pelayo, 65, 28009, Madrid, Spain. mariluz@ruiz-falco.es. FAU - Garcia-Esparza, Elena AU - Garcia-Esparza E AD - Neuroradiology Department, Hospital Infantil Universitario Nino Jesus, Avenida de Menendez Pelayo, 65, 28009, Madrid, Spain. FAU - Lopez-Laso, Eduardo AU - Lopez-Laso E AD - Neuropediatrics Department, Hospital Universitario Reina Sofia, Avenida Menendez Pidal, s/n, 14004, Cordoba, Spain. FAU - Macaya, Alfons AU - Macaya A AD - Neuropediatrics Department, Hospital Universitari Vall D'Hebron, Passeig de la Vall d'Hebron, 119-129, 08035, Barcelona, Spain. FAU - Malaga, Ignacio AU - Malaga I AD - Child Neurology Unit, Pediatrics Department, Hospital Universitario Central de Asturias, Calle de Celestino Villamil, s/n, 33006, Oviedo, Spain. FAU - Vazquez, Elida AU - Vazquez E AD - Pediatric Radiology Department, Hospital Universitari Vall d'Hebron, Passeig de la Vall d'Hebron, 119-129, 08035, Barcelona, Spain. FAU - Vicente, Josefina AU - Vicente J AD - Neuroradiology Department, Hospital Universitario Reina Sofia, Avenida Menendez Pidal, s/n, 14004, Cordoba, Spain. LA - eng PT - Consensus Development Conference PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20140427 PL - United States TA - J Neurooncol JT - Journal of neuro-oncology JID - 8309335 SB - IM MH - Astrocytoma/diagnosis/diagnostic imaging/therapy MH - Brain/*diagnostic imaging/pathology MH - Brain Diseases/*diagnostic imaging/*etiology MH - Brain Neoplasms/diagnosis/diagnostic imaging/therapy MH - Diagnosis, Differential MH - Humans MH - Neuroimaging/*methods MH - Radiography MH - Tuberous Sclerosis/*complications/*diagnostic imaging MH - Ultrasonography, Prenatal EDAT- 2014/04/29 06:00 MHDA- 2015/02/05 06:00 CRDT- 2014/04/29 06:00 PHST- 2013/12/06 00:00 [received] PHST- 2014/03/28 00:00 [accepted] PHST- 2014/04/29 06:00 [entrez] PHST- 2014/04/29 06:00 [pubmed] PHST- 2015/02/05 06:00 [medline] AID - 10.1007/s11060-014-1429-y [pii] AID - 10.1007/s11060-014-1429-y [doi] PST - ppublish SO - J Neurooncol. 2014 Jun;118(2):205-223. doi: 10.1007/s11060-014-1429-y. Epub 2014 Apr 27.