Neuroimaging in tuberous sclerosis complex.
Childs Nerv Syst
; 36(10): 2497-2509, 2020 10.
Article
em En
| MEDLINE
| ID: mdl-32519125
ABSTRACT
INTRODUCTION:
Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder affecting multiple systems, due to inactivating mutations of TSC1 or TSC2 mTOR pathway genes. Neurological manifestations are observed in about 95% cases, representing the most frequent cause of morbidity and one of the most common causes of mortality.BACKGROUND:
Neuroimaging is crucial for early diagnosis, monitoring, and management of these patients. While computed tomography is generally used as first-line investigation at emergency department, magnetic resonance imaging is the reference method to define central nervous system involvement and investigate subtle pathophysiological alterations in TSC patients.PURPOSE:
Here, we review the state-of-the-art knowledge in TSC brain imaging, describing conventional findings and depicting the role of advanced techniques in providing new insights on the disease, also offering an overview on future perspectives of neuroimaging applications for a better understanding of disease pathophysiology.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Esclerose Tuberosa
Tipo de estudo:
Screening_studies
Limite:
Humans
Idioma:
En
Revista:
Childs Nerv Syst
Assunto da revista:
NEUROLOGIA
/
PEDIATRIA
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Itália