Neuroimaging in tuberous sclerosis complex
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ANNUAL ISSUE PAPER
Neuroimaging in tuberous sclerosis complex Camilla Russo 1,2 & Anna Nastro 1 & Domenico Cicala 1 & Maria De Liso 1 & Eugenio Maria Covelli 1 & Giuseppe Cinalli 3 Received: 13 May 2020 / Accepted: 25 May 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
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. Keywords Autism . Central nervous system . Epilepsy . Magnetic resonance imaging . Sub-ependymal giant cell astrocytoma . Tuberous sclerosis complex
Abbreviations TSC Tuberous sclerosis complex mTOR Mammalian target of rapamycin CNS Central nervous system MRI Magnetic resonance imaging CT Cortical tubers WML White matter lesions SEN Sub-ependymal nodules SEGA Sub-ependymal giant cell astrocytoma PET Positron emission tomography SPECT Single photon emission computed tomography DTI Diffusion tensor imaging RS-fMRI Resting state functional magnetic resonance imaging
* Giuseppe Cinalli [email protected] 1
Department of Pediatric Neurosciences, Pediatric Neuroradiology Unit, Santobono-Pausilipon Children’s Hospital, Naples, Italy
2
Department of Electrical Engineering and Information Technology (DIETI), University of Naples “Federico II”, Naples, Italy
3
Department of Pediatric Neurosciences, Pediatric Neurosurgery Unit, Santobono-Pausilipon Children’s Hospital, Via Mario Fiore n. 6, 80129 Naples, Italy
RML CTG TAND US
Radial migration lines Caudothalamic groove TSC-associated neuropsychiatric disorders Ultrasonography
Introduction Tuberous sclerosis complex (TSC) is a rare monogenic neurocutaneous syndrome due to inactivating mutations of TSC1 or TSC2 mTOR pathway genes, with variable multisystem manifestations ranging from hamartomas to malignant neoplasms and frequently associated to facial lesions, seizures, intellectual disability or behavioural disorders [1]. TSC is estimated to be 1:6000–1:11,000 people, with no evidence of gender predilection but milder phenotype in female subjects [2, 3]; phenotype-genotype correlation can be variable due to mosaicism or epigenetic factors [4, 5], howe
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