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Neuroimaging in tuberous sclerosis complex

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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.

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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

RML:

Radial migration lines

CTG:

Caudothalamic groove

TAND:

TSC-associated neuropsychiatric disorders

US:

Ultrasonography

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Authors and Affiliations

  1. Department of Pediatric Neurosciences, Pediatric Neuroradiology Unit, Santobono-Pausilipon Children’s Hospital, Naples, Italy

    Camilla Russo, Anna Nastro, Domenico Cicala, Maria De Liso & Eugenio Maria Covelli

  2. Department of Electrical Engineering and Information Technology (DIETI), University of Naples “Federico II”, Naples, Italy

    Camilla Russo

  3. Department of Pediatric Neurosciences, Pediatric Neurosurgery Unit, Santobono-Pausilipon Children’s Hospital, Via Mario Fiore n. 6, 80129, Naples, Italy

    Giuseppe Cinalli

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  1. Camilla Russo
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  2. Anna Nastro
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  3. Domenico Cicala
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  4. Maria De Liso
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  5. Eugenio Maria Covelli
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All Authors make substantial contributions to conception and design, and/or acquisition of data, and/or analysis and interpretation of data according to ICMJE recommendations. All those who have made substantive contributions to the article have been named as authors.

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Correspondence to Giuseppe Cinalli.

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Russo, C., Nastro, A., Cicala, D. et al. Neuroimaging in tuberous sclerosis complex. Childs Nerv Syst 36, 2497–2509 (2020). https://doi.org/10.1007/s00381-020-04705-4

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