Type:
Educational Exhibit
Keywords:
Molecular, genomics and proteomics, Genetic defects, Education, MR, CT, Neuroradiology brain, CNS
Authors:
F. Dossin1, M. Dorigatti Soldatelli1, T. M. B. Da Conceição2, F. Pereira dos Santos1, B. C. Chwal1, C. Brinckmann Oliveira Netto1, J. Ávila Duarte1; 1Porto Alegre/BR, 2Porto Alegre, RS/BR
DOI:
10.26044/ecr2019/C-3179
Background
Advances in genetics,
molecular biology and neuroimaging have led to a better understanding and early recognition of syndromic conditions associated with an increased propensity for developing brain tumors,
like Tuberous Sclerosis Complex,
providing clinically relevant information for screening and surveillance for patients and their families.
Magnetic resonance imaging (MRI) has superior soft-tissue contrast is the preferred imaging modality for these syndromes.
Tuberous Sclerosis Complex (TSC) is a genetically determined hamartomatous neurocutaneous disease with high phenotypic variability,
involving many organ systems.
TSC is an autosomal dominant disorder caused by a mutation in the TSC1 or TSC2 genes,
most commonly associated with de novo mutations.
It is characterized by the development of multiple benign tumors in the brains,
heart,
skin,
eyes,
kidney,
liver and lungs.
In addition to the wide range of organs affected by the disease,
TSC can vary substantially in its age of onset and severity of disease,
even among individuals within the same family.
TSC can be diagnosed by genetic testing and/or a combination of clinical and imaging criteria.
A TSC1 or TSC2 pathogenic DNA mutation detected in normal tissue is sufficient for the diagnosis of TSC.
The clinical and imaging criteria include 11 major and 6 minor features,
requiring two major features or one major and two minor features to establish a definite diagnosis.
The central nervous system characteristic lesions of TSC included in the diagnostic criteria are:
- Cortical tubers ;
- White matter abnormalities ;
- Subependymal nodules ;
- Subependymal Giant Cell Astrocitomas (SEGAs) .