Type:
Educational Exhibit
Keywords:
Paediatric, MR, CT, Education, Genetic defects
Authors:
R. Ioppolo1, V. Cosi1, H. Ahmed Sheikh Maye1, F. D'Arco2; 1Bologna/IT, 2London/UK
DOI:
10.26044/ecr2019/C-0137
Background
TSC is a rare autosomal dominant neurocutaneous syndrome characterized by the presence of benign congenital tumors in multiple organs.
Hamartomas are frequently present in the skin,
brain,
kidneys and heart.
Less frequently hamartomas involve the lungs,
retina,
gengiva,
bones and gastrointestinal tract.
The wide range of organs affected by the disease implies that TSC1 and TSC2 genes play important roles in the regulation of cell proliferation and differentiation.
The classic Vogt's triad (facial angiofibromas,
mental retardation and intractable epilepsy) is presnet in less than 40% of affected patients.
The demonstration of a pathogenic mutation in the TSC1 or TSC2 gene is now considered sufficient for the diagnosis of TSC,
independent of clinical manifestations.
Clinical diagnostic criteria are important,
however,
because genetic testing may not identify a mutation in up to 25% of patients.
The cliniclan criteria are divided into major and minor features,
with definitive diagnosis defined by the presence of at least two major features or one major and two minor features.
Imaging is important in the evaluation of TSC because of its role not only in presumptive diagnosis,
but in defining the full extent of involvment and contributing to treatment planning.
Although recent advances in treatment have improved morbidity,
the prognosis remains quite poor and nearly 40% of patients die by the age of 35 years.