Federica Galli MD, Presenter: Nothing to Disclose

Maria Lovisatti, Abstract Co-Author: Nothing to Disclose

Giovanni Guido Pompili MD, Abstract Co-Author: Nothing to Disclose

Fabiane Silva Barbosa, Abstract Co-Author: Nothing to Disclose

Francesco Sardanelli MD, Abstract Co-Author: Consultant, Bracco Group

Gianpaolo Cornalba MD, Abstract Co-Author: Nothing to Disclose

Giovanni Di Leo, Abstract Co-Author: Nothing to Disclose

To estimate associations among IQ, genetic pattern, and MRI findings in patients with TSC.

We retrospectively studied 54 consecutive TSC patients who underwent brain MRI before/after injection of 1 mmol/kg of gadobutrol. Sequences included axial dual-echo T2/PD-w, coronal FLAIR, sagittal spin-echo T1-w and coronal inversion recovery T1-w. Two neuroradiologists in consensus looked for cortical tubers in the frontal, temporal, parietal, and occipital lobes and cerebellum. For each patients, the total number of tubers and the size of the largest of them, and the subependimal nodules entered the analysis. Patients were assessed for mutation of TSC1 and TSC2 genes. IQ was judged as normal, medium cognitive impairment, or severe cognitive impairment. Kruskal-Wallis and χ2 tests were used.

Out of 54 patients, 12 (22.2%) had no mutation, 11 (20.4%) had TSC1 mutation, and 31 (57.4%) had TSC2 mutation. Patients without mutation, those with TSC1 mutation, and those with TSC2 mutation had a median number of tubers of 3,10, 24, respectively (P<.001); the median sizes of the largest tuber were 16 mm, 13 mm, and 23 mm, respectively (P=.006). The median number of tubers of normal-IQ patients, of patients with medium and severe cognitive impairment were 9, 22, and 27, respectively (P<.001); the median sizes of the largest tuber were 15 mm, 13 mm, and 20 mm, respectively (P=.012). The spatial distribution of tubers within brain lobes was not associated neither with IQ (P=.963) or genetic pattern (P=.939). All 12 patients without mutation had a normal IQ; 10/11 TSC1 patients had a normal IQ and 1/11 had a severe cognitive impairment; 9/31 TSC2 patients had a normal IQ, 4/31 had a medium cognitive impairment, 18/31 had a severe cognitive impairment (P<.001). The median number of subependimal nodules in patients without mutation, those with TSC1 mutation, and those with TSC2 mutation was 0.5, 1, and 2, respectively (P=.005).

Patients with TSC2 mutation were associated with a larger number and size of tubers, with severe cognitive impairment, and with a larger number of subependimal nodules. IQ and genetic pattern were not associated with tuber distribution within the brain.

When assessing TSC patients using brain MRI, it is important to evaluate the lesion burden in terms of number and size of tubers that correlate with both IQ and genetic pattern.

Galli, F, Lovisatti, M, Pompili, G, Silva Barbosa, F, Sardanelli, F, Cornalba, G, Di Leo, G, Tuberosis Sclerosis Complex (TSC) Patients: Association among Intelligence Quotient (IQ), Genetic Pattern, and Brain MRI Findings.  Radiological Society of North America 2010 Scientific Assembly and Annual Meeting, November 28 - December 3, 2010 ,Chicago IL. http://archive.rsna.org/2010/9015036.html