Comparative analysis of MR sequences to detect structural brain lesions in tuberous sclerosis

Gama, Hugo Pereira Pinto; Rocha, Antônio José da; Braga, Flávio Túlio; Silva, Carlos Jorge da; Maia, Antônio Carlos Martins; Meirelles, Rogério Gonçalves de Campos; Rego, José Iram Mendonça do; Lederman, Henrique Manoel

doi:10.1007/s00247-005-0033-x

Cited by 37 publications

(33 citation statements)

References 23 publications

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“…However, delineating the role that such abnormalities may have on the progression of ASD in TSC will pose substantial methodologic challenges. Despite our use of the MRI FLAIR sequences, which have an increased sensitivity for tuber identification, 23,24 we failed to find a significant relationship with tuber localization and ASD. A number of explanations exist for these findings, including methodologic flaws that may be inherent to assessment of cortical tubers by MRI in TSC.…”

Section: -27mentioning

confidence: 65%

“…Each cere- bral lobe was evaluated for the presence of cortical tubers, cystlike tubers (figure e-1, A and B), and cortical tubers with calcifications (figure e-1, C and D). 15,23,24 Tubers demonstrating central or peripheral fluid-attenuation inversion recovery (FLAIR) suppression and concomitant increases in fast spinecho T2 signal intensity were classified as cyst-like. Tubers with regions containing concomitant suppression of FLAIR and T2 signal intensity were classified as tubers with calcification.…”

Section: Tsc Mutational Analysismentioning

confidence: 99%

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Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex

Numis

Major²,

Montenegro³

et al. 2011

Neurology

185

184

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Objective: The purpose of this study was to assess the prevalence of and to identify epidemiologic, genetic, electrophysiologic, and neuroanatomic risk factors for autism spectrum disorders (ASD) in a cohort of patients with tuberous sclerosis complex (TSC). Methods:A total of 103 patients with TSC were evaluated for ASD. A retrospective review of patients' records was performed, including mutational analysis. EEG reports were analyzed for the presence of ictal and interictal epileptiform features. Brain MRI scans were evaluated for TSC neuropathology, including tuber burden. Results:Of the 103 patients with TSC, 40% were diagnosed with an ASD. On univariate analysis, patients with ASD were less likely to have mutations in the TSC1 gene. Patients with ASD also had an earlier age at seizure onset and more frequent seizures. On EEG, those with ASD had a significantly greater amount of interictal epileptiform features in the left temporal lobe only. On MRI, there were no differences in the regional distribution of tuber burden, although those with TSC2 and ASD had a higher prevalence of cyst-like tubers. Conclusions:The development of ASD in TSC is not well understood. Given our findings, ASD may be associated with persistent seizure activity early in development in particular brain regions, such as those responsible for social perception and communication in the left temporal lobe. The presence of cyst-like tubers on MRI could provide a structural basis or marker for ASD pathology in TSC, although studies assessing their effect on cortical function are needed. Neurology Tuberous sclerosis complex (TSC) is an autosomal dominant disorder resulting from mutations in the TSC1 or the TSC2 gene.1,2 Neurologic involvement occurs in more than 90% of individuals and comprises several distinct lesions.3 Seizure disorders are present in 70%-90% of patients and often develop within the first year of life.4 Developmental and behavioral disorders, including autism spectrum disorders (ASD), are also frequently diagnosed in TSC.ASD are characterized by impaired social interaction, restricted interests, and repetitive behaviors. ASD affects between 17% and 63% of patients with TSC, a prevalence dramatically higher than that of the general population. 5,6 Studies suggest that mental retardation and early onset of epilepsy in TSC, in particular infantile spasms, are associated with the development of ASD in this group. 7,8 In addition, there is evidence of an association between temporal lobe epileptiform foci with ASD in TSC.9 However, investigations seeking to implicate TSC genetics 10 -12 or neuropathology [13][14][15][16][17][18][19] in ASD have yielded inconclusive results. Discrepancies between investigations may result, in part, from varying methods used to diagnose ASD. To date, no

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Section: -27mentioning

confidence: 65%

Section: Tsc Mutational Analysismentioning

confidence: 99%

Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex

Numis

Major²,

Montenegro³

et al. 2011

Neurology

185

184

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“…Lesions were quantified with the most appropriate sequence for each patient, according to previously described methods. 14 The hippocampi were qualitatively evaluated on coronal MR images with respect to size, morphology, signal intensity, and the side of the abnormality. MTS was characterized by hyperintensity on FLAIR and T2-weighted images, atrophy, and loss of the internal architecture of the hippocampus.…”

Section: Methodsmentioning

confidence: 99%

Hippocampal Abnormalities in an MR Imaging Series of Patients with Tuberous Sclerosis

Gama¹,

Rocha²,

Valério³

et al. 2010

AJNR Am J Neuroradiol

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BACKGROUND AND PURPOSE:Hippocampal abnormalities are known as highly epileptogenic precursor lesions in the general population, primarily manifesting as MTS. The purpose of this study was to evaluate the occurrence of hippocampal abnormalities on MR imaging in patients with TS to explore the possible underlying mechanisms of the abnormalities and to identify the relationship between an abnormal HF and epilepsy.

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“…169,170 MT-MRI has been proven to be useful for the study of the normal 171 and pathological 172 adenohypophysis. In patients with hyperprolactinemia, the MTR of prolactin-secreting tumors is higher and that of the nonsecreting adenomas is lower than the MTR values of the normal pituitary gland of age-and sex-matched controls.…”

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confidence: 99%

Magnetization Transfer Magnetic Resonance Imaging of the Brain, Spinal Cord, and Optic Nerve

Filippi

Rocca

2007

Neurotherapeutics

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Summary:Magnetic resonance imaging is highly sensitive in revealing CNS abnormalities associated with several neurological conditions, but lacks specificity for their pathological substrates. In addition, MRI does not allow evaluation of the presence and extent of damage in regions that appear normal on conventional MRI sequences and that postmortem studies have shown to be affected by pathology. Quantitative MR-based techniques with increased pathological specificity to the heterogeneous substrates of CNS pathology have the potential to overcome such limitations. Among these techniques, one of the most extensively used for the assessment of CNS disorders is magnetization transfer MRI (MT-MRI). The application of this technique for the assessment of damage in macroscopic lesions, in normal-appearing white and gray matter, and in the spinal cord and optic nerve of patients with several neurological conditions is providing important in vivo information-dramatically improving our understanding of the factors associated with the appearance of clinical symptoms and the accumulation of irreversible disability. MT-MRI also has the potential to contribute to the diagnostic evaluation of several neurological conditions and to improve our ability to monitor treatment efficacy in experimental trials.

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Comparative analysis of MR sequences to detect structural brain lesions in tuberous sclerosis

Cited by 37 publications

References 23 publications

Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex

Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex

Hippocampal Abnormalities in an MR Imaging Series of Patients with Tuberous Sclerosis

Magnetization Transfer Magnetic Resonance Imaging of the Brain, Spinal Cord, and Optic Nerve

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