Tuberous sclerosis complex: a review of neurological aspects

Curatolo, Paolo; Verdecchia, Magda; Bombardieri, Roberta

doi:10.1053/ejpn.2001.0538

Cited by 186 publications

(134 citation statements)

References 26 publications

(37 reference statements)

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“…Although TSC affects different organ systems, central nervous system involvement is common, resulting in developmental delay, neurobehavioral disability (such as autism), and often severe epilepsy [117,180,181]. Genotypephenotype correlation studies suggest that patients with TSC2 mutations may have a more severe neurologic phenotype [182][183][184][185].…”

Section: Clinical and Neuropathologic Featuresmentioning

confidence: 99%

“…Epilepsy is reported in >80 % of patients diagnosed with TSC and significantly affects psychomotor development and quality of life, as failure to respond to anticonvulsant drug treatment is particularly common in TSC patients [180,215]. Cortical tubers are considered to represent the neuropathologic substrate of epilepsy in TSC patients.…”

Section: Epileptogenesismentioning

confidence: 99%

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Epilepsy Related to Developmental Tumors and Malformations of Cortical Development

Aronica

Crino

2014

Neurotherapeutics

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Section: Clinical and Neuropathologic Featuresmentioning

confidence: 99%

Section: Epileptogenesismentioning

confidence: 99%

Epilepsy Related to Developmental Tumors and Malformations of Cortical Development

Aronica

Crino

2014

Neurotherapeutics

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“…The incidence of SEGA in tuberous sclerosis complex (TSC) varies from 5% to 14% [1][2][3] . Although this tumor is considered specific for TSC, there are reports of patients with SEGA who have none of the other stigmata of TSC.…”

mentioning

confidence: 99%

Subependymal giant cell astrocytoma with high choline/creatine ratio on proton MR spectroscopy

Neto

Gasparetto

Bruck

2006

Arq. Neuro-Psiquiatr.

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-Objective: To report a case of subependymal giant cell astrocytoma (SEGA) in a patient with tuberous sclerosis, emphasizing the proton MR spectroscopy (MRS) findings. Case: A three year-old boy with tuberous sclerosis presented with a 3-month history of mild headache. The physical examination showed discrete mental retardation and multiple hypomelanic macules in the legs and back. MRI showed many cortical tubers and subependymal nodules. At the left foramen of Monro, there was a 15 mm nodule, with heterogeneous signal on T1 and T2-weighted images, and strong enhancement after contrast administration. MRS study TE=144ms) showed the following ratios: a) left foramen of Monro nodule N-acetylaspartate (NAA)/creatine (Cr)=0.93 and Choline (Cho)/Cr=1.6 and b) at the right Monro foramen NAA/Cr=1.56 and Cho/Cr=1.29. Conclusion: The MRS performed at the SEGA may show high Cho/Cr and low NAA/Cr ratios, similar to the other brain neoplasms. As a consequence, MRS may be a valuable tool for the early detection of neoplastic transformation of subependymal nodules near the foramina of Monro in patients with tuberous sclerosis.KEY WORDS: subependymal giant cell astrocytoma, proton magnetic resonance spectroscopy, tuberous sclerosis.Astrocitoma subependimário de células gigantes com alta relação colina/creatina à espectroscopia de prótons por ressonância magnética RESUMO -Objetivo: Relatar caso de astrocitoma subependimário de células gigantes (ASCG) em paciente com esclerose tuberosa, enfatizando os achados de espectroscopia de prótons por ressonância magnética (EPRM). Caso: Um menino de três anos de idade apresentou-se com cefaléia por três meses. O exame físi-co demonstrou retardo mental discreto e múltiplas máculas hipomelanóticas no dorso e pernas. A ressonân-cia magnética (RM) evidenciou múltiplos túberes corticais e nódulos subependimários. No forame de Monro esquerdo foi observado um nódulo de 15 mm, com sinal heterogêneo nas imagens ponderadas em T1 e T2, e realce intenso após a administração de contraste. A EPRM (multi-voxel PRESS, TE=144ms) demonstrou as seguintes relações: a) no nódulo no forame de Monro esquerdo N-acetilaspartato (NAA)/creatina (Cr)=0,93 e colina (Cho)/Cr=1,6 e b) no forame de Monro direito NAA/Cr=1,56 and Cho/Cr=1,29. Conclusão: A EPRM pode demonstrar relações altas de Cho/Cr e baixas de NAA/Cr em pacientes com ASCG, semelhante a outros tumores cerebrais. Sendo assim, a EPRM pode representar importante ferramenta diagnóstica na detecção precoce de transformação neoplásica de nódulos subependimários próximos ao forame de Monro em pacientes portadores de esclerose tuberosa. PALAVRAS-CHAVE: astrocitoma subependimário de células gigantes, espectroscopia de prótons por ressonân-cia magnética, esclerose tuberosa.Subependymal giant cell astrocytoma (SEGA) is a tumor that typically occurs in the lateral ventricles near the foramina of Monro. The incidence of SEGA in tuberous sclerosis complex (TSC) varies from 5% to 14% [1][2][3] . Although this tumor is considered specific for TSC, there are r...

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“…The diagnostic definition of SGCA is not based only on histological findings because they are similar to the other subependymal nodules and cortical tubers 14,15 . As a result, previous studies have investigated the MR imaging findings that could be associated with neoplastic degeneration of the subependymal nodules.…”

Section: Discussionmentioning

confidence: 99%

“…As a result, previous studies have investigated the MR imaging findings that could be associated with neoplastic degeneration of the subependymal nodules. Significant changes in the size or the pattern of contrast enhancement of the lesions were suggested as determinant imaging factors 14,15 . In addition, the association of conventional and advanced MR imaging techniques, such as 1H-MRS, could allow even earlier diagnosis of SGCA.…”

Section: Discussionmentioning

confidence: 99%

Proton MR spectroscopy of the foramen of Monro region in patients with tuberous sclerosis complex

Carvalho-Neto¹,

Bruck²,

Antoniuk³

et al. 2008

Arq. Neuro-Psiquiatr.

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-Purpose:To evaluate with 1H-magnetic resonance spectroscopy (MRS) the metabolites rations of the foramen of Monro's region in patients with tuberous sclerosis complex (TSC). Method: Twelve patients with TSC and an age and gender-matched control group underwent MR imaging at a 1.5T scanner, and 1H-MRS at the foramen of Monro level with a multivoxel acquisition. Similar volumes of interest were selected in each side of the foramen of Monro and in the basal ganglia (lentiform nuclei). The obtained N-acetylaspartate (NAA), creatine (Cr) and choline (Cho) peak amplitude values and ratios were studied. The statistical analysis was performed and p<0.05 was considered statically significant. Results: There was no significant difference between the NAA/Cr and Cho/Cr ratios near to the foramen of Monro and basal ganglia of the TSC patients compared with the controls (p>0.05). Conclusion: The NAA/Cr and Cho/Cr ratios near to the foramen of Monro and basal ganglia of TSC patients are similar to the rations obtained in the control group.Key woRdS: tuberous sclerosis complex, magnetic resonance imaging, proton spectroscopy. espectroscopia de prótons por rM da região do forame de Monro em pacientes com complexo esclerose tuberosaResumo -Objetivo: Avaliar através de espectroscopia de prótons as relações dos metabólitos da região do forame de Monro em pacientes com complexo esclerose tuberosa (CeT). Método: doze pacientes com CeT e um grupo controle pareado por sexo e idade realizaram RM em aparelho de 1,5T, e a espectroscopia de prótons foi obtida ao nível do forame de Monro com aquisição multi-voxel. Volumes de interesse similares foram posicionados em cada lado do forame de Monro e nos gânglios da base (núcleos lentiformes). os valores das relações e amplitudes de pico do N-acetilaspartato (NAA), creatina (Cr) e colina (Cho) foram estudados. A análise estatística foi realizada e valores de p<0,05 foram considerados estatisticamente significativos. Resultados: Não houve diferença significativa entre as relações NAA/Cr e Cho/Cr na região do forame de Monro e nos gânglios da base dos pacientes com CeT comparados com os controles (p>0,05). Conclusão: As relações NAA/Cr e Cho/Cr na região do forame de Monro e nos gânglios da base de pacientes com CeT são semelhantes àquelas obtidas no grupo controle. PAlAVRAS-CHAVe: complexo esclerose tuberosa, imagem por ressonância magnética, espectroscopia de prótons.

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Tuberous sclerosis complex: a review of neurological aspects

Cited by 186 publications

References 26 publications

Epilepsy Related to Developmental Tumors and Malformations of Cortical Development

Epilepsy Related to Developmental Tumors and Malformations of Cortical Development

Subependymal giant cell astrocytoma with high choline/creatine ratio on proton MR spectroscopy

Proton MR spectroscopy of the foramen of Monro region in patients with tuberous sclerosis complex

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