Tuberous sclerosis: a clinicoradiological evaluation of 110 cases with particular reference to atypical presentation

Kingsley, D. P. E.; Kendall, B. E.; Fitz, Charles R.

doi:10.1007/bf00341764

Cited by 136 publications

(58 citation statements)

References 25 publications

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“…By age ten, fifty percent of patients have calcified cortical tubers. 5 For last 3 months she complaints of blurring of vision without any other ocular symptoms. On G/E-she is restless, inattentive and have variou types of charecteristic skin lesionss (adenoma sebsceum, shegeens patch, ashleaf spots) in multiple sites.…”

Section: Discussionmentioning

confidence: 99%

Tuberous Sclerosis - A Case Report

et al. 2013

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The aim of this case report was to present a typical case of tuberous sclerosis. On 28 April 2012 a 8 year old female student reported as out patient of Ophthalmology Department, BSMMU, Dhaka. After taking history from the patient, ocular and systemic examinations were done. This patient had recurrent attacks of convulsion since 2 months of age and blurring of vision for 3 months. Ocular examination revealed fundus astrocytomas and patchy iris hypo-pigmentation. Systemic examination present with adenoma sebaceum. For diagnosis purpose, she was advised for investigation. CT scan of brain-Multiple cerebral calcification with bilateral multifocal cerebral atrophy. USG of whole abdomen-suggestive of cystitis. Methodical ocular and systemic examinations with appropriate investigations are mandatory to diagnose a case of tuberous sclerosis.

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Section: Discussionmentioning

confidence: 99%

Tuberous Sclerosis - A Case Report

et al. 2013

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“…In contrast to the other tuberous sclerosis complex-related lesions, new tubers do not occur postnatally. Neoplastic transformation is not observed in the tubers and they calcify in time (18,20,21,22). Subependymal nodules are formations smaller than 1 cm localized in the surface of the lateral ventricle and third ventricle which occur in the fetal period.…”

Section: B Clinical Diagnostic Criteriamentioning

confidence: 99%

“…They are considered not to be related with epilepsy and behavioral problems. They are observed in 80-90% of the patients with tuberous sclerosis complex (18,20,21,22). Subependymal giant cell tumor is observed in 10-15% of the patients and frequently in the first 20 years.…”

Section: B Clinical Diagnostic Criteriamentioning

confidence: 99%

Tuberous sclerosis complex; a single center experience

Erol¹,

Savaş²,

Şekerci³

et al. 2015

Turk Arch Ped

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Aim: This study was planned with the aim of retrospectively reviewing the clinical and laboratory findings and therapies of our patients diagnosed with tuberous sclerosis and redefining the patients according to the diagnostic criteria revised by the 2012 International Tuberous Sclerosis Complex Consensus Group and comparing them with the literature. Material and Methods: Twenty patients diagnosed with tuberous sclerosis complex in the Pediatric Neurology Clinic were examined retrospectively in terms of clinical findings and therapies. The diagnoses were compared again according to 1998 and 2012 criteria. Results: It was observed that the complaint at presentation was seizure in 17 of 20 patients and hypopigmented spots on the skin in 3 of 20 patients. On the initial physical examination, findings related with the disease were found in the skin in 17 of the patients, in the eye in 5, in the kidneys in 7 and in the brain with imaging in 17. No cardiac involvement was observed in the patients. Infantile spasm was observed in 7 of the patients who presented because of seizure (n=17), partial seizure was observed in 7 and multiple seizure types were observed in 3. It was found that sirolimus treatment was given to 9 of 20 patients because of different reasons, 7 of these 9 patients had epileptic seizures and sirolimus treatment had no effect on epileptic seizures. According to 2012 diagnostic criteria, no marked change occured in the diagnoses of our patients. Conclusions: It was observed that the signs and symptoms of our patients were compatible with the literature. Molecular genetic examination was planned for the patients who were being followed up because of probable tuberous sclerosis complex. It was observed that sirolimus treatment had no marked effect on the seizure frequency of our patients. (Türk Ped Arş 2015; 50: 51-60)

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“…This subtype is f10 times less common than NF1, occurring in f1:40,000. Tuberous sclerosis is more common with an incidence of f1 in 5,000 (23). Data from two glioma case-control studies with f450 cases suggest that 1.7% (95% confidence interval, 0.8-3.5%) of cases can be ascribed to NF1, NF2, and tuberous sclerosis (9,19).…”

Section: Glioma-prone Syndromesmentioning

confidence: 99%

GLIOGENE—an International Consortium to Understand Familial Glioma

Malmer

Adatto

Armstrong

et al. 2007

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Evidence for familial aggregation of glioma has been documented in both case-control and cohort studies and occurs apart from the well-described rare inherited genetic syndromes involving glioma: neurofibromatosis type 1 and 2, tuberous sclerosis, Turcot's syndrome, and Li-Fraumeni syndrome. Nonsyndromic glioma families have been studied but no genes have been identified in the two published linkage studies of familial glioma probably due to the small number of families. Because glioma is a rare but devastating cancer, and a family history of glioma has been observed in f5% of the cases, we initiated an international consortium to identify glioma families not affected by syndromes to better understand the inherited factors related to this disease. The international consortium GLIOGENE is an acronym for ''glioma gene'' and includes 15 research groups in North America, Europe, and Israel to study familial glioma. The overarching goal is to characterize genes in glioma families using a genome-wide singlenucleotide polymorphism approach and conducting linkage analysis to identify new genomic regions or loci that could harbor genes important for gliomagenesis. Here, we review the rationale for studying familial glioma and our proposed strategy for the GLIOGENE study. (Cancer Epidemiol Biomarkers Prev 2007;16(9):1730 -4)

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Tuberous sclerosis: a clinicoradiological evaluation of 110 cases with particular reference to atypical presentation

Cited by 136 publications

References 25 publications

Tuberous Sclerosis - A Case Report

Tuberous Sclerosis - A Case Report

Tuberous sclerosis complex; a single center experience

GLIOGENE—an International Consortium to Understand Familial Glioma

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