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      Tuberous sclerosis complex and sphenoid meningioma Translated title: Complexo esclerose tuberosa e meningioma do esfenóide

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          Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria.

          At the recent tuberous sclerosis complex consensus conference, the clinical diagnostic criteria for tuberous sclerosis complex were simplified and revised to reflect both new clinical information about tuberous sclerosis complex and an improved understanding of the disorder derived from molecular genetic studies. Based on this new information, some clinical signs once regarded as pathognomonic for tuberous sclerosis complex are now known to be less specific. No single sign is present in all affected patients, and there is no proof that any single clinical or radiographic sign is absolutely specific for tuberous sclerosis complex. Accordingly, the clinical and radiographic features of tuberous sclerosis complex have now been divided into major and minor categories based on the apparent degree of specificity for tuberous sclerosis complex of each feature. A definitive diagnosis of tuberous sclerosis complex now requires two or more distinct types of lesions, rather than multiple lesions of the same type in the same organ system. Although diagnosis on purely clinical grounds can continue to be difficult in a few patients, there should be little doubt about the diagnosis for those individuals who fulfill these strict criteria. Couples with more than one child with tuberous sclerosis complex, no extended family history, and no clinical features of tuberous sclerosis complex are more likely to have germline mosaicism for tuberous sclerosis than nonexpression of the mutation. Germline mosaicism, while fortunately rare, will not be suspected from either diagnostic criteria or molecular testing until a couple has multiple affected children. Genetic counseling for families with one affected child should include a small (1% to 2%) possibility of recurrence, even for parents who have no evidence of tuberous sclerosis complex after a thorough diagnostic evaluation.
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            Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients.

            The Tuberous Sclerosis Complex 1998 Consensus Conference clinical criteria represent an important advance in the diagnosis of tuberous sclerosis complex. Since many findings regarded as highly specific for tuberous sclerosis complex are not apparent until late childhood or adulthood, refinements by age may prove of value. We have stratified 106 children into five age groups (0 to 2 years of age, above 2 to 5 years, above 5 to 9 years, above 9 to 14 years, and above 14 to 18 years). Physicians should be alerted as to the frequency of the criteria in different stages of children.
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              Developmental origin of subependymal giant cell astrocytoma in tuberous sclerosis complex.

              Children with tuberous sclerosis complex (TSC) harbor developmental brain abnormalities (cortical tubers) and low-grade tumors (subependymal giant cell astrocytomas [SEGAs]). Using gene expression profiling to identify neuroglial differentiation markers in Tsc1 conditional knockout mice, the authors demonstrate that giant cells of SEGAs aberrantly express similar neuroglial differentiation markers as do cortical tubers. These results suggest that both tubers and SEGAs result from related defects in progenitor cell differentiation during brain development.
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                Author and article information

                Journal
                anp
                Arquivos de Neuro-Psiquiatria
                Arq. Neuro-Psiquiatr.
                Academia Brasileira de Neurologia - ABNEURO (São Paulo, SP, Brazil )
                0004-282X
                1678-4227
                June 2010
                : 68
                : 3
                : 455-458
                Affiliations
                [01] orgnameUniversidad Autónoma de Nayarit orgdiv1Unidad Académica de Medicina México
                [02] orgnameInstituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez orgdiv1Departamento de Neuropatología México
                [03] orgnameInstituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez orgdiv1Servicio de Neurocirugía México
                [04] orgnameInstituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez orgdiv1Servicio de Neuropsiquiatría México
                Article
                S0004-282X2010000300023 S0004-282X(10)06800323
                4d219a5c-2189-4e1b-b002-156c7732e5be

                This work is licensed under a Creative Commons Attribution 4.0 International License.

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