Giant-cell astrocytomaSubependymal nodulesCortical tubersRecessiveTumorNodulesNeurocutaneousManifestations of tuberousPolycystic kidneyDiagnosisTSC1AngiofibromasComplexTumorsSyndromeLesionsAngiomyolipomasDiseaseNeurofibromatosisHamartomasSymptomsFacialRetinalPediatricPatientsIncidenceMutationCentral nervouGradeFeatures
Giant-cell astrocytoma11
- This subset comprises juvenile pilocytic astrocytoma (JPA), pilomyxoid astrocytoma, pleomorphic xanthoastrocytoma (PXA), and subependymal giant-cell astrocytoma (SEGA). (medscape.com)
- Subependymal giant cell astrocytoma is a rare tumor that occurs in the wall of the lateral ventricle and foramen of Monro and, rarely, in the third ventricle. (biomedcentral.com)
- It is one of the intracranial lesions found in tuberous sclerosis complex (which include subependymal nodules, cortical tubers, retinal astrocytoma and subependymal giant cell astrocytoma), but cases without such lesions have also been reported in the literature. (biomedcentral.com)
- At the 2012 Washington Consensus Conference, it was decided by the invited expert panel to document the definition of subependymal giant cell astrocytoma as a lesion at the caudothalamic groove with either a size of more than 1 cm in any direction or a subependymal lesion at any location that has shown serial growth on consecutive imaging regardless of size. (biomedcentral.com)
- however, a growing subependymal lesion even in the absence of enhancement should be considered a subependymal giant cell astrocytoma. (biomedcentral.com)
- We report a case of subependymal giant cell astrocytoma in a 10-year-old white girl, who had no clinical symptoms of tuberous sclerosis. (biomedcentral.com)
- After fixation in 10 % neutral-buffered formalin, embedding in paraffin and staining with hematoxylin, eosin and safran, the definitive diagnosis was subependymal giant cell astrocytoma. (biomedcentral.com)
- Subependymal giant cell astrocytoma is a rare tumor of the central nervous system whose diagnosis is based on clinical, radiological, histological and immunohistochemical arguments. (biomedcentral.com)
- We report a case of subependymal giant cell astrocytoma in a child without clinical symptoms of tuberous sclerosis. (biomedcentral.com)
- Brain involvement includes cortical dysplasias (tubers), subependymal nodules, and/or subependymal giant cell astrocytoma (SEGA), and is seen in almost all cases. (orpha.net)
- There can also be subependymal nodules or tumors called subependymal giant cell astrocytoma . (nervous-system-diseases.com)
Subependymal nodules5
- Brain phenotypes include cortical tubers, subependymal nodules (SENs), subependymal giant cell astrocytomas (SEGAs) and other morphologic abnormalities. (ubatubasat.com)
- this lesion is included in the 2012 International Tuberous Sclerosis Complex Consensus Group as a major feature (which includes subependymal nodules, cortical tubers, retinal astrocytoma and SEGA), but cases without such lesions have also been reported in the literature. (biomedcentral.com)
- Common features include cortical tubers, subependymal nodules (SENs), subependymal giant cell astrocytomas (SEGAs), facial angiofibromas, hypomelanotic spots known as Fitzpatrick patches (ash-leaf spots), cardiac rhabdomyomas, and renal angiomyolipomas. (medscape.com)
- Lesions associated with TSC include cortical tubers, subependymal nodules, and subependymal giant cell astrocytomas (SEGAs) in the CNS. (cap.org)
- Subependymal nodules and subependymal giant cell astrocytomas are often calcified, allowing for easy visualization by CT, and some display post-contrast enhancement. (cap.org)
Cortical tubers1
- Radiological studies demonstrated the typical cortical tubers leading to the diagnosis of tuberous sclerosis. (medscape.com)
Recessive1
- The majority of phakomatoses are single-gene disorders that may be inherited in an autosomal dominant, autosomal recessive or X-linked pattern. (wikipedia.org)
Tumor4
- Astrocytomas are one type of glioma, a tumor that forms from neoplastic transformation of the so-called supporting cells of the brain, the glia or neuroglia. (medscape.com)
- The autosomal dominant tumor syndrome tuberous sclerosis complex is caused by the mutated TSC1 gene, hamartin , and the TSC2 gene, tuberin . (medscape.com)
- Another benign tumor which often occurs together with tuberous sclerosis is the angiomyolipoma of the kidney. (medscape.com)
- Mutations in either TSC1 or TSC2, which are tumor suppressor genes that work together to facilitate tumor suppression, cause tuberous sclerosis complex. (medscape.com)
Nodules1
- 3 The name tuberous sclerosis comes from the characteristic tuber or potato-like nodules in the brain, which calcify with age and become hard or sclerotic. (uspharmacist.com)
Neurocutaneous4
- Tuberous sclerosis complex (TSC) is the second most common neurocutaneous disease. (medscape.com)
- Tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS) are prototypical neurocutaneous disorders. (uspharmacist.com)
- Tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS) are prototypical neurocutaneous disorders in which genetic mutations in pathways regulating cell growth cause developmental dysfunction of the brain, skin, and other organs. (uspharmacist.com)
- Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disorder seen in 1/6000 births. (ijord.com)
Manifestations of tuberous2
- Renal manifestations of tuberous sclerosis complex include angiomyolipomas and renal cysts. (medscape.com)
- Clinical and para clinical manifestations of tuberous sclerosis: a cross sectional study on 81 pediatric patients. (ijord.com)
Polycystic kidney3
- Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis is seen in up to 5% of patients presenting with TSC and should be excluded. (orpha.net)
- The gene for polycystic kidney disease (PKD), PKD1, is contiguous with the TSC2 gene on chromosome 16, and patients with tuberous sclerosis complex occasionally have symptoms of PKD. (medscape.com)
- Autosomal Dominant Polycystic Kidney Disease (ADPKD) Polycystic kidney disease (PKD) is a hereditary disorder of renal cyst formation causing gradual enlargement of both kidneys, sometimes with progression to renal failure. (msdmanuals.com)
Diagnosis4
- Improvements in neuroimaging permit the diagnosis of many low-grade astrocytomas that would not have been recognized previously. (medscape.com)
- For its rarity, we must consider this diagnosis when faced with a mass near the foramen of Monro in the pediatric population even if there are no other features of tuberous sclerosis complex. (biomedcentral.com)
- Genetic testing was performed, and a pathogenic variant in the TSC1 gene was identified, consistent with a diagnosis of tuberous sclerosis complex. (cap.org)
- To make a definitive diagnosis of tuberous sclerosis, physicians must demonstrate the presence of either 2 major features or 1 major feature with 2 other minor features. (nervous-system-diseases.com)
TSC12
- Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or TSC2. (nih.gov)
- TSC is characterized by autosomal-dominant mutations in the TSC1 or TSC2 genes (encoding for the protein Hamartin on chromosome 9q34 and Tuberin on chromosome 16q13 respectively) leading to overactivation of the mTOR (mechanistic target of rapamycin) pathway with increased cell proliferation and a range of other consequences. (uspharmacist.com)
Angiofibromas4
- Patients with this complex develop typical cutaneus symptoms such as peau chagrin or angiofibromas of the skin as well as other lesions such as astrocytomas in the brain and lymphangioleiomyomatosis in the lung. (medscape.com)
- Formerly characterized by the clinical triad of mental retardation, epilepsy , and facial angiofibromas, patients with tuberous sclerosis complex may present with a broad range of clinical symptoms because of variable expressivity. (medscape.com)
- Wheless JW, Almoazen H. A novel topical rapamycin cream for the treatment of facial angiofibromas in tuberous sclerosis complex. (ijord.com)
- Topical rapamycin: a novel approach to facial angiofibromas in tuberous sclerosis. (ijord.com)
Complex16
- Introduction The tuberous sclerosis complex (TSC) (OMIM 191100, 613?254) is a rare autosomal dominant disease that often causes substantial central nervous system pathology. (ubatubasat.com)
- It was described for the first time in 1908 by Vogt as part of the typical triad of tuberous sclerosis complex. (biomedcentral.com)
- SEGA affects 10 to 20% of tuberous sclerosis complex (TSC) patients, almost exclusively children and young adults. (orpha.net)
- [ 1 ] Tuberous sclerosis complex is inherited in an autosomal dominant pattern, although the rate of spontaneous mutation is high. (medscape.com)
- Tuberous sclerosis complex has a broad clinical spectrum and affects almost every organ system. (medscape.com)
- Differences in diffusion properties of white matter between tuberous sclerosis complex and control subjects suggest disorganized and structurally compromised axons with poor myelination. (medscape.com)
- Angiomyolipomas, found in 70-80% of patients with tuberous sclerosis complex, are composed of blood vessels, smooth muscle, adipose tissue, and connective tissue. (medscape.com)
- The genes responsible for tuberous sclerosis complex have been identified. (medscape.com)
- In 1993, TSC2, located on chromosome 16, was the first gene discovered to be involved in tuberous sclerosis complex. (medscape.com)
- Tuberous sclerosis complex is a dominantly inherited genetic disorder in which tumors (usually hamartomas) develop in multiple organs. (msdmanuals.com)
- The treatment for tuberous sclerosis is complex and varies from patient to patient depending on their specific clinical manifestations. (nervous-system-diseases.com)
- International Tuberous Sclerosis Complex Consensus Group. (ijord.com)
- Tuberous sclerosis complex surveillance and management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. (ijord.com)
- Birca A, Mercier C, Major P. Rapamycin as an alternative to surgical treatment of subependymal giant cell astrocytomas in a patient with tuberous sclerosis complex. (ijord.com)
- Mesenchymal‑epithelial interactions involving epiregulin in tuberous sclerosis complex hamaratomas. (ijord.com)
- Topical rapamycin therapy to alleviate the cutaneous manifestation of tuberous sclerosis complex-a double blind, randomised, controlled trial to evaluate safety and efficacy of topically applied rapamycin. (ijord.com)
Tumors4
- Low-grade astrocytomas are primary tumors (rather than extraaxial or metastatic tumors) of the brain. (medscape.com)
- The corresponding tumors are astrocytomas, oligodendrogliomas, and ependymomas. (medscape.com)
- Tumors without any of these features were classified as grade I. Tumors with cytological atypia alone were considered grade II (diffuse astrocytoma). (medscape.com)
- Astrocytomas Astrocytomas are central nervous system tumors that develop from astrocytes. (msdmanuals.com)
Syndrome2
- Association of Down syndrome and tuberous sclerosis and their similarities in m-TOR pathway overactivation. (elsevier.es)
- The association between Down syndrome and Tuberous sclerosis (DS/TSC) has very rarely been described. (elsevier.es)
Lesions2
- A subset of low-grade astrocytomas may have features of high-grade lesions including endothelial proliferation and necrosis, although they remain slow growing and well circumscribed. (medscape.com)
- The mTOR inhibitor rapamycin significantly improves facial angiofibroma lesions in a patient with tuberous sclerosis. (ijord.com)
Angiomyolipomas2
- Here we report a diagnostically challenging case of a 13-year-old patient with tuberous sclerosis and angiomyolipomas of the kidney who developed an unclassified renal cell carcinoma as well as multifocal micronodular pneumocyte hyperplasia. (medscape.com)
- Remarkable progress in basic and translational research, in addition to several randomized controlled trials worldwide, has led to regulatory approval of the use of mTOR inhibitors for the treatment of renal angiomyolipomas, brain subependymal giant cell astrocytomas and pulmonary lymphangioleiomyomatosis, but further research is needed to establish full indications of therapeutic treatment. (nih.gov)
Disease2
- TSC is an autosomal dominant disease, but the majority of cases are due to de novo mutations. (cap.org)
- It is an autosomal dominant hereditary disorder, meaning a person only has to receive one copy of the abnormal gene from one of their parents to have the disease. (nervous-system-diseases.com)
Neurofibromatosis3
- The term phakomatosis originated in 1923, when the Dutch ophthalmologist van der Hoeve used the term phakoma to refer to a "mother spot" or birthmark, a physical characteristic common to patients with tuberous sclerosis and neurofibromatosis that he examined. (wikipedia.org)
- He originally used the phrase to describe two diseases: neurofibromatosis and tuberous sclerosis. (wikipedia.org)
- Neurofibromatosis 1 is an autosomally dominant inherited genetic disorder that has variable clinical manifestations. (medlink.com)
Hamartomas1
- Ocular involvement includes retinal hamartomas or astrocytomas that may calcify but rarely lead to decreased visual acuity or other symptoms. (medscape.com)
Symptoms3
- Patients with tuberous sclerosis can present with varying symptoms. (nervous-system-diseases.com)
- In patients who present with any signs and symptoms consistent with tuberous sclerosis a full neurological evaluation is generally performed. (nervous-system-diseases.com)
- The major and minor features are lists of signs and symptoms which are classic for tuberous sclerosis. (nervous-system-diseases.com)
Facial1
- Sustained clinical effectiveness and favorable safety profile of topical sirolimus for tuberous sclerosis - Associated facial angiofibroma. (ijord.com)
Retinal1
- An examination that included a dermatological evaluation, a retinal examination, and body imaging revealed no stigmata of tuberous sclerosis. (biomedcentral.com)
Pediatric3
- Another important distinction is between pediatric and adult low-grade astrocytomas. (medscape.com)
- Pediatric low-grade astrocytomas exhibit markedly different molecular alterations, clinical course, and treatment than their adult counterpart. (medscape.com)
- Return to the Pediatric Diseases page from the Tuberous Sclerosis page. (nervous-system-diseases.com)
Patients3
- Low-grade astrocytomas are, by definition, slow growing, and patients survive much longer than those with high-grade gliomas. (medscape.com)
- Longest OS was seen in astrocytoma patients with preoperative TV ≤ 43.1 mL and postoperative TV ≤ 4.6 mL who received no chemotherapy and oligodendroglioma patients with preoperative TV ≤ 43.1 mL and postoperative TV ≤ 4.6 mL. (bvsalud.org)
- Only a few tuberous sclerosis patients have been described who showed a multifocal micronodular pneumocyte hyperplasia of the lung. (medscape.com)
Incidence1
- Furthermore, an increased incidence of renal cell carcinoma in connection with tuberous sclerosis has also been proven. (medscape.com)
Mutation1
- NF-2 may be inherited in an autosomal dominant fashion, as well as through random mutation. (wikidoc.org)
Central nervou2
- Low-grade astrocytomas are a heterogeneous group of intrinsic central nervous system (CNS) neoplasms that share certain similarities in their clinical presentation, radiologic appearance, prognosis, and treatment. (medscape.com)
- Low-grade astrocytomas are found along the central nervous system (brain and spinal cord). (medscape.com)
Grade3
- This contrasts with low-grade astrocytomas, which are less common and therefore less familiar to practitioners. (medscape.com)
- Those that show anaplasia and mitotic activity in addition to cytological atypia were considered grade III (anaplastic astrocytoma) and those exhibiting all of the previous features as well as microvascular proliferation and/or necrosis were considered grade IV. (medscape.com)
- Grades I and II astrocytomas comprise the low-grade group of astrocytomas. (medscape.com)
Features1
- The cutaneous features of tuberous sclerosis: a population study. (ijord.com)