1/82. Invasive giant cell astrocytoma of the retina in a patient with tuberous sclerosis.OBJECTIVE: To report an unusual case of giant cell astrocytoma of the retina. DESIGN: Case report. INTERVENTION: A 10-month-old girl with tuberous sclerosis was found to have bilateral astrocytic hamartomas, the right eye being prominently involved by elevated and pedunculated lesions. At 7 years of age, she had posterior subcapsular cataract, retinal detachment, and subretinal exudation develop in the right eye. At 12 years of age, her blind, painful right eye had to be enucleated because of neovascular glaucoma and a spontaneous scleral perforation. RESULTS: Histopathologic examination showed that the entire vitreous cavity was filled with a mixture of tumor, granulation tissue, and necrotic debris. Part of the tumor was composed of spindle-shaped glial cells. The remainder was composed of large gemistocytic cells that contained large atypical nuclei and copious amounts of cytoplasm, which was intensely eosinophilic in some areas. The tumor contained foci of necrosis and rare mitotic figures. It had infiltrated the parenchyma of the retrolaminar nerve and extended to the surgical margin. Areas of unequivocal choroidal invasion were also identified. The tumor cells were intensely immunoreactive for neuron-specific enolase and S-100 protein. In contrast, glial fibrillary acidic protein was only minimally positive. CONCLUSIONS: The histologic and immunohistochemical features of this retinal tumor resemble those of subependymal giant cell astrocytoma, a characteristic lesion in tuberous sclerosis. Although this unusual giant cell astrocytoma of the retina had atypical histopathologic features and local aggressive behavior, the systemic prognosis was excellent.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
2/82. Does the tuberous sclerosis complex include intracranial aneurysms? A case report with a review of the literature.BACKGROUND: tuberous sclerosis is a protean, genetically determined disease that may involve any organ or tissue and lead to a great number of symptoms and clinical features. OBJECTIVE: diagnosis can be very difficult in cases with incomplete manifestations (formes fruste) lacking the classic signs of the disease. MATERIALS AND methods: We report a case fulfilling the diagnostic criteria for tuberous sclerosis (shagreen patches, hypomelanotic macules, renal cysts and angiomyolipomas, and "migration tracts" in the cerebral white matter) in association with a giant intracranial aneurysm, but lacking mental retardation, epilepsy and facial angiofibroma. RESULTS: Fourteen other cases of tuberous sclerosis and intracranial aneurysms, all but one without any clear sign of polycystic kidney disease, were found in the literature. CONCLUSION: We suggest that vascular dysplasias in general and aneurysms (mainly intracranial) in particular can be added to the other non-primary diagnostic features for the clinical diagnosis of tuberous sclerosis.- - - - - - - - - - ranking = 0.14285714285714keywords = giant (Clic here for more details about this article) |
3/82. Giant cell angiofibroma of the eyelids: an unusual presentation of tuberous sclerosis.The authors describe a patient with a history of mental retardation and seizures who presented with unusually large edematous, pedunculated eyelid lesions of unknown etiology. The histopathology revealed features consistent with giant cell angiofibroma, a variant of the angiofibromas commonly seen in tuberous sclerosis.- - - - - - - - - - ranking = 0.14285714285714keywords = giant (Clic here for more details about this article) |
4/82. Sudden unexpected death associated with HHV-6 in an adolescent with tuberous sclerosis.A 14-year-old female with tuberous sclerosis and history of seizures was found dead in bed at home 3 days after she had been assessed as doing well at a routine neurology clinic appointment. She had been treated with an antiepileptic drug, felbamate, for 36 months and had been seizure-free except for one seizure episode 5 months before death. Postmortem examination revealed cerebral edema, with uncal and tonsillar herniation, and pulmonary edema, consistent with seizure-induced apnea. Multiple microglial nodules with mature perivascular lymphocytic cuffing and diffuse infiltrates were identified around subependymal tuberous sclerosis giant cell nodules. Immunostaining and electron microscopy revealed human herpesvirus-6-infected macrophages, astrocytes, lymphocytes, and endothelial cells in the subependymal tuberous sclerosis lesions and choroid plexus. Subacute human herpesvirus-6 encephalitis is postulated to have precipitated a seizure and thus sudden unexpected death in epilepsy in this otherwise stable adolescent patient.- - - - - - - - - - ranking = 0.14285714285714keywords = giant (Clic here for more details about this article) |
5/82. Arteriovenous shunting in a giant renal angiomyolipoma. A rare condition.We report a case of a 33-year-old woman with tuberous sclerosis and bilateral angiomyolipomas. She suffered from acute left flank pain due to retroperitoneal haemorrhage. During renal arteriography an arteriovenous shunting was found in the left tumour. angiomyolipoma is a rare cause of angiographically demonstrable arteriovenous shunting.- - - - - - - - - - ranking = 0.57142857142857keywords = giant (Clic here for more details about this article) |
6/82. Solitary subependymal giant cell astrocytoma: case report.In this report, we describe a case of subependymal giant cell astrocytoma in a patient lacking clinical symptoms of tuberous sclerosis. The absence of any features of tuberous sclerosis initially dissuaded us from including subependymal giant cell astrocytoma in our differential diagnosis.- - - - - - - - - - ranking = 0.85714285714286keywords = giant (Clic here for more details about this article) |
7/82. Giant angiomyolipoma associated with marked pulmonary lesions suggesting lymphangioleiomyomatosis in a patient with tuberous sclerosis.The association between tuberous sclerosis (TS) and angiomyolipoma (AML) is well known. A patient with TS and giant AML mimicking Renal Cell carcinoma (RCC), measuring 29 x 18 x 11 cm, weighing 4700 gr is presented. Imaging studies revealed coexistent pulmonary lymphangioleiomyomatosis and concurrent renal and pulmonary involvement is extremely rare in patients in TS. We believe that the growth potential of this hamartomatous lesion may reach to a life threatening size.- - - - - - - - - - ranking = 0.14285714285714keywords = giant (Clic here for more details about this article) |
8/82. Subependymal giant cell astrocytoma: clinical and neuroimaging features of four cases.The clinical history, neuroimaging features, treatments, and outcome of 4 patients with histologically verified subependymal giant cell astrocytomas (SEGA) were retrospectively reviewed. The average age at the time of surgery was 13.3 years. headache related to raised intracranial pressure was the first and only sign in 2 patients, with the remaining 2 being admitted because of sequential neuroimaging studies over several years revealing the growth of 'subependymal nodules' into intraventricular tumours. In each case the tumour was in the region of Monro's foramen and was associated with ventricular dilatation. On computed tomography (CT), multiple subependymal nodules were found in 3 patients, and these well circumscribed isodense SEGAs were markedly enhanced by contrast medium. On magnetic resonance imaging (MRI), which was obtained in 3 patients, 2 SEGAs were isointense with the cerebral cortex and one with the white matter on T1-weighted images, and on T2-weighted images, 2 were isointense with the cortex and one with the white matter. At surgery the tumours appeared to originate from the inferolateral wall of the lateral ventricle in the region of the head of the caudate nuclei. Total macroscopic removal was achieved in 3 patients, and subtotal removal in one patient. Follow up ranged from 4.6 to 13.2 years, and all patients have exhibited similar physical and mental conditions to preoperative. So far there has been no evidence of any recurrences. The diagnosis and the surgical indications for SEGA are discussed, with periodic monitoring with neuroimaging studies being recommended even for asymptomatic patients with 'subependymal nodules'.- - - - - - - - - - ranking = 0.71428571428571keywords = giant (Clic here for more details about this article) |
9/82. Subependymal giant-cell astrocytoma in tuberous sclerosis: endoscopic images and the implications for therapy.Supratentorial intraventricular tumors are not frequently encountered in childhood. One of the most frequent intraventricular glial tumors is the subependymal giant-cell astrocytoma, mostly associated with tuberous sclerosis. These tumors are diagnosed on computed tomography (CT) or magnetic resonance imaging (MRI) scans. They can occur isolated or multiple and operative resection is advised if these tumors cause symptoms, usually raised intracranial pressure due to obstructive hydrocephalus. However, the number of tumors can be much higher than seen on radiological examination making total resection of all tumors impossible. We demonstrate this with the endoscopic images derived during the endoscopic removal of a subependymal giant-cell astrocytoma obstructing a foramen of Monro in a 15-year-old boy with tuberous sclerosis.- - - - - - - - - - ranking = 0.85714285714286keywords = giant (Clic here for more details about this article) |
10/82. Neuropathology of tuberous sclerosis.In the cerebrum of patients with tuberous sclerosis (TSC), there are three types of nodular lesions: cortical tubers, subcortical heterotopic nodules and subependymal giant cell astrocytomas. Histologically, these hamartias and hamartomas contain abnormal giant cells that show evidence of abnormal differentiation of immature neural cells. Recent identification of the TSC1 and TSC2 genes has facilitated studies of the molecular pathology of TSC. The expression of their protein products, hamartin and tuberin, is altered in various TSC lesions. However, the molecular mechanism by which cortical tubers develop remains to be elucidated. The Eker rat, a naturally occurring animal model of TSC, will provide a powerful tool for future investigations of TSC.- - - - - - - - - - ranking = 0.28571428571429keywords = giant (Clic here for more details about this article) |
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