1/62. 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 = nerve (Clic here for more details about this article) |
2/62. 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 = 23.719130586796keywords = organ (Clic here for more details about this article) |
3/62. Giant abdominopelvic epithelioid angiomyolipoma associated with tuberous sclerosis: report of a case.tuberous sclerosis is a hereditary autosomal-dominant disease characterized by hamartomas that can develop in any organ. We report herein the case of a 34-year-old female with tuberous sclerosis and a huge abdominopelvic mass that started growing quickly 2 years after its diagnosis. The patient had undergone several previous operations for hydrocephalus and cerebral tubers, and a nephrectomy for right renal angiomyolipoma. On admission, she was in poor general health with renal failure, severe anemia, and weight loss. A laparotomy revealed that the tumor occupied the pelvis, the lower and part of the upper abdomen, and was hypervascularized, with an extremely irregular surface covered in nodules, vegetations, and areas of hemorrhagic necrosis. The development of the mass and the impossibility of recognizing the internal genital organs led us to assume that the formation had originated from these. Frozen-section examination indicated an undifferentiated tumor that had not been completely resected. Her postoperative course was complicated by bronchopneumonia and progressive renal failure. The patient died 10 days after surgery due to cardiorespiratory failure. A histological diagnosis of epithelioid angiomyolipoma was confirmed. Although it is presently impossible to determine whether angiomyolipoma with predominant epithelioid cells is more aggressive than typical angiomyolipoma, it definitively demonstrated local aggressive behavior in this patient.- - - - - - - - - - ranking = 47.438261173591keywords = organ (Clic here for more details about this article) |
4/62. Hamartomatous gastric polyposis in a patient with tuberous sclerosis.A 42-year-old female diagnosed with tuberous sclerosis was found to have multiple polyps in the fundus of stomach. On histologic examination, the lesions were hamartomatous polyps. In tuberous sclerosis, many lesions occur in multiple organs and there are several reports about the frequent association of hamartomatous polyps of the colon. However, gastric manifestation of tuberous sclerosis has not been established probably due to its asymptomatic nature. This is the first report of multiple gastric hamartomatous polyposis in patient with tuberous sclerosis.- - - - - - - - - - ranking = 23.719130586796keywords = organ (Clic here for more details about this article) |
5/62. MRI spectrum of cortical malformations in tuberous sclerosis complex.The diagnostic and prognostic value of magnetic resonance imaging in the tuberous sclerosis complex has increasingly been recognized. In this paper, we review the presumed pathogenesis of the cerebral dysgenesis seen in this condition in the light of magnetic resonance imaging features of selected patients. In addition to typical findings related to tubers, we show and discuss varied cortical malformations (from simple localized cortical dysplasia to transmantle dysplasia and schizencephaly) similar to those seen in sporadic cerebral dysgenesis. These cases support the hypothesis that the tuberous sclerosis complex focally affects the radial glial-neuronal complex as a basic unit for brain development. Abnormal stem cells would create dysplastic glia and neurons that fail to differentiate, proliferate, migrate and form a normally organized cortex.- - - - - - - - - - ranking = 23.719130586796keywords = organ (Clic here for more details about this article) |
6/62. Secondary parathyroid hyperplasia in tuberous sclerosis: report of a case with large eosinophilic ganglion-like cells similar to those of subependymal giant cell astrocytoma, tubers, and atypical angiomyolipoma.We report a case of secondary parathyroid hyperplasia in a 49-year-old man with tuberous sclerosis. Two parathyroid glands had collections of large, eosinophilic ganglion-like endocrine cells that to our knowledge have not been previously described at this site. These cells are morphologically similar to those of subependymal giant cell astrocytoma, tubers, and atypical angiomyolipoma, all of which may arise in the setting of tuberous sclerosis. These large, eosinophilic ganglion-like cells found in different affected organs appear to be distinctive of tuberous sclerosis. We suggest these large eosinophilic cells arise from a common stem cell precursor that acquires variable phenotypes according to alterations in the cellular microenvironment.- - - - - - - - - - ranking = 23.719130586796keywords = organ (Clic here for more details about this article) |
7/62. Use of CO2 laser in the treatment of periungual fibromas associated with tuberous sclerosis.BACKGROUND: tuberous sclerosis complex is an autosomal dominant disorder with variable clinical expression. In severe forms it may involve almost any organ system. Periungual fibromas are a common cutaneous manifestation and a frequent source of cosmetic and functional concern. Current treatment involves surgical excision of the lesions. OBJECTIVE: To evaluate laser vaporization of periungual fibromas and to compare results to the standard surgical treatment. methods: A patient with tuberous sclerosis and recurrent periungual fibromas was treated with a continuous wave CO2 laser in sequential focused and defocused modes at 10-15 W. RESULTS: Laser treatment required approximately 10 seconds per lesion and produced no intraoperative bleeding. The wounds healed well with good cosmetic results. CONCLUSION: Though similar to conventional surgery in terms of cosmetic satisfaction, CO2 laser presents a viable alternative to surgery through significantly reduced treatment time and amount of bleeding.- - - - - - - - - - ranking = 23.719130586796keywords = organ (Clic here for more details about this article) |
8/62. Guglielmi detachable coil embolization of a giant midbasilar aneurysm in a 19-month-old patient.We present the case of a 19-month-old patient with tuberous sclerosis who developed a giant aneurysm of the midbasilar artery. Multiple Guglielmi detachable coils were used to fill and occlude the aneurysm and the involved segment of the basilar artery. After the procedure, the child had transient peripheral fifth cranial nerve palsy and no permanent neurologic deficits.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
9/62. An unusual tuberous sclerosis case presenting with fibrillary astrocytoma.tuberous sclerosis (TS) is an autosomal dominant disorder. It is characterized by hamartomatous lesions in various organs such as the brain, skin, kidneys and heart. Subependymal and parenchymal nodules occur in the cerebrum. Although giant cell astrocytoma may develop from these subependymal nodules, tumor formation is very rare in the cortical nodules. We present the clinical, computed tomography and magnetic resonance imaging findings of a fibrillary astrocytoma originating from a cortical tuber in a 4-year-old female with TS.- - - - - - - - - - ranking = 23.719130586796keywords = organ (Clic here for more details about this article) |
10/62. tuberous sclerosis in a 19-week fetus: immunohistochemical and molecular study of hamartin and tuberin.tuberous sclerosis complex (TSC) is a genetically heterogeneous disease caused by mutations of TSC1 or TSC2 genes. It involves multiple organ systems resulting in mild to lethal hamartoma formation due to gene mutation in the germ line and loss of heterozygosity (LOH) in somatic cells. Hamartin (TSC1) and tuberin (TSC2) are expressed broadly. However, little is known about tissue susceptibility to hamartomas when equal or similar amounts of TSC gene expression are present. In this study, we present a 19-week gestational age fetus with pathological features of TSC, which was confirmed by finding LOH of TSC2 in a cardiac rhabdomyoma. Developmental expression of hamartin and tuberin in the TSC fetus, an age-matched non-TSC fetus, and a 26-week gestational age non-TSC fetus were analyzed by immunohistochemistry. We found that in addition to the differential expression of the TSC genes in some normal tissues compared with that in the TSC-affected fetus, the cellular localization and distribution of hamartin and tuberin were dramatically different in different tissues. In general, hamartin and tuberin are mainly expressed in epithelial cells, myocytes, and neural tissues. By comparing the incidence of the hamartomas in early childhood and gene expression in tissues, it appears that tissues with co-expression of hamartin and tuberin are prone to a higher incidence of hamartomas than those expressing only one protein, or two proteins but in different patterns of cellular localization.- - - - - - - - - - ranking = 23.719130586796keywords = organ (Clic here for more details about this article) |
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