Cases reported "Tuberous Sclerosis"

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1/100. angiomyolipoma: diagnosis and treatment.

    Four cases of renal angiomyolipoma are presented, 3 of which were diagnosed in non-tuberous sclerosis patients. In 1 case diagnosis was made preoperatively and in another case it was made intraoperatively, allowing for preservation of functioning renal parenchyma. The second successful kidney transplant in a patient with tuberous sclerosis and renal failure is reported. One cannot always differentiate renal angiomyolipomas from adenocarcinoma. However, if the classical angiographic findings of sacculated pseduo-aneurysms supplied by the interlobular and interlobar arteries are present non-operative observation or limited surgery with preservation of renal tissue is possible. Also, knowledge of the gross pathologic appearance and the syndrome of tuberous sclerosis will allow one to make a preoperative or intraoperative diagnosis with confidence.
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ranking = 1
keywords = kidney
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2/100. Polycystic kidney disease in tuberous sclerosis complex: case report.

    tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder characterised by seizures, mental retardation, cutaneous lesions and visceral harmatoma. We describe a 4 1/2-year old boy in whom in addition to the commonly described features of TSC, adult-type polycystic kidneys, a scantily reported occurrence, was an associated feature.
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ranking = 106.41552565353
keywords = kidney disease, kidney
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3/100. Renal cell carcinoma in children with diffuse cystic hyperplasia of the kidneys.

    We report the clinical, pathologic, and genetic features of renal malignancy in two children with diffuse cystic hyperplasia. Both presented with massive bilateral nephromegaly. Neither had a family history or clinical findings suggestive of tuberous sclerosis or von hippel-lindau disease. The kidneys of both children were extensively replaced by tubulocystic hyperplasia with large eosinophilic epithelial cells. The masses of hyperplastic tissue were nodular, compressing remnants of uninvolved renal parenchyma. Tubulopapillary carcinoma was present in both children, one of whom had bilateral multicentric carcinoma. No loss of heterozygosity was detected in the tumors at the TSC1, TSC2, or VHL gene regions, and no alterations in the VHL gene were detected using single-strand conformation polymorphism analysis. These cases of bilateral renal enlargement with diffuse cystic hyperplasia appear to represent a new clinical syndrome that may warrant bilateral nephrectomy because of the risk of malignancy.
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keywords = kidney
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4/100. 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.
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ranking = 26.353881413383
keywords = kidney disease, kidney
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5/100. tuberous sclerosis associated with multiple hepatic lipomatous tumors and hemorrhagic renal angiomyolipoma.

    We report a case of tuberous sclerosis associated with hepatic lipomatous tumors and renal angiomyolipomas. Abdominal ultrasonography revealed a high echoic large tumor in the left kidney. A provisional diagnosis of angiomyolipomas of the kidney was made based on computed tomography. Subsequent laparotomy revealed that the extracted tumor was renal angiomyolipoma. It was also revealed that there was an association with hepatic lipomatous tumors thought to be lipomas or angiomyolipomas by liver biopsy. Nearly half of all cases of angiomyolipoma in the kidney are reported as occasional association with tuberous sclerosis complex, but lipomatous tumors in the liver are rare.
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ranking = 3
keywords = kidney
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6/100. A breathless lady with lumpy kidneys.

    tuberous sclerosis complex (TSC) is now known to be associated with pulmonary lymphangiomyomatosis (PLAM). patients with either isolated PLAM or pulmonary involvement in TSC suffer from progressive respiratory failure and death within ten years of diagnosis. We report a case of TSC with PLAM, and a short review of recent literature regarding the conditions.
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ranking = 4
keywords = kidney
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7/100. Lymphangiectasia within angiomyolipoma in a tuberous sclerosis patient.

    This is a presentation of a case of tuberous sclerosis with multifocal hamartomas in the retroperitoneum, both kidneys, and the liver. Lymphangiectasia and numerous ectatic lymphatic channels penetrating through the retroperitoneal angiomyolipoma were demonstrated by lymphography and computed tomography. The findings in our study may document the presence of degenerative change in the lymphatic system--not just in elastic vessels--an association which has not yet been reported in the radiological literature.
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ranking = 1
keywords = kidney
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8/100. An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito.

    We report on a familial submicroscopic translocation involving chromosomes 8 and 16. The proband of the family had a clinical picture suggestive of a large deletion in the chromosome 16p13.3 area, as he was affected with tuberous sclerosis complex (TSC) and had alpha thalassaemia trait, and his half brother, who also had TSC, may have suffered additionally from polycystic kidney disease (PKD). FISH studies provided evidence for a familial translocation t(8;16)(q24.3;p13.3) with an unbalanced form in the proband and a balanced form in the father and in a paternal aunt. The unbalanced translocation caused the index patient to be deleted for the chromosome 16p13.3-pter region, with the most proximal breakpoint described to date for terminal 16p deletions. In addition, FISH analysis showed a duplication for the distal 8q region. Since the index patient also had hypomelanosis of Ito (HI), either of the chromosomal areas involved in the translocation may be a candidate region for an HI determining gene. Furthermore, it is noteworthy that both carriers of the balanced translocation showed a nodular goitre, while the proband has hypothyroidism.
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ranking = 131.76940706691
keywords = kidney disease, kidney
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9/100. Various radiological appearances of angiomyolipomas in the same kidney.

    A 21-year-old woman with tuberous sclerosis presented with abdominal distension and flank pain. Imaging studies, including CT and MR imaging, revealed bilateral renal mass lesions, containing fat and suggesting the diagnosis of tuberous sclerosis. However the imaging characteristics of one of these lesions differed from the others with no radiologically detectable fat tissue in this solid lesion suggesting renal cell carcinoma. Histopathological examination of this lesion in the left kidney revealed an angiomyolipoma within minimal fat tissue. The radiological diagnosis of angiomyolipomas with minimal fat tissue remains difficult and the differential diagnosis is discussed.
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ranking = 5
keywords = kidney
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10/100. hamartoma and renal transplant implications.

    A 19-year-old woman with tuberous sclerosis, bilateral renal hamartomas and polycystic kidneys required separate nephrectomies for severe hemorrhages 6 months apart. The case is presented, the diagnoses of the disease in relation to a negative family history are considered and the importance of early diagnosis in a potential transplant recipient and the use of leukocyte-free transufusions are discussed.
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ranking = 1
keywords = kidney
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