1/123. 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.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
2/123. persistent hyperplastic primary vitreous with retinal tumor in tuberous sclerosis: report of a case including tumoral immunohistochemistry and cytogenetic analyses.OBJECTIVE: The authors describe an ocular lesion combining the characteristics of persistent hyperplastic primary vitreous (PHPV) and a retinal tumor in an infant with tuberous sclerosis complex (TSC). STUDY DESIGN: Case report. methods: immunohistochemistry and cytogenetic studies were performed on TSC cells from an intraocular tumor in a 6-week-old infant. RESULTS: Histopathologic examination showed a thick fibrovascular membrane between the aspect of the lens and the astrocytic component of the mass. glial fibrillary acidic protein (GFAP) showed a variable intracytoplasmic reaction in the astrocytic proliferation, involving approximately 50% of the cells. Tissue culture studies showed a fairly rapid proliferation of fusiform cells, consistent with bipolar astrocytic cells. Cytogenetic studies showed one abnormal clone consisting of three hyperdiploid cells with a loss of chromosome 9 and a gain of chromosomes 6 and 12. CONCLUSION: The atypical localization of the retinal tumor could be explained by the fact that it was trapped during its proliferation by the retinal detachment associated with the PHPV.- - - - - - - - - - ranking = 0.2keywords = complex (Clic here for more details about this article) |
3/123. 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 = 0.8keywords = complex (Clic here for more details about this article) |
4/123. Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood.A 12-year-old boy with tuberous sclerosis complex (TSC) presented with a large retroperitoneal tumour. Exploratory surgery revealed an infiltrative tumour originating from the pancreas, with local metastases to the lymph nodes. The histologal diagnosis was a malignant islet cell tumour. Retrospectively measured pancreatic hormone levels, however, were normal. A connection between the malignancy and TSC was demonstrated by loss of heterozygosity of the TSC2 gene in the tumour. The primary mutation Q478X in this patient was identified in exon 13 of the TSC2 gene on chromosome 16. CONCLUSION: Pancreatic islet cell tumours have been mainly associated with multiple endocrine neoplasia syndrome type 1. In our case we demonstrate a direct relationship of this tumour to tuberous sclerosis complex, in the absence of further signs of multiple endocrine neoplasia syndrome type 1.- - - - - - - - - - ranking = 1.2keywords = complex (Clic here for more details about this article) |
5/123. 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.- - - - - - - - - - ranking = 0.2keywords = complex (Clic here for more details about this article) |
6/123. 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.- - - - - - - - - - ranking = 0.2keywords = complex (Clic here for more details about this article) |
7/123. Infantile tuberous sclerosis changes in the brain: proton MR spectroscopy findings.A parietal hamartoma of a three-month-old boy with tuberous sclerosis was studied with magnetic resonance (MR) imaging, and proton MR spectroscopy. MR spectra were obtained with the single-voxel PRESS (point resolved spectroscopy; TR = 1500 ms, TE = 135 ms) sequence, in a 8 cc region of interest. Apparently low NAA/Cho (0.28), and NAA/Cr (0.37) ratios were noted in the hamartoma, that could suggest a neoplasm. The lesion and the surrounding brain tissue were studied again after seven months with spectroscopic imaging using the chemical shift sequence (TR = 1500 ms. TE = 40 ms). This study revealed apparently improved NAA/Cho (2.63), NAA/Cr (2.13) ratios in the hamartoma compared to the initial examination at three months of age, excluding the possibility of a neoplasm.- - - - - - - - - - ranking = 0.01174322220121keywords = neoplasm (Clic here for more details about this article) |
8/123. 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.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
9/123. Hamartomas of the iris and ciliary epithelium in tuberous sclerosis complex.Astrocytic hamartomas of the retina are the principal ocular manifestation of tuberous sclerosis complex. iris abnormalities are rare in tuberous sclerosis complex and include focal areas of stromal depigmentation and atypical colobomata. We describe 2 patients who were found on histopathological examination to have lesions consistent with hamartomas of the iris pigment epithelium and ciliary body epithelium. iris abnormalities, including pupillary irregularities, were noted on clinical examination prior to the development of iris neovascularization in both patients. These observations suggest that iris abnormalities, including atypical colobomas, may be caused by hamartomas of the iris pigment epithelium and ciliary epithelium in some patients with tuberous sclerosis complex. To our knowledge, hamartomas of tissues derived from the anterior part of the neuroectodermal optic cup have not been reported in cases of tuberous sclerosis complex.- - - - - - - - - - ranking = 1.6keywords = complex (Clic here for more details about this article) |
10/123. Pulmonary lymphangioleiomyomatosis in a man.Pulmonary lymphangioleiomyomatosis (LAM) is an uncommon disease reported to occur exclusively in women. We describe a phenotypically normal man with pulmonary LAM. fluorescence in situ hybridization (FISH) studies performed on the lung biopsy confirmed a normal XY genotype. Our patient also had stigmata of tuberous sclerosis complex (TSC), including facial angiofibromas and renal angiomyolipoma. Immunohistochemical stains of both LAM and renal angiomyolipoma showed positive immunoreactivity for hamartin (TSC1) and loss of immunoreactivity for tuberin (TSC2). loss of heterozygosity (LOH) for TSC2 was further demonstrated in the renal angiomyolipoma. Coupled with the results of immunostains, these findings are consistent with TSC2 mutation.- - - - - - - - - - ranking = 0.2keywords = complex (Clic here for more details about this article) |
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