1/20. A neurodegenerative disorder with early myoclonic encephalopathy, retinal pigmentary degeneration and nephronophthisis.A female case of developmental arrest, early-onset seizures, retinal pigmentary degeneration, progressive central nervous symptoms and peripheral neuropathy, associated with progressive renal dysfunction, anemia and nephrotic syndrome, was presented. Her epileptic syndrome was possibly an early myoclonic encephalopathy, though neonatal seizures were not evident. Serial cranial MRIs showed progressive brain atrophy and a white matter change. Neuropathological examination revealed a neurodegenerative disease mainly involving the white matter with olivopontocerebellar degeneration. She also had the nephronophthisis-medullary cystic disease complex and an early stage of focal segmental glomerulosclerosis. Her grandaunts had renal diseases, one of whom died of renal failure in adolescence, and her father showed cerebellar symptoms since the middle age. All possible metabolic studies were negative. This case is similar to Senior-Loken syndrome, but distinct in terms of the severe and progressive neurological symptoms, suggestive of a new malignant syndrome with some inherent metabolic derangement affecting both the nervous system and the kidneys.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
2/20. Renal cystic disease associated with tuberous sclerosis complex: renal failure treated by cadaveric kidney transplantation.Chronic renal failure in patients with tuberous sclerosis may be secondary to diffuse cystic disease, a lesion less common than the better known hamartomatous angiomyolipomas. uremia, in the case of a nineteen-year old female with end-stage renal disease, was associated with severely atrophic kidneys that contained numerous collapsed and scarred cysts. No hamartomas were present. The patient survived for more than three years following cadaveric renal transplantation.- - - - - - - - - - ranking = 5keywords = sclerosis (Clic here for more details about this article) |
3/20. A rare co-existence of focal xanthogranulomatous pyelonepheritis, angiomyolipoma and renal cysts simulating renal cell carcinoma.A 70-year-old male presented with left flank pain and history of gross, total painless haematuria of 6 months duration. Investigations revealed a large solid and cystic mass suggestive of renal cell carcinoma in left kidney with possible infiltration of left psoas muscle. histology of radical nephrectomy showed angiomyolipoma with multiple cysts lined by columnar epithelium suggestive of tuberous sclerosis and focal area of xanthogranulomatous pyelonepheritis. The rare combination of such lesions leading to diagnostic dilemma has not been reported in medical literature to the best of our knowledge.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
4/20. A patient with TSC1 germline mutation whose clinical phenotype was limited to lymphangioleiomyomatosis.BACKGROUND: lymphangioleiomyomatosis (LAM) can occur as in isolated form (sporadic LAM) or as a pulmonary manifestation of tuberous sclerosis complex (TSC) (TSC-associated LAM). Recent studies, however, revealed that both forms of LAM are genetically related but that sporadic LAM is a distinct clinical entity caused by somatic mutations of TSC2 (not TSC1) rather than a forme fruste of TSC carrying either of the TSC1 or TSC2 germline mutations. METHOD: Case presentation and in-depth molecular and histopathological examinations. A 34-year-old Japanese woman was diagnosed as having pulmonary lymphangioleiomyomatosis (LAM) when bilateral pneumothoraces were surgically treated in 1992. Although slowly progressive renal disfunction was observed due to bilateral multiple renal cysts during the past 4 years, she had no other clinical features of TSC and was diagnosed as having sporadic LAM with multiple renal cysts of undetermined aetiology. Her subsequent clinical course was complicated by an endobrochial carcinoid tumour, which eventually resulted in her death in June 1999 due to massive haemoptysis. RESULTS: Postmortem examination revealed the presence of LAM lesions in the lungs, mediastinal lymph nodes, kidneys and uterus. Diffuse renal LAM lesions are presumed to generate multiple renal cysts by constricting the nephron rather than epithelial hyperplasia obstructing lumina, which is analysis of the TSC genes demonstrated that she did not have TSC2/PKD1 contiguous gene syndrome but had a TSC1 germline mutation (Sato T et al. J Hum Genet 2002; 47: 20-8) that had occured de novo. CONCLUSION: This patient therefore illustrates that clinical manifestations of TSC are sufficiently diverse as to allow a forme fruste of TSC that mimics sporadic LAM and that TSC1 mutation can cause multiple renal cysts resulting in renal failure.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
5/20. Diffuse bilateral glomerulocystic disease of the kidneys and multiple cardiac rhabdomyomas in a newborn. Relationship with tuberous sclerosis and review of the literature.A case of glomerulocystic disease of the kidneys in a newborn is described. The kidneys were very large and diffusely cystic. Histologically, all portions of the nephron were involved and some of the cysts were lined by a prominent hyperplastic eosinophilic epithelium. This, together with the presence of numerous cardiac rhabdomyomas, a nodular haemangiomatous harmartoma and histiocytoid cell nests in the spleen were strongly suggestive of tuberous sclerosis. The relation between glomerulocystic kidney disease and tuberous sclerosis is discussed.- - - - - - - - - - ranking = 6keywords = sclerosis (Clic here for more details about this article) |
6/20. Isolated unilateral tuberous sclerosis-associated renal cystic disease in a neonate.We present a male infant with antenatally detected, focal, unilateral apparently isolated renal cystic disease with morphological features of renal involvement in tuberous sclerosis. Only one previous case with similar presentation has been described. Most affected children present with either diffuse bilateral renal cystic disease or extrarenal manifestations. The major genes involved in tuberous sclerosis are now well described, and early onset of severe renal cystic disease in affected children often is related to the presence of a contiguous gene deletion syndrome involving TSC2 and PKD1 on chromosome 16.- - - - - - - - - - ranking = 6keywords = sclerosis (Clic here for more details about this article) |
7/20. angiomyolipoma with epithelial cysts (AMLEC): a distinct cystic variant of angiomyolipoma.Renal angiomyolipoma (AML) is typically a solid lesion, composed of varying amounts of adipose, vascular, and muscular tissue, lacking an epithelial component. Although it is known that entrapped renal tubules may be observed in AML, presentation as a cystic mass has not been previously reported. We report the clinicopathologic and immunohistochemical features of four cystic renal AML. The lesions were found in 2 male and 2 female patients, ranging in age from 37 to 76 years, none with a history of hormonal therapy. One of the four patients had known tuberous sclerosis, and this patient and 1 other presented with bilateral cystic renal lesions. Grossly, the lesions measured between 1.3 and 4.5 cm in greatest dimension. Histologically, the lesions were each composed of three components: 1) epithelial cysts lined by cuboidal to hobnail cells; 2) a compact subepithelial "cambium-like" layer of cellular, mullerian-like AML stroma with prominent admixed chronic inflammation; and 3) muscle-predominant AML with associated dysmorphic blood vessels exterior to the cellular subepithelial stroma. Immunohistochemically, the stromal components of all four lesions labeled with HMB-45 and Melan-A, most intensely in the cellular subepithelial stroma, whereas smooth muscle actin and desmin demonstrated the opposite pattern, with greatest intensity in the muscle-predominant AML areas. Immunoreactivity for estrogen and progesterone receptors (ER, PR) and CD10 was present in all cases, with strongest and most diffuse staining in the subepithelial AML cells. The cyst lining cells were positive for pancytokeratin and soy bean agglutinin (the latter characteristic of distal nephron epithelium) but did not label for ER, PR, or melanocytic markers. Although these distinctive lesions may be confused with mixed epithelial-stromal tumor, their lack of female predominance or association with hormone therapy, their distinctive dysplastic blood vessels and disorganized exterior muscular layer, along with their immunohistochemical profile, support their classification as AML with epithelial cysts. Whereas the cysts appear to arise primarily from entrapped collecting ducts, the peculiar subepithelial condensation of AML stromal cells, with morphologic and immunohistochemical features suggesting differentiation toward endometrial stroma, may represent epithelial-induced mullerian differentiation not previously reported in AML.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
8/20. Renal angiolipomas combined with renal cystic disease in tuberous sclerosis.A 19-year-old white man presented with tuberous sclerosis. ultrasonography revealed enlarged kidneys with multiple echogenic and echo-free areas due to angiomyolipomas and cysts, respectively. This echographic appearance is extremely seldom, and it is thought to be specific for tuberous sclerosis. The literature is reviewed and problems of diagnosis and therapy are discussed.- - - - - - - - - - ranking = 6keywords = sclerosis (Clic here for more details about this article) |
9/20. Atypical cysts and carcinomas of the kidneys in the phacomatoses. A quantitative dna study using static and flow cytometry.Reported are the pathologic features of atypical cysts and/or renal cell carcinomas found in the kidneys of four patients having either tuberous sclerosis or Hippel-Lindau disease. In addition, cellular dna contents of the cells lining the atypical cysts and comprising the carcinomas were quantitated using both static and flow cytometric techniques. These studies showed that cysts lined by atypical epithelial cells are frequently present in renal parenchyma adjacent to the renal carcinomas, and that the cytologic features of atypical cells lining the cysts were essentially the same as the cytologic features found in the adjacent well-differentiated, renal cell carcinomas. dna quantitative studies revealed that both the renal cell carcinomas and the atypical cyst lining cells had the same dna indices and were essentially dna euploid. In this patient group these findings are consistent with the hypothesis that the atypical cyst lining cells evolve into the renal cell carcinomas; however, they do not prove this proposed but likely sequence.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
10/20. The renal lesions of tuberous sclerosis.Renal involvement in the tuberous sclerosis complex includes angiomyolipomas, cysts, and carcinomas. Angiomyolipomas, despite a sometimes frightening histopathologic appearance, are benign. Cystic disease, apparently resulting from tubular epithelial hyperplasia, causes hypertension and renal insufficiency, progressing to end-stage renal disease. The same epithelial hyperplasia predisposes to renal carcinoma.- - - - - - - - - - ranking = 5keywords = sclerosis (Clic here for more details about this article) |
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