1/18. Pulmonary involvement in Niemann-Pick disease: case report and literature review.Niemann-Pick disease (NPD) is a rare, inherited, autosomal recessive, lipid storage disease. The pathognomonic intracellular accumulation of sphingomyelin results in the production and accumulation of 'foam cells'. Interstitial lung disease is a rare manifestation of NPD. We present the case of a 48-year-old white female with NPD involving the lungs, liver and spleen. The chest radiograph showed bilateral, predominantly basal reticulonodular infiltrates and serial pulmonary function tests over a period of years showed preserved expiratory airflow and a severely decreased diffusion capacity for carbon monoxide (DLCO). In view of her visceral involvement, lack of neurological symptoms and survival into adulthood, we believe our patient represents a case of type B NPD. In this type of NPD, aside from prominent hepatosplenomegaly and sexual immaturity, significant pulmonary infiltration with 'Pick cells' has been reported. To date, no therapeutic modality has been shown to alter the natural history of this disease, which results in progressive debilitation and death. This case is unique in that it provides the longest physiological follow-up in the literature, and provides data on the natural history of pulmonary involvement in NPD.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
2/18. Sphingomyelin storage in a patient with myoclonus epilepsy as a main clinical symptom -- a varient in Niemann-Pick disease type C.A patient with myoclonus epilepsy as a main clinical symptom was histopathologically diagnosed as a generalized sphingolipidosis. It was found that both sphingomyelin and globoside I fairly increased in kidney, heart, lung and liver. While, only sphingomyelin was found to increase in cerebral gray and white matters and cerebellum, but other lipids were within the normal range. Sphingomyelin accounted for 22% of the total phospholipids especially in cerebellum. No cholesterol ester and ganglioside GM2 or asialo GM2 were in particular found in the brain. Fatty acid compositions of phospholipids, glycosphingolipids and gangliosides were found to be normal. Judging from the sphingomyelin storage not only in visceral organs but also in brain tissues, it was proposed that this disease might be a variant in Niemann-Pick disease Type C, although an enzymatic assay of sphingomyelinase still remains.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
3/18. Sea-blue histiocytosis secondary to Niemann-Pick disease type B: a case report.Sea-blue histiocytosis is a morphological finding that can be associated both with acquired conditions of increased cellular turnover and inborn errors of lipid metabolism. We report a rare case of sea-blue histiocytosis associated with a mild phenotype of Niemann-Pick disease (NPD) type B in a 44-year-old man who presented with splenomegaly and mild thrombocytopenia. diagnosis was guided by the morphological finding in bone marrow smears of foamy and sea-blue histiocytes and confirmed by the measurement of acid lysosomal sphingomyelinase activity below normal values. NPD type B is a rare inborn error of metabolism, with a benign course and prognosis, while types A and C are always associated with severe neurological involvement. In our patient diagnosis was confirmed by the specific enzyme assay of leukocytes (deficiency in sphingomyelinase activity). This is a simple and noninvasive method that is useful whenever clinical and morphological finding are relevant, and a primary hematological disorder has been ruled out.- - - - - - - - - - ranking = 157.58759623671keywords = leukocytes (Clic here for more details about this article) |
4/18. Treatment of sphingomyelinase deficiency by repeated implantations of amniotic epithelial cells.Five young patients with Niemann-Pick disease type B were treated with repeated implantations of amniotic epithelial cells, as a source of exogenous sphingomyelinase. This treatment abolished the recurrent infections, mainly of the respiratory tract, and led to other improvements of the general conditions of the patients. In particular, we noticed a disappearance of vomiting, a recovery from muscular hypotrophy, and significantly reduced pulmonary distress. In four subjects, who were in a prepuberal state, there was a puberal spurt with a concomitant burst of growth. In two cases, characterized by a greater than normal content of sphingomyelin in urinary sediments, a single implantation caused a sustained normalization of sphingomyelin and total phospholipids in the urine. Finally, sphingomyelinase activity of peripheral leukocytes, when assayed 0.5 to 4 months after some of the implantations, showed a rise to heterozygous values in 30-40% of the assays.- - - - - - - - - - ranking = 157.58759623671keywords = leukocytes (Clic here for more details about this article) |
5/18. diffusion tensor imaging in Niemann-Pick Type C disease.Niemann-Pick Type C disease is a homozygous recessive disorder resulting in errant intracellular cholesterol metabolism and the accumulation of intracellular unesterified cholesterol and sphingolipids. Although no current effective treatment exists for Niemann-Pick Type C disease, a number of therapies are under development in animal models. As therapies are brought into clinical trials, it will be extremely helpful to have a reliable means to track the progression of the disease and to monitor its response to therapy. In this effort, diffusion tensor imaging has been applied to investigate the white matter in a Niemann-Pick Type C patient, and the results compared to those from age-matched control subjects. diffusion tensor imaging enables quantitative measurement of water diffusion in white matter, which is sensitive to the architecture and integrity of the tissue. Compared with control subjects, significant reductions in fractional anisotropy values were observed in regions of white matter, most prominently in the corpus callosum. The results from this case study suggest that diffusion tensor imaging may allow progression of the disease to be quantitatively measured and may be able to play a role as a surrogate marker in clinical trials.- - - - - - - - - - ranking = 3keywords = white (Clic here for more details about this article) |
6/18. The neuropsychiatry of Niemann-Pick type C disease in adulthood.Psychotic symptoms occur in a variety of medical and neurological conditions. The authors describe three young men with a variant form of Niemann-Pick type C disease, a neurodegenerative disorder related to abnormal intracellular cholesterol metabolism, who presented with psychosis in early adulthood. Two patients were treated for schizophrenia for many years prior to a diagnosis of Niemann-Pick type C. The cases presented in this article illustrate the role of changes in both white and gray matter structures in psychosis, and, like the assessments of other neurodevelopmental disorders that predispose toward psychotic presentations, shed light on the underlying pathophysiology of major mental disorders.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
7/18. Specific enzymatic diagnosis and ultrastructural analysis of peripheral leukocytes in infantile form of Niemann-Pick sphingomyelinosis.Acute infantile type of Niemann-Pick sphingomyelin lipidosis has been published concentrating to the morphological and biochemical specific enzyme investigations. The electronmicroscopical study of the peripheral lymphocytes proved to be of diagnostic value for lysosomal lipidoses.- - - - - - - - - - ranking = 630.35038494685keywords = leukocytes (Clic here for more details about this article) |
8/18. Niemann-Pick disease type D: lipid analyses and studies on sphingomyelinases.Lipids and sphingomyelinase activity were studied in spleen, liver, and brain tissues of a 13-year-old boy with Niemann-Pick disease type D (NPD-D). The greatest lipid changes occurred in spleen; cholesterol, cholesterol esters, total phospholipids, sphingomyelin, and bis-(monoacylglyceryl)phosphate were increased above normal range. In liver, striking increases were observed in cholesterol and bis-(monoacylglyceryl)phosphate. Minor changes in neutral and acidic glycolipid patterns occurred in liver, spleen, and brain. Sphingomyelinase activity (optimal at pH 5.0) was elevated above mean control levels in liver and spleen, but not in brain, kidney, or leukocytes. Enzyme properties were generally normal. Activity of NPD-D liver crude homogenate, but not that of normal liver homogenates, was inhibited at high protein concentrations. Activity levels of a second sphingomyelinase, optimal at pH 7.4, in NPD-D brain were apparently normal. These findings are generally consistent with the classification of NPD-D as a sphingomyelin lipidosis.- - - - - - - - - - ranking = 157.58759623671keywords = leukocytes (Clic here for more details about this article) |
9/18. Niemann-Pick variant lipidosis presenting as "neonatal hepatitis".Neonatal hepatitis is a nonspecific term that may include a variety of disease entities. Two patients are presented who developed jaundice in the neonatal period and progressive hepatosplenomegaly. The infants were initially felt to have "neonatal hepatitis" but were subsequently found to have Niemann-Pick disease. Biochemical investigation revealed normal levels of sphingomyelinase activity in leukocytes and liver but diminished levels in cultured skin fibroblasts, compatible with Niemann-Pick type C.- - - - - - - - - - ranking = 157.58759623671keywords = leukocytes (Clic here for more details about this article) |
10/18. Macular halos associated with Niemann-Pick type B disease.Macular halos describe a striking clinical finding of bilaterally elevated, doughnut-shaped, white rings around th fovea. This paper presents the third well-documented report of the association of macular halos with Niemann-Pick type B disease, demonstrated by color photographs and subtle fluorescein angiographic findings. The systemic association with Niemann-Pick type B disease was confirmed by bone marrow biopsy and enzyme assay. Of 13 family members examined, only the proposita had macular halos; 10 were found to be carriers by sphingomyelinase assay. Recognition of this pathognomonic eye finding warrants more widespread awareness as a presenting sign of Niemann-Pick type B disease.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
| | Next -> |