1/47. Clinical, pathologic, and neurochemical studies of an unusual case of neuronal storage disease with lamellar cytoplasmic inclusions: a new genetic disorder?A child of first-cousin Puerto Rican parents had global developmental delay, failure to thrive, and hypotonia since early infancy. At 1 1/2 years of age, she developed clinical and electrophysiologic evidence of progressive motor and sensory neuropathy. At 2 1/2 years, she developed visual impairment and optic atrophy followed by gradual involvement of the 7th, 9th, 10th, and 12th cranial nerves. Uncontrollable myoclonic seizures began at 4 years and she died at 6 years of age. Motor nerve conduction velocities were initially normal and later became markedly slowed. Sensory distal latency responses were absent. Lysosomal enzyme activities in leukocytes and fibroblasts were normal. sural nerve and two muscle biopsies showed only nondiagnostic abnormalities. Electron microscopy of lymphocytes, skin, and fibroblasts showed cytoplasmic inclusions. light microscopy of frontal cortex biopsy showed neuronal storage material staining positively with Luxol fast blue, and electron microscopy showed cytoplasmic membranous bodies in neurons, suggesting an accumulation of a ganglioside. At autopsy, all organs were small but otherwise normal and without abnormal storage cells in the liver, spleen, or bone marrow. Anterior spinal nerve roots showed loss of large myelinated axons. The brain was small and atrophic; cortical neurons showed widespread accumulation of storage material, most marked in the pyramidal cell layer of the hippocampus. Subcortical white matter was gliotic with loss of axons and myelin sheaths. In cortical gray matter there was a 35% elevation of total gangliosides, with a 16-fold increase in GM3, a three- to four-fold increase in GM2 gangliosides, and a 15-fold elevation of lactosyl ceramide. GM3 sialidase activity was normal in gray matter at 3.1 nmols/mg protein per hour and lactosyl ceraminidase I and II activities were 70% to 80% of normal. In white matter, total myelin was reduced by 50% but its composition was normal. Phospholipid distribution and sphingomyelin content were normal in gray matter, white matter, and in the liver. These biochemical findings were interpreted as nonspecific abnormalities. The nature of the neuronal storage substance remains to be determined.- - - - - - - - - - ranking = 1keywords = lipid (Clic here for more details about this article) |
2/47. Pituitary involvement by Wegener's granulomatosis: a report of two cases.We describe two cases of pituitary involvement by Wegener's granulomatosis. At initial presentation, or during subsequent disease "flares," a pattern of pituitary abnormality was suggested. During periods of remission, we found the pituitary returned to a nearly normal appearance. Loss of the normal posterior pituitary T1 hyper-intensity matched a clinical persistence of diabetes insipidus, suggesting there is permanent damage to this structure by the initial disease process.- - - - - - - - - - ranking = 283.08475278465keywords = granulomatosis (Clic here for more details about this article) |
3/47. Familial occurrence of systemic vasculitis and rapidly progressive glomerulonephritis.Two familial clusters of systemic vasculitis are described. In one family, microscopic polyangiitis and rapidly progressive glomerulonephritis occurred in HLA-identical siblings; in the second family, 3 second- and fourth-degree related members were affected by Wegener's granulomatosis. Published clusters of systemic vasculitides and Goodpasture's syndrome are reviewed, and, together with the observed families, the evidence for genetic susceptibility and a causative role of environmental factors for these diseases with special emphasis on the HLA system is discussed.- - - - - - - - - - ranking = 56.616950556931keywords = granulomatosis (Clic here for more details about this article) |
4/47. MR spectroscopy in gliomatosis cerebri.BACKGROUND AND PURPOSE: The diagnosis of gliomatosis cerebri with MR imaging is known to be difficult. We report on the value of MR spectroscopy in the diagnosis, grading, and biopsy planing in eight patients with histopathologically proved gliomatosis cerebri. methods: patients underwent MR imaging and MR spectroscopy (single-voxel point-resolved spectroscopy [PRESS] at 1500/135, and chemical-shift imaging [CSI] PRESS at 1500/135) before open (n = 4) or stereotactic (n = 4) biopsy. In six patients who underwent CSI, biopsy samples were taken from regions of maximally elevated levels of choline/N-acetylaspartate (Cho/NAA). RESULTS: All patients showed elevated Cho/creatine (Cr) and Cho/NAA levels as well as varying degrees of decreased NAA/Cr ratios, which were most pronounced in the anaplastic lesions. In low-grade lesions, there was a maximum Cho/NAA ratio of 1.3, whereas in anaplastic tumors, the maximum Cho/NAA level was at least 2.5. Spectra in two patients with grade III lesions revealed a lactate peak; lactate and lipid signals were seen in two patients with grade IV lesions. biopsy specimens from regions with maximally elevated levels of Cho/NAA showed dense infiltration of tumor cells. CONCLUSION: MR spectroscopy might be used to classify gliomatosis cerebri as a stable or a progressive disease indicating its potential therapeutic relevance.- - - - - - - - - - ranking = 1keywords = lipid (Clic here for more details about this article) |
5/47. role of lipids in the progression of renal disease in systemic lupus erythematosus patients.Systemic lupus erythematosus (SLE) is an autoimmune connective tissue disease marked by immune-complex mediated lesions in small blood vessels of various organs, especially the kidneys, although other factors may also be implicated in the pathogenesis of the disease. This article focuses on the role of lipids in the progression of glomerular, vascular and tubulo-interstitial lesions in two patients with lupus nephritis associated with pronounced hyper- and dyslipidemia. The pathogenesis of progressive glomerulosclerosis in both patients appears to be multifactorial. In addition to immune complex mediated lupus glomerulonephritis, progressively active in the first patient, severe nephrotic-range persistent proteinuria, arterial hypertension associated with hyperfiltration and hyperperfusion injuries and, to a minor extent, hyper- and dyslipidemia were observed. Immunological and non-immunological factors were shown to contribute to the development of tubulo-interstitial lesions. In both patients, in addition to local immune deposits, prominent tubulo-interstitial lipid deposits were probably causally related to both hyperlipidemia and the increased permeability of the glomerular filtration barrier. Tubular lesions were highlighted by intracytoplasmic lipid droplets as well as small cleft-like spaces found to be impacted in the tubular lumina. They were seen to penetrate tubular epithelial cells and eventually lodge in the interstitium, surrounded by mononuclear cell infiltrates and foam cells. In both patients, hypertensive angiopathy and extraglomerular vascular immune deposits were demonstrated. In addition, in the second patient, arteriolar and small arterial hyaline was found at the age of 28 years to be full of lipids and calcium precipitates, suggesting a peripheral atherosclerosis-like process which never occurs as a natural age-related condition. In conclusion, all parts of the nephron may be involved in the pathogenetic process causally related or influenced by hyper- or dyslipidemia. Associated either with endothelial cell injury and consequent insudation of lipids in the vascular walls, glomerular filtration barrier injury with hyperfiltration, or tubulo-interstitial lipid deposition, the mechanism of tissue damage by lipids in all parts of the nephron shares similarities with the pathogenesis of systemic atherosclerosis.- - - - - - - - - - ranking = 15keywords = lipid (Clic here for more details about this article) |
6/47. lymphomatoid granulomatosis in a 4-year-old boy.lymphomatoid granulomatosis is a necrotizing angiocentric and angiodestructive infiltrative process involving primarily the lung, skin, central nervous system, and kidney. The incidence is highest in middle-aged men and is rare in children. We report a case of lymphomatoid granulomatosis involving both skin and lung in a 4-year-old boy. The disease progressed to peripheral T-cell lymphoma, which was unusual in light of recent evidence suggesting a B-cell origin in the majority of cases.- - - - - - - - - - ranking = 339.70170334158keywords = granulomatosis (Clic here for more details about this article) |
7/47. diabetic retinopathy and serum lipids.The association between serum lipid levels and diabetic retinopathy has been investigated in many studies. Some studies show a positive relationship between serum cholesterol and low-density lipoprotein levels and retinal hard exudation. Other studies show serum triglyceride levels as being important in the progression of retinopathy. Certain other studies show no relationship between serum lipid levels and diabetic retinopathy. We review the literature on this subject and illustrate this report with an example of a diabetic with severe diabetic maculopathy and high serum lipid levels.- - - - - - - - - - ranking = 7keywords = lipid (Clic here for more details about this article) |
8/47. Angiographic features associated with antiphospholipid syndrome.We describe a case of primary antiphospholipid syndrome presenting with varied arterial abnormalities. patients with antiphospholipid syndrome commonly present with thrombotic problems, but there is a subgroup of patients who develop aneurysms with no evidence of vasculitis. This may represent part of the spectrum of the syndrome itself rather than an associated disease such as polyarteritis nodosa.- - - - - - - - - - ranking = 6keywords = lipid (Clic here for more details about this article) |
9/47. Wegener's granulomatosis presenting as mediastinal soft tissue mass invading the tracheal wall.Wegener's granulomatosis (WG) is a clinicopathologic entity of unknown cause characterised by a necrotising granulomatous vasculitis affecting multiple organs, especially the upper and lower respiratory tracts, lung and kidney. The lung is the most frequently, and sometimes the only involved organ. Single or multiple nodules, with or without cavitation, are the most common pulmonary manifestations in WG, but mediastinal involvement is atypical. The sole tracheal involvement is rare and hilar and mediastinal involvement has been thought not to be part of the clinical feature. We experienced a rare case of WG presenting as paratracheal mediastinal lesions with tracheal wall invasion, which responded dramatically to corticosteroid treatment. We present this case with a review of the literature.- - - - - - - - - - ranking = 283.08475278465keywords = granulomatosis (Clic here for more details about this article) |
10/47. Progression of primary APS (Hughes syndrome) into serological SLE: case report.An Arab woman presented with a history of multiple foetal losses and spontaneous venous thromboembolism, which recurred on several occasions. The presence of antiphospholipid antibodies in the absence of other clinical and serological features of systemic lupus erythematosus (SLE), including negative antinuclear antibodies (ANA), confirmed the diagnosis of primary antiphospholipid syndrome (PAPS). More than 15 years after the beginning of clinical events and 10 years after diagnosis, she progressed into the immunological domain of SLE without concurrent clinical features. The patient exhibited weakly positive ANA of a speckled pattern, strongly positive anti (ds) dna antibodies and false positive VDRL. lymphopenia has not been observed at any stage of the follow-up. Although the evolution of PAPS into SLE has been infrequently reported, this seems to be another case suggesting that PAPS in some patients may be an early manifestation of lupus.- - - - - - - - - - ranking = 2keywords = lipid (Clic here for more details about this article) |
| | Next -> |