Cases reported "Lipidoses"

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1/12. Hepatosplenomegalic lipidosis: what unless Gaucher? adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction mutation.

    A 36-year-old woman was admitted for hepatosplenomegaly and anemia. Bone marrow cytology showed "sea-blue histiocytes", vacuolated macrophages and plasma cells. As primary liver disease, malignancy or hematologic disorders were excluded, and plasma chitotriosidase activity was increased 27-fold over control, the presence of a lysosomal storage disease was suspected. Biochemical analysis of skin fibroblasts revealed normal glucocerebrosidase and sphingomyelinase activity, but lipid analysis showed a more than 15-fold accumulation of cholesterol esters within the cells. The activity of lysosomal acid lipase (LAL) in fibroblast homogenates was decreased to 12% of control subjects. Mutational analysis of the patient's blood showed the homozygous G-->A mutation at position -1 of the exon 8 splice donor site (E8SJM-allele) known for adult cholesteryl ester storage disease (CESD); the polymorphic background was that of the complex haplotype -6Thr, 2Gly, 894 G-->A. Based on clinical, laboratory, cytological and and biochemical findings, CESD can clearly be separated from other more frequent inherited lysosomal storage diseases, e.g. atypical forms of gaucher disease.
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ranking = 1
keywords = sea-blue histiocyte, sea-blue, histiocyte
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2/12. Multicentric reticulohistiocytosis. A case report.

    A patient with multicentric reticulohistiocytosis is reported, and the clinical and pathological features of the condition are discussed.
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ranking = 0.00024954933421728
keywords = histiocytosis
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3/12. Cardiopulmonary complications in multicentric reticulohistiocytosis. Report of a case.

    Multicentric reticulohistiocytosis (MR) is a rare disease. Only recently was its systemic nature appreciated. It affects the skin, mucous membranes, joints, muscles, tendon sheaths, synovial membranes, bones, liver, kidney, lymph nodes, heart, and lungs. Our patient, a 50-year-old woman, had life-threatening cardiopulmonary complications of MR. The connection between the skin lesions, the arthritis, and the pathologic changes in the heart and lungs is still obscure.
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ranking = 0.00024954933421728
keywords = histiocytosis
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4/12. Progression of neurovisceral storage disease with supranuclear ophthalmoplegia following orthotopic liver transplantation.

    A 7-year-old girl with progressive ataxia, spasticity, supranuclear ophthalmoplegia, and sea-blue histiocytes in her bone marrow underwent orthotopic liver transplantation for hepatocellular carcinoma. After an initial period of stabilization, she has shown progression of neurologic symptoms with recurrence of storage material in the transplanted liver.
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ranking = 1
keywords = sea-blue histiocyte, sea-blue, histiocyte
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5/12. Case report: erdheim-chester disease: polyostotic sclerosing histiocytosis.

    erdheim-chester disease is characterised by diffuse metaphyseal and diaphyseal sclerosis of long tubular bones of the appendicular skeleton. In addition, there is an inconstant tendency to visceral involvement by lipo-granulomatous infiltration. Histologically, this condition has marked similarities to hand-Schuller-Christian disease. A further case is presented which supports the view that erdheim-chester disease is part of the spectrum of histiocytoses and not a distinct pathological entity. Polyostotic sclerosing histiocytosis would be an appropriate alternative label for this condition.
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ranking = 0.00024954933421728
keywords = histiocytosis
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6/12. Bilateral and massive lipoidal infiltration of the cornea (secondary lipoidal degeneration).

    A 41-year-old white man presented with bilateral white infiltration of the cornea from limbus to limbus. Extensive examination revealed no manifestations of disorders of lipid metabolism and the patient gave no history of previous ocular disease. VDRL and other serological tests were negative. The corneal button removed by penetrating keratoplasty from the right eye was studied by light microscopy, histochemistry and electron microscopy. The light microscopic appearance was consistent with lipoidal degeneration of the cornea associated with stromal vascularization and chronic keratitis, more likely a secondary lipoidal degeneration. Cholesterol clefts were seen in all levels of the stroma focally surrounded by a foreign body giant cell reaction. Lipid vacuoles were observed in extracellular and intracellular locations within histiocytes and fibroblasts in vascularized and inflammed areas. Lipid stains disclosed cholesterol crystals, neutral fats, and phospholipids.
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ranking = 0.00022616957784454
keywords = histiocyte
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7/12. Clinical and extraneural histologic diagnosis of neuronal ceroidlipofuscinosis.

    Neuronal ceroid-lipofuscinosis is manifested by visual and intellectual deterioration and seizures. Autofluorescent lipopigments are found in neural and many nonneural tissues, with characteristic staining and ultrastructural properties. Presumptive diagnosis can usually be made on the basis of history, physical examination, and electrodiagnostic tests, but in the absence of a specific biochemical defect, histologic confirmation is essential. A 6-year-old boy with the clinical appearance of the juvenile form of the disease had sea-blue histiocytes in the bone marrow, and curvilinear profiles in ultrastructural inclusions in skin biopsy tissue, cultured skin fibroblasts, and bone marrow cells.
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ranking = 1
keywords = sea-blue histiocyte, sea-blue, histiocyte
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8/12. erdheim-chester disease: a distinct lipoidosis or part of the spectrum of histiocytosis?

    erdheim-chester disease has always been considered a distinct lipoidosis based on clinical and radiographic criteria. Pathologically, it has been indistinguishable from hand-Schuller-Christian disease. Analysis of the 15 reported cases lends some doubt as to the diagnostic criteria. A new case is presented that strongly suggests that erdheim-chester disease is actually part of the spectrum of the histiocytoses.
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ranking = 0.00019963946737382
keywords = histiocytosis
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9/12. Orbital manifestations of erdheim-chester disease.

    The ophthalmological changes in two patients with erdheim-chester disease are described. These consist of exophthalmos, ophthalmoplegia, xanthelasma, optic disc swelling, blindness due to optic atrophy, retinal striae, and bilateral enhancing orbital masses on CT scan. The clinical and histopathologic findings of erdheim-chester disease are reviewed and the manifestations in two patients with orbital change are presented. This is believed to be the first report describing the ophthalmological manifestations of erdheim-chester disease. Our observations support the view that erdheim-chester disease is unrelated to the histiocytosis X group.
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ranking = 4.9909866843455E-5
keywords = histiocytosis
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10/12. adult dystonic lipidosis: clinical, histologic, and biochemical findings of a neurovisceral storage disease.

    A 43-year-old man presented with splenomegaly and a 20-year history of a neurologic disorder that included vertical supranuclear ophthalmoplegia, mild dementia, and a movement disorder. adult dystonic lipidosis was diagnosed from the clinical picture and demonstration of foamy and sea-blue histiocytes in bone marrow. Ultrastructural patterns in cytolysosomes suggested accumulation of neutral fat and phospholipids. Liver content of bis-(monoacylglycerol) phosphate was increased, probably because the number of lysosomes had increased. Sphingomyelinase activity was normal in cultured skin fibroblasts. Juvenile and adult dystonic lipidosis form a clinically, histologically, and biochemically distinct neurovisceral storage disease that differs from Niemann-Pick disease.
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ranking = 1
keywords = sea-blue histiocyte, sea-blue, histiocyte
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