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1/18. spleen localization of light chain deposition disease associated with sea blue histiocytosis, revealed by spontaneous rupture.

    Splenic involvement by a light chain deposition disease (LCDD) associated with sea-blue histiocytosis occurred in a 55-year-old man presenting with LCDD of the kidney without myeloma. Lambda light chain deposits were demonstrated by immunohistochemistry in vessel walls and along the ring fibres of the red pulp sinuses. Accumulation of sea blue histiocytes in the cords was also present. Stiffness of the walls of the red pulp sinuses resulting from light chain deposits may have induced accumulation and destruction of circulating blood cells. Lipid catabolism with production of ceroids may have resulted in lipidic histiocytosis with a sea blue histiocyte pattern. ( info)

2/18. 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. ( info)

3/18. Successful pregnancy in a patient with familial sea-blue histiocyte syndrome.

    A 27-year-old Indian woman at 23 weeks' gestation presented with decompensated liver cirrhosis, coagulopathy, restrictive lung disease with cor pulmonale and preeclampsia. She was diagnosed to have sea-blue histiocyte syndrome (SBHS) at the age of 13 years and was treated conservatively. There was worsening liver, respiratory and bone marrow function as the pregnancy progressed. She underwent a successful pregnancy despite her poor medical condition and advanced disease state. We described the first case of familial SBHS in a pregnant patient from asia. ( info)

4/18. 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. ( info)

5/18. globus pallidus calcification in down syndrome with progressive neurologic deficits.

    We report a 10-year-old down syndrome patient who developed dystonia, choreoathetosis, dysarthria, and dysphagia beginning with hemiparesis. Cranial computed tomography disclosed bilateral calcification in the globus pallidus which resembled a sign of premature aging. Conversely, the clinical course and magnetic resonance imaging findings resembled those of Hallervorden-Spatz syndrome. ( info)

6/18. Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation.

    splenomegaly with sea-blue histiocytes, thrombocytopenia and hypertriglyceridemia is a very rare association that has been described in only one report to date. The molecular defect in the two reported patients consists in a deletion of a leucine at position 149 in the receptor-binding region of the apoE molecule. Here, we report on another family in whom the proband and his brother were diagnosed with splenomegaly, thrombocytopenia and hypertriglyceridemia. An apoE p.Leu149del mutation was found in both subjects. A large beta band in the VLDL fraction and elevated VLDL cholesterol-to-plasma triglyceride ratio was observed in the proband only. Their mother, presenting with isolated hypertriglyceridemia, also carried the same p.Leu149del mutation. The coexistence of factors facilitating the development of hypertriglyceridemia and/or low HDL-cholesterol level could explain why the proband and his brother developed a splenomegaly with thrombocytopenia, whereas the mother did not. Moreover, the presence of an apoE2 allele in the proband likely explains the more severe phenotype we observed in this subject. In conclusion, the apoE p.Leu149del mutation results in a very striking phenotype including one or all symptoms among splenomegaly, thrombocytopenia and hypertriglyceridemia, and should be considered as a differential diagnosis of storage disorders in the causes of splenomegaly with sea-blue histiocytes. ( info)

7/18. Acquired sea-blue histiocytosis in beta thalassemia major.

    Primary sea-blue histiocytosis is a rare syndrome. Secondary or acquired sea-blue histiocytosis occurs in a wide array of hematologic and systemic disorders, rarely these cells have been found in cases of thalassemia. A case of sea-blue histiocytosis in a patient of thalassemia is being reported for its rarity. ( info)

8/18. Histiocytic diseases of bone marrow.

    The disease most likely to be associated with large numbers of bone marrow storage histiocytes is Gaucher's disease. In our community of western pennsylvania, eastern ohio, and west virginia, we have encountered 30 patients with Gaucher's disease during the past 25 years. During the same 25 years, a group of about 20 other patients have been examined for storage cells caused by diseases other than Gaucher's disease. These other conditions are associated with smaller numbers of storage cells, and these patients require a more extensive examination that should include serum or tissue lipid analyses, enzymology, and electron microscopy to assist in the diagnosis. ( info)

9/18. sea-blue histiocyte syndrome with cutaneous involvement. Case report with ultrastructural findings.

    A patient with infiltration of the skin resulting in eyelid swelling and facial nodules was recognized as a case of sea-blue histiocyte syndrome with cutaneous involvement. Typical sea-blue histiocytes were found in the skin and confirmation was provided by electron microscopy. Hepatosplenomegaly, lung infiltrates and bone marrow involvement were the other symptoms. The relationship between sea-blue histiocyte syndrome and adult Niemann-Pick disease is also discussed. ( info)

10/18. adult Niemann-Pick disease masquerading as sea blue histiocyte syndrome: report of a case confirmed by lipid analysis and enzyme assays.

    We present the clinical, pathologic, and metabolic findings of an adult woman with debilitating coronary artery disease and hepatosplenomegaly who was discovered to have multiorgan infiltration by sea blue histiocytes. A diagnosis of sea blue histiocyte (SBH) syndrome was made and no further workup performed. The patient suffered from progressive heart failure and sepsis following coronary artery bypass surgery and died 9 months after presentation. tissues examined at autopsy showed pronounced infiltrates of both granular sea blue histiocytes and foamy, vacuolated histiocytes, which were morphologically compatible with Niemann-Pick cells. Ultrastructural examination of these cells revealed lamellar myelin-like figures as described in Niemann-Pick (N-P) disease. Fibroblast enzyme assay studies and liver lipid analyses performed after the patient's death revealed pronounced sphingomyelinase deficiency and a lipid profile diagnostic of N-P disease, type B. This case adds further support to the claim that some cases of apparent SBH syndrome actually represent a type of N-P disease. ( info)
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