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A patient with sea-blue histiocytosis in spleen and bone marrow with an accompanying hyperlipidaemia is described. The hyperlipidaemia was due to an increase in "free" cholesterol, lecithin, and triglycerides. Despite these findings lecithin-cholesterol acyl transferase activity was normal. Although
Hyperferritinemia (>10,000 ng/ml) is an important hallmark used as an indicator of infection triggered macrophage activation syndrome leading to hemophagocytic lympho histiocytosis (HLH). Measurement of serum ferritin can be used in diagnosis as well as disease monitoring indicator and prognosis
Four patients with malignant histiocytosis are described. Major clinical signs were fever, lymphadenopathy, hepatomegaly and splenomegaly. Laboratory studies showed leukopenia, thrombocytopenia, low leukocyte alkaline phosphatase (LAP) score, normal erythrocyte sedimentation rate (ESR) and elevated
The present report describes a rare case of hematophagic histiocytosis associated with acute renal failure. A 32-year-old woman was referred to us from a local hospital because of progressive deterioration of renal function, jaundice and a bleeding tendency. The physical findings at admission
Niemann-Pick disease (NPD) is an inherited metabolic disorder caused by a deficiency of the enzyme acid sphingomyelinase coded by SMPD1 gene. In contrast with type A NPD, a severe neurodegenerative disease of infancy, type B NPD patients have little or no neurodegeneration, and frequently survive
A 31-year-old man with no significant medical history presented with a 5-day history of progressive left upper quadrant abdominal pain. Physical examination revealed a tender guarded abdomen, no icterus, and bilateral corneal "arcus senilis"-like changes. Laboratory workup showed a mild normocytic,
An adult patient is described with hepatomegaly and sea-blue histiocytes in the bone marrow. A diagnosis of cholesterol ester storage disease was established following enzyme and lipid analyses on liver biopsy and cultured skin fibroblasts. Acid esterase activity was deficient (approx. 5% of
Growth without growth hormone (GH) has occasionally been described in patients who have had tumors removed in the hypothalamic-pituitary area. Most of these patients have metabolic abnormalities such as obesity, dyslipidemia and fatty liver. This report describes the metabolic beneficial effects of
Dear Editor, An 83-year-old woman developed yellow-brownish infiltrates, nodules, and tumors mimicking xanthomas, mostly involving the periorbital and chest area within three months (Figure 1). She had no abnormalities in serum cholesterol or triglycerides levels. A detailed laboratory analysis
BACKGROUND
Hemophagocytic lymphohistiocytosis (HLH) is associated with hypercytokinemia in children. Although HLH can be also observed after hematopoietic stem cell transplantation (HSCT), the incidence and clinical features of HLH after HSCT remain obscure.
METHODS
The clinical features of HLH
Levels of total lipids, cholesterol and triglycerides were followed in 30 children with malignant hematological diseases, or solid tumors; in addition, chylomicrons, VLDL, LDL and HDL were separated by electrophoresis on polyacrylamide gel. Nine of the 13 children with acute lymphoblastic leukaemia
Miglyol 812 is a medium-chain triglyceride used in toxicology studies as an excipient to improve test compound solubility/absorption. As part of a larger toxicology study, 15 Wistar Han IGS rats/sex/group were dosed by oral gavage for 4 weeks with 10 mL kg(-1) day(-1) of 100% Miglyol 812 or 0.5%
A patient who developed diffuse normolipidemic plane xanthomas also presented with IgG lambda monoclonal gammopathy, hypernephroma, an unusual family cluster of leukemia (with two family members in two generations), and a unique, acquired C1-esterase inhibitor deficiency. A second patient presented
Xanthogranuloma is a benign, non-Langerhans cell histiocytosis primarily diagnosed in infants and children, although a subset occurs in adults. Multifocal eruptive presentation of xanthogranuloma is very rare with only 4 previous cases reported in the literature to our knowledge. We describe a case
Splenomegaly with sea-blue histiocytes is not associated with dyslipidemia, except in severe cases of hypertriglyceridemia, Tangier disease, or lecithin cholesterol acyltransferase deficiency. We describe two kindreds in which the sea-blue histiocyte syndrome was associated with an apoE variant in