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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of a 27 month old girl suffering from a rare form of lipidosis is described. Clinical symtoms consisted of a moderate hepatosplenomegaly and a progressive psychomotor retardation. Bioptical examination of the liver, appendix and skin revealed a pronounced lipid storage in histiocytes, hepatocytes, vascular endothelium and in peripheral nervous system. Histochemically, a generalized storage of phosphoglycerides and cholesterol was found. It was accompanied with a moderate amount of sphingomyelin and a variable amount of glycolipids (predominantly glycosphingolipids), the latter being stored mainly in the peripheral nervous system and in the vascular endothelium. Chromatographically, an increased concentration of lysobisphosphatidic acid and cholesterol could be detected. The ultrastructure of storage cytosomes was rather pleomorphic often with concentrically lamellar appearance. Further details of the investigation are described and the relation of this case to those described by Baar and Hickmans (1956) and Wiedemann et al. (1972) is stressed. Due to a strong evidence that this group of diseases represents a new type of phospholipid storage disease the name "Phospholipidosis Type II" (Baar-Wiedemann) or "Phosphoglyceridosis" is proposed, whereas "Phospholipidosis Type I" or "Sphingomyelinosis" should be reserved for the classical Niemann-Pick complex.
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PMID:Lipidosis with a predominant storage of phosphoglycerides (phospholipidosis type II--Baar, Wiedemann). 80 53

Niemann-Pick disease, type C is a lysosomal storage disease characterized by hepatosplenomegaly, the presence of foam cells in the reticuloendothelial system, and gradual motor and cognitive decline leading to death. Over 90% of patients demonstrated a defect of cholesterol esterification in cultured fibroblasts. This finding allows a reliable biochemical diagnosis; however, the test is complex and time-consuming and only available in a few centers. Ultrastructural examination of skin biopsy in 5 patients with Niemann-Pick disease, type C demonstrated lysosomes containing loosely arrayed dark lamellated structures within a clear matrix. Affected cells included macrophages, axons, pericytes, Schwann cells, smooth muscle cells, and fibroblasts with relative sparing of vascular endothelium and melanocytes. These findings demonstrate the usefulness of this simple and readily available morphologic test for the diagnosis of Niemann-Pick disease, type C.
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PMID:Ultrastructural findings in skin from patients with Niemann-Pick disease, type C. 236 Sep 58

Lysosomal acid lipase deficiency (LALD) is a rare genetic disease characterized by the accumulation of cholesteryl esters and triglycerides in many organs, including the liver, spleen, lymph nodes, bone marrow, and vascular endothelium. Patients with LALD can appear asymptomatic until liver failure or premature sudden death from coronary artery disease, stroke, and aneurysm, which lead to the diagnosis. Herein, we present a diagnostic workup in a young 17-year-old female patient who manifested hepatosplenomegaly, elevated liver enzymes, severe dyslipidemia, and systemic atherosclerosis. Liver biopsy demonstrated over 90% diffuse microvesicular steatosis, lipid accumulation in Kupffer cells, and birefringent cholesteryl ester crystals. The diagnosis of LALD was proven by the decrease of lysosomal acid lipase activity in dried blood spots and by the detection of two compound heterozygous mutations in the LIPA gene: nonsense mutation G796T (Gly266Term) and splicing site mutation G894A (E8SJM). The patient started enzyme replacement therapy with sebelipase alfa. Following the 1-year treatment, the patient remained asymptomatic, her serum aminotransferase levels were normal, liver density increased due to lipid resorption, and plaque-associated stenosis of carotid artery regressed. Moreover, liver biopsy showed a decrease of cholesteryl ester crystals in Kupffer cells.
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PMID:Fatty Liver and Systemic Atherosclerosis in a Young, Lean Patient: Rule Out Lysosomal Acid Lipase Deficiency. 3191 62