Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient with classic (type A) Niemann-Pick disease had the usual clinical signs of failure to thrive, hepatosplenomegaly, and intellectual deterioration in the first year of life. In addition, there was striking hypotonia, areflexia, and abnormal nerve conduction velocities. Pathologically, the Schwann cells were filled with numerous cytoplasmic bodies. These bodies measured 1 mu in diameter and appeared to be dense, round masses with poorly defined internal structure but with occasional slightly curved parallel lines and small radiolucent areas. Peripheral nerve involvement may be a frequent finding in patients with classic Niemann-Pick disease.
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PMID:Peripheral neuropathy in classic Niemann-Pick disease: ultrastructure of nerves and skeletal muscles. 16 50

The case report of Niemann-Pick disease, in a 26 years old woman whose first symptoms appeared when she was 17 months old, is described. The disease, involving considerable hepatosplenomegaly and pulmonary infiltration, was diagnosed by the presence of lipid laden macrophages (resembling foam cells, sea blue histiocytes and kidney intermediate forms) in the bone marrow, liver and kidney, and an excess of tissue sphingomyelin and cholesterol, and a decrease in sphingomyelinase in circulating leucocytes. The results of ultrastructural, histochemical and biochemical studies on hepatic and renal lipids are reported. The relationship of the case to the sea blue histiocyte syndrome is discussed.
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PMID:[Adult Niemann-Pick disease: a 26 years follow-up. Report of a case with isolated visceral involvement, excess of tissue sphingomyelin, and deficient sphingomyelinase activity (author's transl)]. 18 33

Clinical, biochemical, and electron microscopic studies are presented in two brothers with Niemann-Pick disease. The clinical features include hepatosplenomegaly and mental retardation without any other neurological signs. Roentgenograms of the chest showed bilateral diffuse reticular infiltration. The amounts of sphingomyelin and cholesterol in liver were increased, and sphingomyelinase activities in both liver and skin fibroblasts were markedly reduced in Case 1. Numerous foam cells and myelin figures were observed in the liver, kidneys, bone marrow, and lymph nodes on electron microscopical examination. These cases were regarded as a variant of Niemann-Pick disease from our investigations as they have mental retardation as an exceptional symptom when they are diagnosed as type B.
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PMID:Chronic Niemann-Pick disease with sphingomyelinase deficiency in two brothers with mental retardation. 20 52

A simple one-vial-method was developed for the quantitative determination of sphingomyelinase activity in human leukocytes and urine, using [14C-methyl] sphingomyelin. The measured activities of healthy control persons show a higher scatter in (n=50) urine (1.2 +/- 0.5 nmol/h . ml urine) than in (n=9) leukocytes (2.15 +/- 0.35 nmol/h . mg protein). Long term tests showed that the enzyme activities in urine can best be correlated to the 24-h-creatinine excretion. A distinct loss of enzyme activity was found in dialyzed urine starting at about the third day; this did not occur in undialyzed urine. The method also shows good reproducibility in micro-tests. It is therefore suitable for screening tests (urine of persons suffering from Niemann Pick disease) and for the prenatal diagnosis of sphingomyelinosis. For one out of two children with symptoms of sphingomyelinosis (hepatosplenomegaly, mental retardation, and neurological deterioration) the diagnosis was confirmed by morphological examination of tissues obtained by biopsy. In both cases leukocytes and urine revealed normal sphingomyelinase activity. These biochemical results in conjunction with the clinical and morphological picture were indicative of type C Niemann-Pick disease.
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PMID:An improved and simple micro-method of sphingomyelinase assay in leukocytes and urine. 21 Nov 76

In a 6-year-old girl with normal to outstanding intelligence Niemann-Pick disease was diagnosed by the demonstration of an about 90% deficient sphingomyelinase activity. Abnormalities of the eye fundi are described which are comparable to but quantitatively deviate from the classic cherry-red spot as known from neurolipidoses. The brownish-red foveola was surrounded by a relatively thin opaque ring around which punctate white deposits (lipids?) could be detected. The absence of any other neurologic symptom was in contrast iwth an extreme hepatosplenomegaly, foam cells in the bone marrow, lung infiltration, underweight, and undergrowth. Therefore, the case was classed with the type B of Niemann-Pick disease, although the common definition of this type excludes cerebral as well as oculoneural involvement. In the literature only one comparable case could be found which, however, had not been enzymatically confirmed. In the future the definition of type B of Niemann-Pick disease should include the possibility of oculoneural involvement.
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PMID:[Niemann-Pick disease type B: An enzymatically confirmed case with unexpected retinal involvement (author's transl)]. 30 75

Niemann-Pick disease type B was diagnosed clinically and enzymatically in a 4 years old girl presenting with hepatosplenomegaly, diffuse interstitial infiltrations of both lungs on chest roentgenograms, and foam cells in the bone marrow aspirate. Intelligence and neurological examinations were normal. Spingomyelinase activity was almost totally deficient in leukocytes and cultured skin fibroblasts. Unexpectedly, fundoscopy revealed oculo-neural involvement with a reddish-brown spot of the macula comparable to but differing in some respects from the classic cherry-red spot found in neurolipidoses. By definition patients with type B Niemann-Pick disease should have no cerebral or oculo-neural involvement. Two comparable cases have been described in the literature. The prognosis of this special type is not yet known. For classification--and especially for genetic counselling--it seems important to include the possibility of oculo-neural involvement in the diagnosis of Niemann-Pick disease type B.
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PMID:Oculo-neural involvement in an enzymatically proven case of Niemann-Pick disease type B. 49 62

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

A severe visceral form of Niemann-Pick disease from the first days of life was manifested in the progressive retardation of psychomotor development and hepatosplenomegaly. The disease was complicated by anemia and cachexia which led to a fatal outcome in a girl of 7 months.
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PMID:[Niemann-Pick disease (Crocker type B)]. 90 8

Four siblings of a large Brazilian kindred are shown to have a variant of Niemann-Pick disease masquerading as the sea-blue histiocyte syndrome. They show a very similar clinical and laboratory picture: massive hepatosplenomegaly, low height for age, diffuse interstitial pulmonary infiltration, high levels of serum acid phosphatase and sea-blue histiocytes in the bone marrow. The neurological examination, as well as the retinae and maculae are normal. The high-density lipoprotein serum cholesterolemia ranged from 8.6 to 13.9 mg/dl, much lower than the 5th centile of normal distribution. The AI apolipoprotein concentrations in two siblings (0.29 and 0.44 g/l) were also below the minimal reference level of 0.90 g/l. The histochemical reactions demonstrated that sphingomyelin and ceroid are the accumulating substances in the marrow histiocytes. Electron microscopically, the cytoplasmatic granules of the histiocytes are phagolysosomes which contain scarce amorphous material, loose arranged lamellae, or dense well-organized structures with a fingerprint or fine network pattern. The sphingomyelinase activity in leucocyte extracts ranged from 4.9 to 8.6% and in cultured fibroblast extracts from 7.7 to 10% of simultaneous controls. The activity of other lysosomal enzymes was normal. Accordingly, this variant of Niemann-Pick disease should be classified as chronic nonneuronopathic sphingomyelinase-deficient type. The present data suggest that this variant is inherited as an autosomal recessive character. Our findings support the view that the sea-blue histiocyte syndrome is not an independent entity.
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PMID:Sea-blue histiocytosis in a family with Niemann-Pick disease. A clinical, morphological and biochemical study. 158 41

Niemann-Pick disease (NPD) type B was diagnosed clinically and enzymatically in a 5-year-old girl presenting with failure to thrive, hepatosplenomegaly, diffuse interstitial infiltration of both lungs on chest roentgenograms, cherry red spot, and foam cells in the bone marrow aspirate. Intelligence and neurological examination were normal, sphingomyelinase activity was severely deficient in cultured skin fibroblasts. We present the first case of NPD type B in Taiwan and relevant literatures were reviewed.
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PMID:Niemann-Pick disease type B with ocular involvement: report of a case. 177 42


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