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)

Niemann-Pick type C disease diagnosed in adult neurology departments may be infantile or juvenile forms with prolonged life span or forms starting at adolescence or adulthood. The evolution is generally slower compared to the infantile cases. Psychomotor retardation is practically constant. Cerebellar ataxia and extrapyramidal manifestations are often found in opposition to pyramidal symptoms. Supranuclear ophthalmoplegia with a down-gaze failure is nearly constant. Cataplexy and other types of seizures may be found during the evolution of the disease. In some cases a psychosis may be the only manifestation for several years; the treatment by psychotropic drugs raises the question of a superimposition of a drug-induced lipidosis. Hepatosplenomegaly is often discrete, contrary to infantile cases. Foam cells or sea-blue histiocytes are a general feature of the disease. Although the primary defect is unknown, diagnosis must be confirmed by the defect in cholesterol esterification from exogenous cholesterol.
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PMID:Clinical aspects of Niemann-Pick type C disease in the adult. 181 35

A woman with known Niemann-Pick disease, type B, presented at age 33 with upper gastrointestinal bleeding, ascites, and peripheral edema. Evaluation showed massive hepatosplenomegaly, infiltration of the liver with Niemann-Pick cells, cirrhosis, and evidence of portal hypertension. Chronic gastrointestinal bleeding, thrombocyctopenia, and platelet dysfunction were treated successfully by splenectomy. Cirrhosis and portal hypertension have not been reported previously in adult Niemann-Pick disease in the absence of some other cause.
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PMID:Cirrhosis and portal hypertension in a patient with adult Niemann-Pick disease. 198 55

Very low serum levels of high density lipoprotein cholesterol ranging from 8.6 to 13.9 mg/dl were detected in four out of 12 sibs of a Brazilian kindred with the non-neuropathic form of Niemann-Pick disease. Hepatosplenomegaly, interstitial infiltration of the lungs, absence of neurological signs, sea-blue histiocytes in the bone marrow and liver, and high values for serum acid phosphatase (18 to 32 U/l) were common to all affected children. Leucocyte acid sphingomyelinase activity ranged from 3.6 to 6.5% of mean control values, and fibroblast activity from 9 to 13% of mean controls. The parents had low-normal levels. The relationship between these findings is unclear and deserves further investigation.
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PMID:Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis. 212 Apr 45

The C57BL/KsJ spm/spm mouse, an animal model of Niemann-Pick disease, shows defective sphingomyelinase activity resulting in accumulation of sphingomyelin in various organs. To replace the defective enzyme, allogeneic bone marrow-plus-liver transplantation was performed. Bone marrow transplantation with or without concomitant liver grafting in C57BL/KsJ spm/spm mice at the age of 2-9 weeks led to an amelioration of the hepatosplenomegaly. The treatment, however, neither prevented the development of neurological signs nor increased the life-span. The sphingomyelin and cholesterol contents of the liver decreased, while sphingomyelinase activity in the liver increased after bone marrow transplantation. Foam cells disappeared from the bone marrow, liver, spleen, thymus, and lymph nodes, but depletion of Purkinje cells was not prevented. These results suggest that bone marrow transplantation either alone or with liver transplantation may become a useful strategy for the treatment of Niemann-Pick disease provided the central nervous system is not involved.
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PMID:Allogeneic bone marrow-plus-liver transplantation in the C57BL/KsJ spm/spm mouse, an animal model of Niemann-Pick disease. 213 61

The second case of infantile Niemann-Pick disease was reported in a Thai newborn baby who presented with respiratory distress and hepatosplenomegaly from birth and who succumbed from bronchopneumonia 20 days later. Autopsy examination showed generalized accumulation of foam cells in reticuloendothelial organs. The parenchymal cells of visceral organs as well as neurones in the central nervous system also showed cytoplasmic vacuolization. Electron microscopic study demonstrated characteristic intracytoplasmic electron-lucent membrane-bound bodies. The histologic and ultrastructural findings were similar to those described in the literature.
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PMID:Niemann-Pick disease: a case report. 228 94

A case of partial sphingomylinase deficiency with supranuclear vertical ophthalmoplegia, perceptive hearing loss and renal failure is reported. Extensive studies revealed sea-blue histiocytosis in bone marrow, delayed peripheral nerve conduction velocity, selective IgG and IgM deficiency, mild hepatosplenomegaly and testicular hypotrophy and retention. Although renal failure, perceptive deafness, immunoglobulin deficiency and testicular malformation are rare conditions in sphingomyelinase deficiency, this case mimicked to lipidosis reported by Neville. The association of congenital malformation and uremia might accentuate the symptoms.
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PMID:Partial sphingomyelinase deficiency with sea-blue histiocytosis and neurovisceral dysfunction. 254 78

Patients grouped into categories termed type C Niemann-Pick disease and the Nova Scotia isolate called type D Niemann-Pick disease are characterized by mild to moderate hepatosplenomegaly, sea-blue histiocytes in the bone marrow, supranuclear gaze paresis in the vertical plane, slowly progressing ataxia, and mental deterioration. These signs are caused by abnormal intracellular cholesterol homeostasis. Cholesterol that enters cells from the circulation through the LDL receptor is not processed in a timely, normal manner by cells in parenchymal organs and the CNS. It therefore accumulates in toxic quantities as unesterified cholesterol causing cellular and tissue damage. Knowledge of the primary, consistent disturbance in cholesterol disposition has led to the development of tests to diagnose patients, identify heterozygotes, and assure the prenatal detection of these disorders. Therapeutic strategies include reduction of dietary cholesterol, apheresis techniques designed to reduce LDL cholesterol available to cells, and reduction of formation of LDL and increase of synthesis of HDL to lower cellular uptake of cholesterol and enhance egress of this lipid from intracellular storage sites. The development of procedures that block cholesterol formation but do not up-regulate LDL receptors on plasma cell membranes is considered to be highly important for the therapy of types C and D Niemann-Pick disease.
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PMID:Niemann-Pick disease types C and D. 264 22

Two brothers, a seven-year-old male and a nine-year-old female are reported. Clinical features include scholar troubles and clumsiness, hepatosplenomegaly, vertical supranuclear ophthalmoplegia and ataxic gait. Moreover, the girl showed intention tremor. Foamy histiocytes were seen in bone marrow and some Niemann-Pick type Kupffer cells were present in liver. Girl's conjunctival biopsy showed lamellar inclusions. Biochemical studies were performed in girl's skin and liver biopsies. Sphingomyelinase activity assayed with 14C sphingomieline in cultured skin fibroblasts was 26% at the mean control value. Liver lipid composition did not show an appreciable increase of sphingomyelin or cholesterol, but bis (monoacylglyceryl) phosphate was clearly elevated. These data are compatible with Niemann-Pick disease type C.
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PMID:[Type C Niemann-Pick disease in 2 siblings. Biochemical bases of its diagnosis]. 301 38

Three males (aged 10 years, 3 years 9 months and 2 years 8 months) with profound sphingomyelinase deficiency are presented. The sphingomyelin storage in the liver biopsies attained 30-fold, 65-fold and 16-fold increases against controls, respectively. Levels of bis(monoacylglyceryl) phosphate were also increased. In two cases the bone marrow contained foam cells with liquid crystals of sphingomyelin. Besides the visceral involvement dominated by hepatosplenomegaly, all three cases showed discrete, so far stationary (8 years, 42 months and 28 months) neuropathic features and retinal lesions resembling the classical cherry-red spot. Electrophysiological examinations showed a variable reduction of peripheral nerve conduction velocity and prolongation of the latencies of somatosensory, visual and auditory evoked potentials. Ultrastructural examination of skin nerves showed a slight storage, mainly in Schwann cells. In some myelinated fibres there were pseudomyelinic ovoids. The cases therefore displayed features of both A and B types of sphingomyelinase deficiency and should be conventionally classified as intermediate. However, the very low levels of in vivo sphingomyelin hydrolysis (not exceeding 6%, against 30 +/- 10% in type B and 77 +/- 5% in controls) were clearly within the range of type A values (5 +/- 2%). Accordingly, we suggest that the cases may be biochemically classified as variants of type A disease.
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PMID:A new variant of sphingomyelinase deficiency (Niemann-Pick): visceromegaly, minimal neurological lesions and low in vivo degradation rate of sphingomyelin. 310 73

Neonatal hepatitis is a nonspecific term that may include a variety of disease entities. Two patients are presented who developed jaundice in the neonatal period and progressive hepatosplenomegaly. The infants were initially felt to have "neonatal hepatitis" but were subsequently found to have Niemann-Pick disease. Biochemical investigation revealed normal levels of sphingomyelinase activity in leukocytes and liver but diminished levels in cultured skin fibroblasts, compatible with Niemann-Pick type C.
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PMID:Niemann-Pick variant lipidosis presenting as "neonatal hepatitis". 372 74


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