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)

We report the case of a 22-year-old woman who presented with acute onset flaccid quadriparesis. Physical examination showed mild pallor with cervical and axillary lymphadenopathy, hepatomegaly, and bilateral smooth enlarged kidneys. Neurological examination revealed lower motor neuron muscle weakness in all the four limbs with hyporeflexia and normal sensory examination. Laboratory investigations showed anemia, severe hypokalemia, and metabolic acidosis. Urinalysis showed a specific gravity of 1.010, pH of 7.0, with a positive urine anion gap. Ultrasound revealed hepatosplenomegaly with bilateral enlarged smooth kidneys. Renal biopsy was consistent with the diagnosis of non-Hodgkin lymphoma (B cell type). Metabolic acidosis, alkaline urine, and severe hypokalemia due to excessive urinary loss in our patient were suggestive of distal renal tubular acidosis. Renal involvement in lymphoma is usually subclinical and clinically overt renal disease is rare. Diffuse lymphomatous infiltration of the kidneys may cause tubular dysfunction and present with hypokalemic paralysis.
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PMID:Diffuse lymphomatous infiltration of kidney presenting as renal tubular acidosis and hypokalemic paralysis: case report. 1807 21

Pathological findings in the liver sinusoids are mostly caused by extrahepatic or systemic diseases. Unclear fever, hepatosplenomegaly, portal hypertension or a mild elevation of liver enzymes are reasons for a liver biopsy leading to path-breaking diagnoses. Reactive intrasinusoidal lymphocytosis, especially with Epstein-Barr virus infections, has to be differentiated from predominantly intrasinusoidal lymphoproliferative malignancies. Intrasinusoidal megakaryocytes can be the first sign of a myeloproliferative or myelodestructive disease. Intrasinusoidal carcinosis and melanomatosis might present radiologically without tumor lesions and are easily overlooked histologically, in particular, if the critical cells have a similar size to hepatocytes. This also applies for intrasinusoidal storing macrophages. Gaucher's disease type I, and some other subtypes of inborn storage diseases might present for the first time in adulthood by hepatomegaly and Kupffer cell hypertrophy. Accompanying perisinusoidal fibrosis and immunohistochemical staining (CD68) can help to detect the large pale intrasinusoidal macrophages. In immunocompromized patients with fever, particular attention must be paid to intracellular agents, especially atypical mycobacteria and yeasts in non-granulomatous nested or dispersed Kupffer cells. Leishmaniasis with amastigotes in macrophages is accompanied by reactive sinusoidal plasmocytosis.
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PMID:[Pathology along the liver sinusoids: intrasinusoidal findings]. 1821 Jan 15

Hepatosplenomegaly among Kenyan schoolchildren has been shown to be exacerbated where there is transmission of both Schistosoma mansoni and Plasmodium falciparum. This highly prevalent and chronic morbidity often occurs in the absence of ultrasound-detectable periportal fibrosis and may be due to immunological inflammation. For a cohort of school-age children, whole-blood cultures were stimulated with S. mansoni soluble egg antigen (SEA) or soluble worm antigen (SWA). Responses to SWA were found to be predominantly Th2 cytokines; however, they were not significantly associated with either hepatosplenomegaly or infection with S. mansoni or P. falciparum. In comparison, SEA-specific Th2 cytokine responses were low, and the levels were negatively correlated with S. mansoni infection intensities and were lower among children who were coinfected with P. falciparum. Tumor necrosis factor alpha levels in response to stimulation with SEA were high, and a negative association between presentation with hepatomegaly and the levels of the regulatory cytokines interleukin-6 and transforming growth factor beta(1) suggests that a possible mechanism for childhood hepatomegaly in areas where both malaria and schistosomiasis are endemic is poor regulation of an inflammatory response to schistosome eggs.
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PMID:Hepatosplenomegaly is associated with low regulatory and Th2 responses to schistosome antigens in childhood schistosomiasis and malaria coinfection. 1828 96

We describe some fetal ultrasound findings associated with intrauterine cytomegalovirus (CMV) infection. We report a 38-year-old gravida 3, para 2 at 16 weeks of gestation who underwent ultrasound examination for anomaly screening. The scan revealed an extensive irregular echogenic area in the fetal brain, especially at the level of lateral ventricles, suggestive of intraventricular and cerebral hemorrhage. Cardiomegaly, hepatomegaly, and mild ascites as well as an echogenic bowel were demonstrated. Abnormal chromosomes and hemoglobin Bart disease were excluded by analysis of fetal blood. Follow-up ultrasound at 20 weeks of gestation showed frank hydrops fetalis, and termination of the pregnancy was performed based on the couple's decision, giving stillbirth to a male fetus weighing 450 g. Autopsy findings showed intracerebral hemorrhage (right cerebral hemisphere) and hydrops fetalis with hepatosplenomegaly. Microscopic investigation showed typical changes of CMV infection in several organs, including brain, thyroid gland, lung, liver, kidney, heart, pancreas, and placenta. Sonographically, the combination of hydrops fetalis, cerebral hemorrhage, and hyperechoic bowel should raise the possibility of a CMV infection, particularly in cases with no obvious cause of hydrops fetalis.
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PMID:Fetal cytomegalovirus infection associated with cerebral hemorrhage, hydrops fetalis, and echogenic bowel: case report. 1841 74

An interpretation of historical, clinical, and laboratory data was made to identify the correlates of and the diversity between cerebral malaria (CM) and severe malarial anemia (SMA) in a setting of low, seasonal, and unstable malaria transmission in eastern Sudan. Hemoglobin (Hb), random blood glucose (RBG), and anti-MSP antibodies were measured. Results showed that SMA and CM were significantly different with regard to age, malaria history, fever duration, convulsions, and hepatosplenomegaly. The MSP Ab response was inversely correlated with the number of previous malaria episodes but not with fever duration in the current attack. The spleen size was significantly inversely correlated with Hb level while hepatomegaly was significantly associated with low RBG. Furthermore, two malaria patients presented with neuropsychiatric upset. Finally, the correlates of SMA and CM fit perfectly with an adopted severity numeric scoring.
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PMID:Severe malaria in an unstable setting: clinical and laboratory correlates of cerebral malaria and severe malarial anemia and a paradigm for a simplified severity scoring. 1900 25

Lysosomal acid lipase (LAL) deficiency results in Wolman disease and cholesteryl ester storage disease (CESD), a more benign form. CESD is a recessive disorder characterized by hypercholesterolaemia, hypertriglyceridaemia, low blood HDL and variable phenotype, while hepatomegaly is usually evident during childhood or adolescence. An 11-year-old girl was referred to our department for combined hyperlipidaemia (total cholesterol 323, triglycerides 259 mg/dl). All family members had normal lipid profile and liver function tests. At 8 years she was admitted for acute Epstein-Barr virus infection, with hepatosplenomegaly and elevation of liver enzymes. Liver-spleen enlargement resolved, but serum alanine aminotransferase and aspartate aminotransferase were persistently twice the upper limits, with other liver function tests within the normal range. Ultrasonography showed normal liver and spleen size and minimal hepatic steatosis. Infectious, autoimmune and metabolic causes of elevated liver enzymes were ruled out, including glycogen storage disease. Dysbetalipoproteinaemia was also ruled out (ApoE phenotype: E3E3). In the following 2 years the girl was symptom-free, BMI was at the 50th-75th centile for age and lipid profile was unchanged despite a low-fat diet. At 13 years of age, low acid lipase activity was demonstrated in leukocytes (10 nmol/h/ per mg protein, normal 140-380) and cultured skin fibroblasts (181 nmol/h per mg protein, normal 1100-2400), leading to diagnosis of CESD. CESD usually progresses to hepatic fibrosis, with high risk of premature atherosclerosis. CESD prevalence may be underestimated in the general population. The diagnosis may be considered in all subjects with atypical combined hyperlipidaemia (usually dominant in transmission or related to metabolic syndrome) and atypical 'fatty liver disease', in the absence of overweight.
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PMID:Combined hyperlipidaemia as a presenting sign of cholesteryl ester storage disease. 1921 73

Cholesteryl Ester Storage Disease (CESD) is a rare recessive disorder due to mutations in LIPA gene encoding the lysosomal acidic lipase (LAL). CESD patients have liver disease associated with mixed hyperlipidemia and low plasma levels of high-density lipoproteins (HDL). The aim of this study was the molecular characterization of three patients with CESD. LAL activity was measured in blood leukocytes. In two patients (twin sisters) the clinical diagnosis of CESD was made at 9 years of age, following the fortuitous discovery of elevated serum liver enzymes in apparently healthy children. They had mixed hyperlipidemia, hepatosplenomegaly, reduced LAL activity (approximately 5% of control) and heteroalleic mutations in LIPA gene coding sequence: (i) the common c.894 G>A mutation and (ii) a novel nonsense mutation c.652 C>T (p.R218X). The other patient was an 80 year-old female who for several years had been treated with simvastatin because of severe hyperlipidemia associated with low plasma HDL. In this patient the sequence of major candidate genes for monogenic hypercholesterolemia and hypoalphalipoproteinemia was negative. She was found to be a compound heterozygote for two LIPA gene mutations resulting in 5% LAL activity: (i) c.894 G>A and (ii) a novel complex insertion/deletion leading to a premature termination codon at position 82. These findings suggest that, in view of the variable severity of its phenotypic expression, CESD may sometimes be difficult to diagnose, but it should be considered in patients with severe type IIb hyperlipidemia associated with low HDL, mildly elevated serum liver enzymes and hepatomegaly.
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PMID:Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene. 1930 43

One hundred and one children with visceral leishmaniasis (VL) who admitted to Akdeniz University Hospital during a 20-year period were analyzed. Median age of the patients was 3 years (range: 5.5 months-13 years). The most common symptoms at presentation were fever, pallor and abdominal distension. Splenomegaly was found in all of the patients while hepatomegaly was present in 98%. Anemia (96%), leukopenia (74%) and thrombocytopenia (56%) were the main laboratory abnormalities. Thirty-three (33%) of the patients were pancytopenic on admission. Bone marrow smear was positive for leishmania in 91% of the patients. Seventy-four patients were treated with antimony +/- pentamidine and 27 with amphotericin B. Three of our patients died because of secondary infections and hemorrhage. Relapse was observed in two patients. No patient showed post kala-azar dermal leishmaniasis findings. We conclude that VL should be considered in patients with prolonged fever, hepatosplenomegaly and cytopenia who live in an endemic region. Amphotericin B is a therapeutic agent as effective as pentavalent antimony compounds and could be preferred.
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PMID:Visceral childhood leishmaniasis in southern Turkey: experience of twenty years. 1937 83

Gaucher disease (GD) is a lysosomal storage disorder characterized by anemia and thrombocytopenia, hepatosplenomegaly, and skeletal involvement. The management of Gaucher disease was improved by the development of enzyme replacement therapy (ERT). However, the bone response to ERT is generally slower compared to other clinical manifestations. Some have recommended the early use of ERT to prevent the development of severe skeletal complications. Because we have access to over 30 untreated patients in Ontario, we questioned the extent to which complications progress in severity over a long period of time. We examined retrospectively the natural history of GD and the extent of skeletal manifestations in 22 untreated type 1 GD adult patients (mean age, 49+/-3.3; range, 20-81 years). The patients were followed for a median of 9.5 years (range, 3-16 years). Hemoglobin (Hb) concentration did not significantly change over time (mean baseline concentration of 12.8+/-0.27 g/dL vs. mean recent concentration of 12.6+/-0.37 g/dL, p=0.65). Mean platelet count also remained relatively stable over time (mean baseline count of 138+/-13x10(9)/L vs. mean recent count of 138.5+/-18x10(9)/L, p=0.98). Mean ferritin and ACE concentrations were elevated and were stable over time. Liver volumes decreased over time (mean baseline liver volume of 1.2xnormal (N) vs. mean recent volume of 1.06xN, p=0.27) and 6 of 22 (27%) patients had moderate hepatomegaly (liver volume, 1.25-2.5xN). Spleen volumes remained stable over time (mean baseline spleen volume of 6.6xN vs. mean recent volume of 5.2xN, p=0.5). None of the changes was statistically significant. Four of 20 (20%) patients had moderate splenomegaly (spleen volume, 5-15xN), 2 of 20 (10%) had marked splenomegaly (spleen volume, >or=15xN), and 2 of 22 (9%) had had splenectomy. The most common skeletal manifestations were infiltration of the bone marrow in 16 of 22 (73%) patients followed by osteopenia in 15 of 22 (68%), Erlenmeyer flask deformity in 13 of 22 (59%), and infarctions in 6 of 22 (27%) patients. We observed that bone disease remained relatively stable over time in most patients, although three patients developed new infarcts over time, one developed an avascular necrosis (AVN), and four had an increase in the degree of osteopenia. Although GD and its skeletal complications progress in severity in some patients, our results suggest that GD complications, including bony disease, may stabilize over time. Therefore, early use of ERT may not be necessary in all type 1 GD patients.
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PMID:The clinical course of untreated Gaucher disease in 22 patients over 10 years: hematological and skeletal manifestations. 1979 65

Autoimmune lymphoproliferative syndrome (ALPS) is an uncommon nonmalignant lymphoproliferative disease which is characterized by chronic, persistent or recurrent lymphadenopathy, splenomegaly, hepatomegaly, immune cytopenia , hypergammaglobinemia and increased risk of lymphoma. We report a 2-year old boy with hepatosplenomegaly as first presentation. Petechial and purpuric rashes with massive cervical lymphadenopathies developed 10 months later.In laboratory tests anemia, thrombocytopenia and hypergammaglobinemia were observed. According to flocytometry increased double negative T cells and by apoptosis assay decrease apoptosis of lymphocytes accompanied clinical manifestations, thus diagnosis of ALPS was established. In conclusion; in all patients with massive lymphadenopathy and hepatosplenomegay; especially with cytopenia; ALPS should be considered.
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PMID:Autoimmune Lymphoproliferative Syndrome (ALPS) in a Boy with Massive Lymphadenopathy. 2095 9


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