Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Visceral larva migrans (VLM) most commonly occurs as a febrile disease of childhood particularly affecting children between 1 and 7 years of age. Pulmonary, dermatological, hepatic, lymphatic, cardiac, rheumatological and neurological manifestations may occur. VLM seems to be a rare disease in adults. We report the imaging findings of a woman with hepatic toxocariasis. Ultrasonography showed a solitary hepatic lesion measuring 4 x 3 cm, displaying a hypoechoic-heterogeneous pattern with ill-defined borders and distal acoustic enhancement, located in the right sub-diaphragmatic area. Two enlarged periportal lymph nodes and moderately dilated intrahepatic biliary ducts were also noted. The probability of toxocariasis was discussed, based on sonographic and biopsy findings, and the final diagnosis was confirmed by a specific ELISA test. In summary, a clinical picture of cholestasis initially resembling hepatitis or malignancy should be further evaluated by imaging techniques, and the ultrasound examiner should be familiar with the possible findings of hepatic toxocariasis, which consist of focal ill-defined hepatic lesions, hepato-splenomegaly, biliary dilatation, sludge and periportal lymph node enlargement.
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PMID:Hepatic toxocariasis: US, CT and MRI findings. 1612 29

Epstein-Barr virus (EBV) is a herpesvirus whose only reservoir host is the human. It is transmitted by oropharyngeal secretions. Primary EBV infection is usually asymptomatic, but sometimes it causes infectious mononucleosis with fever, lymphadenopathies, splenomegaly and pharyngitis. Acute infection is diagnosed by serology (heterophile or specific antibodies). Immunofluorescence and molecular biologic techniques may be used to demonstrate the presence of EBV in biopsy specimens. Mild and transient elevations of serum aminotransferases are common, thus liver biopsy is usually not necessary to confirm the diagnosis. Severe cholestasis is rare (5%). We describe a patient with cholestatic hepatitis and acute EBV infection with atypical lymphocytes and positive anti-VCA IgM. The patient had taken drugs (ibuprofen, paracetamol and valerian). The bad evolution of the patient, the history of exposure to drugs, and the few cases of cholestatic hepatitis due to EBV infection reported, led us to consider liver biopsy. Molecular biologic techniques confirmed the presence of EBV in liver tissue however histologic features did not exclude the toxic aetiology or the concomitant effect of drugs and EBV infection.
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PMID:[Epstein-Barr virus infection and acute cholestatic hepatitis]. 1713 11

Significant hyperbilirubinaemia, anemia, and splenomegaly are common features in patients with severe haemolysis due to pyruvate kinase (PK) deficiency. Until now, severe neonatal PK deficiency has not been associated with fatal liver disease at this age. We present two neonatal cases of severe PK deficiency complicated with progressive fatal liver disease. The patients presented with severe haemolysis, progressive cholestasis, and hepatosplenomegaly, and both patients ultimately developed liver failure at a very young age. Despite extensive investigations, no specific explanation for liver disease and failure was found. We suggest that the PK deficiency itself directly led to liver dysfunction.
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PMID:Pyruvate kinase deficiency associated with severe liver dysfunction in the newborn. 1765 6

The non-random association of Gaucher disease with polyclonal and monoclonal gammopathy has been known since 1950. The effect of treatment on monoclonal gammopathy is not well documented. We report on the long-term evolution of a biclonal gammopathy in a patient with type I Gaucher disease who was treated with splenectomy and enzyme replacement therapy. A 44-year-old man presented with hepatomegaly and massive splenomegaly. Bone marrow aspirate contained typical Gaucher cells and beta-glucosidase was low in peripheral blood leukocytes. Mutations N370S and R120W were detected. Serum protein electrophoresis disclosed two spikes in gammaglobulins. Immunofixation identified two monoclonal components: IgG kappa and IgA kappa. Gammaglobulin concentration was 31.6 g/L. A splenectomy was performed on September 2003 because of massive splenomegaly (9500 g). Two months after the splenectomy, gammaglobulin concentration was 25.2 g/L. Enzyme replacement therapy (Cerezyme 45 UI/kg every two weeks) was prescribed from April 2004 because of significant hepatomegaly and cholestasis. In April 2007 (3 years after the beginning of treatment), serum electrophoresis showed the persistence of two spikes with gammaglobulin concentration at 20.5 g/L. Simultaneously, chitotriosidase activity decreased from 6181 to 2877 nkat/L. Our observation and previous reports suggest that enzyme replacement therapy is more effective in polyclonal hypergammaglobulinaemia than in monoclonal gammopathy.
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PMID:Effect of treatment on biclonal gammopathy associated with Gaucher disease. 1787 46

Inducible nitric oxide synthase (iNOS) activity is significantly elevated in viral hepatitis, alcoholic cirrhosis, and cholestasis. However, there are few reports on the relationship between iNOS and cirrhosis. Here, we investigated the effects of a new iNOS inhibitor that has been developed for oral administration in an experimental rat liver cirrhosis model. A cirrhotic rat model was developed by long-term administration of thioacetamide injections. FR260330 is a new, rationally designed, selective iNOS inhibitor that can be administered orally. After 12 weeks of treatment with FR260330, the rats showed inhibition of progressions of cirrhosis, ascites, and splenomegaly as well as a significant reduction in the proportions of connective tissue in the liver. The expression of nitrotyrosine, which indicates the existence of peroxynitrite and nuclear factor-kappaB activation, was remarkably decreased in the FR260330 treatment group. In addition, immunohistochemical and Western blot analyses showed that the expression of transforming growth factor-beta1 was remarkably decreased in this group. The present study demonstrates that FR260330 reduces liver fibrosis by the inhibition of transforming growth factor-beta1 and retards the development of cirrhosis. This oral iNOS inhibitor will be a new strategy for the treatment of cirrhosis.
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PMID:New strategy for the antifibrotic therapy with oral administration of FR260330 (a selective inducible nitric oxide synthase inhibitor) in rat experimental liver cirrhosis. 1802 37

Here we report a case of a 25-year-old woman with mesenteric and hepatic sarcoidosis without lung involvement complicated by severe noncirrhotic portal hypertension. In 1992, at the clinical presentation, she had abdominal pain, asthenia, and weight loss. Splenomegaly, signs of flogosis, sideropenic anemia, and cholestasis were observed. Laparoscopic abdominal exploration and histological analysis demonstrated noncaseating granulomas of the liver, abdominal lymph nodes, and mesenteric connective tissue. The clinical course was severe with episodic remissions and recrudescences characterized by ascites (mild or moderate), elevation of bilirubin levels (mean: 1.1 mg/dl; range: 0.9-3.5 mg/dl), reduction of albumin levels (mean: 4 g/dl; range: 3.4-4.2 g/dl), and prolongation of elevated international normalized ratio (mean: 1; range: 0.9-1.4). In 1997, the patient had variceal bleeding. Complete hemostasis was obtained with band ligation. Liver function was preserved, and until 2000 the disease remained stable. In 2001, the patient became pregnant. At the 36th week of gestation, the patient delivered a healthy female infant and afterwards remained in clinical remission. This report stresses that sarcoidosis can have a hepatic and mesenteric involvement in absence of thoracic lymphadenopathy. Portal hypertension may be severe, and in absence of cirrhosis it may be associated with portal thrombosis. Finally, portal hypertension in patients with hepatic sarcoidosis and preserved liver function should not be considered as an absolute contraindication to pregnancy.
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PMID:Hepatic and mesenteric sarcoidosis without thoracic involvement: a case of severe noncirrhotic portal hypertension and successful pregnancy. 1878 74

We present a case of a 17-year-old man with first-episode schizophrenia who developed olanzapine-induced hepatitis, cholestasis, and splenomegaly, all of which were reversed after ceasing olanzapine. Clinicians prescribing olanzapine should be aware of this possible hepatotoxicity. Patient education, vigilance from clinicians, and careful clinical examination can help detect this complication early.
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PMID:Possible olanzapine-induced hepatotoxicity in a young Chinese patient. 1980 1

Niemann-Pick type C disease (NPC) is a rare, neurovisceral, autosomic recessive, lysosomal lipid storage disorder associated with impaired intracellular lipid trafficking leading to accumulation of cholesterol and glycosphingolipids in the brain, the liver, the spleen and also the lung. NPC has a very heterogenous clinical presentation from perinatal period to adulthood. The perinatal presentation is visceral. In the early-infantile, late-infantile and juvenile period, a wide range of aspecific and progressive neurologic symptoms varies according to the age at onset, but four signs have a great diagnostic value : prolonged neonatal cholestasis, splenomegaly, cataplexy and vertical supranuclear gaze palsy. The diagnosis confirmation requires a fibroblast culture and molecular genetic testing of NPC1 and NPC2 genes. The recent approval of a specific treatment, reducing neurological disease progression, makes essential an early diagnosis of NPC.
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PMID:[Niemann-Pick type C disease: clinical presentations in pediatric patients]. 2062 Aug 95

Neonatal lupus erythematosus (NLE) is characterized by the transplacental passage of maternal anti-Ro and/or anti-La antibodies and characteristic illnesses in the foetus/neonate. Most attention has focused on the most serious complication- cardiac involvement. This article will focus on non-cardiac involvement. Skin involvement (cutaneous NLE) is present in 15-25% of children with NLE. The rash of NLE tends to be photosensitive but may be present at birth or in non-sun exposed areas. It is most frequently seen around the eyes, not in the malar area, but also occurs in other parts of the body. The pathology resembles the rash of subacute cutaneous lupus erythematosus. Anti-Ro antibodies are present in >95% with the remaining mothers having anti-U1RNP antibodies only. Asymptomatic elevation of liver function tests, which may be associated with evidence of cholestasis, is seen in 10-25% of cases of NLE. Mild hepatomegaly and less commonly splenomegaly may be present. Liver involvement seen in isolation or associated with other features. The pathology resembles idiopathic neonatal giant cell hepatitis. Any haematological lineage, neutropenia and thrombocytopenia most commonly, may be affected by NLE. Haematological involvement is almost always asymptomatic. There are protean manifestations of neurologic involvement in NLE: hydrocephalus, non-specific white matter changes, calcification of the basal ganglia and a 'vasculopathy'. The most unusual feature of NLE is the radiographic finding of stippling of the epiphyses (chondrodysplasia punctata). Overall, non-cardiac involvement of NLE is more common than cardiac. The study of these manifestations may lead to new insight into how autoantibodies lead to disease.
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PMID:Non-cardiac manifestations of neonatal lupus erythematosus. 2069 19

In adults, elevated transaminases and hepatomegaly, often mild, with moderate to massive idiopathic splenomegaly might hint to a lysosomal storage disease (LSD). In most of these cases, hepatosplenomegaly does not eventually lead to cirrhosis, hepatocellular carcinoma or cholestasis. Nevertheless, the hepatic clinical findings might be the incentive for the patient to present at the physician's office. Many of the currently known >50 lysosomal storage diseases might manifest in liver: out of these, the most important ones in adults are: Gaucher disease, cholesterol ester storage disease (CESD) and the Niemann-Pick diseases. An increase of plasma chitotriosidase should alert the physician for the presence of an LSD. For Gaucher's disease, enzyme supplementation and substrate deprivation constitute effective therapeutic options. Fabry's disease, the most prevalent lysosomal storage disease, does usually not affect the liver, but causes painful episodes of hands' or feet pain (acroparesthesias), left ventricular hypertrophy, renal failure, early stroke and decreased life expectancy. The emerging advent of effective therapeutic options and the cumulative prevalence of lysosomal storage diseases urge the hepatologist to add these diagnostic pathways to the clinical repertoire.
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PMID:Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly. 2095 64


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