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 3 6/12 years old girl with micromelic type of spondylo-meta-epiphyseal dysplasia combined with hepatosplenomegaly and muscular hypotonia is described.
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PMID:[Micromelic type of spondylo-meta-epiphyseal dysplasia (author's transl)]. 51 76

A 3-year-old Wisconsin native with the symptoms of chronic fever, hepatosplenomegaly, and inability to walk, was found to have an elevated anti-Brucella titer. Blood and bone marrow cultures grew Brucella melitensis, biotype 3. This infection was likely acquired during a trip to Mexico several months earlier during which the child had ingested raw milk. The patient's father was also discovered to have brucellosis. Both were successfully treated with antibiotic therapy. Although brucellosis has been almost totally eradicated in the United States, in the appropriate setting it should be considered as a possible cause of fever of unknown origin in a child.
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PMID:Brucellosis: an unusual cause of a child's fever of unknown origin. 272 70

A 3 years old girl presented with clinical feature of an acute hepatitis-like illness, with jaundice, hepatosplenomegaly, high alanine aminotransferase activity (ALT) and high gamma-globulin values. We were able to demonstrate high titre of anti-liver-kidney microsome antibodies type 1 (LKMA1) in the serum of this patient using immunofluorescence, ELISA (Enzyme-linked immunoabsorbent assay) and Western blot (WB) analysis. This observation together with the liver morphology and after excluding other possible causes of hepatitis established the diagnosis of chronic active hepatitis associated with anti-LKM1 antibody. Immunosuppressive therapy was therefore started immediately.
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PMID:Chronic active hepatitis associated with anti-liver-kidney microsome antibody type 1. 325 76

A 3-hour-old phenotypically normal girl was transferred to Children's Hospital Medical Center because of skin nodules, hepatosplenomegaly, and marked leukocytosis. The predominant cells in the blood, bone marrow, and dermis were monoblasts consistent with congenital leukemia. Known causes of leukemoid reactions were excluded. The infant received two double-volume exchange transfusions but no chemotherapy. As the white blood cell counts decreased, the monocytic cells became more mature, suggesting that the monoblasts had the ability to differentiate. The proliferative capacity of the marrow appeared to be normal as determined by the ability of marrow cells to form colonies in soft agar. Chromosomal analysis of bone marrow blasts including trypsin--Giemsa banding was normal. Three weeks after birth the patient's CBC and physical examination were normal, and the bone marrow was normal by 4 months of age. The patient has remained in remission for over 3 years.
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PMID:Spontaneous remission of presumed congenital acute nonlymphoblastic leukemia (ANLL) in a karyotypically normal neonate. 386 95

A 3-year-old male child with high fever, hepatosplenomegaly, pancytopenia, haemolysis, striking histiocytosis and hemophagocytosis in bone marrow aspiration and high titre of cold agglutinin is described. Cold agglutinins were defined as polyclonal IgM with anti-I specificity. Diagnosis of visceral leishmaniasis was made on the basis of typical Leishman-Donovan bodies found in the patient's bone marrow, high titre of anti-leishmania antibodies and excellent response to treatment. Visceral leishmaniasis must be considered in the differential diagnosis of diseases with histiocytosis. Cold agglutinin syndrome may contribute to the haemolytic process which exists in leishmania-donovani infection.
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PMID:Cold agglutinin syndrome and hemophagocytosis in systemic leishmaniasis. 671 46

A 3.5-year-old male Golden Retriever with lethargy, generalized lymphadenopathy, and hepatosplenomegaly was determined to have malignant histiocytosis, based on the morphologic appearance of neoplastic cells by light and electron microscopic examination, evidence of erythrophagocytosis, the presence of diffuse nonspecific esterase activity, and immunohistochemical demonstration of vimentin intermediate filaments. Because of the appearance of abundant iron stores in the bone marrow, serum was obtained for determination of iron, total iron binding capacity, and ferritin values. Serum ferritin concentrations were markedly increased. Measurement of serum ferritin concentrations may be useful in supporting a diagnosis of malignant histiocytosis, and the monitoring of serum ferritin concentrations may be useful for assessing treatment and regression of the disease.
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PMID:Hyperferritinemia associated with malignant histiocytosis in a dog. 782 79

A 3-month-old infant with HIV-1 infection who recently immigrated from Ethiopia developed regional lymphadenitis and systemic symptoms subsequent to BCG immunization. She was suffering from axillary lymphadenitis ipsilateral to the BCG vaccination site, failure to thrive, unresolving fever and hepatosplenomegaly. Acid-fast bacilli were seen on staining and Mycobacterium bovis was isolated from the regional lymph node. The infant responded promptly to triple antituberculous therapy but died 2 months later from overwhelming pneumonia and respiratory failure. This case emphasizes the iatrogenic hazards of BCG immunization in HIV-1 infected infants. With the increasing prevalence of pediatric HIV-1 infection, indiscriminate BCG immunization programs should be reconsidered. While infants with asymptomatic HIV-1 infection at risk for tuberculosis should be immunized, BCG immunization should be withheld in those with symptomatic disease.
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PMID:Mycobacterium bovis lymphadenitis complicating BCG immunization in an infant with symptomatic HIV-1 infection. 834 56

A 3-d-old neonate presented with fever, hepatosplenomegaly, coagulopathy, thrombopenia and anaemia. Secondary haemophagocytic lymphohistiocytosis was suspected, as persistent cytopenias were associated with hypofibrinogenaemia, haemophagocytosis in bone marrow and decreased NK cell. There was no positive family lymphohistiocytosis history or parental consanguinity. Bacterial investigation proved negative. The diagnosis of enterovirus maternofoetal infection was carried out. The infant's condition improved with symptomatic therapy from day 7. Follow up at 1 y was normal without relapse. This is the first report of a neonatal enteroviral infection that was responsible for excessive macrophage activation.
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PMID:Enterovirus-associated haemophagocytic syndrome in a neonate. 962 10

A 3-year-old girl with simultaneous presentation of hypertensive encephalopathy, subcutaneous nodules, hepatosplenomegaly and proteinuria was presented. The sarcoidosis was confirmed by histologic demonstration of non-caseating granulomas in the liver, left kidney, a cervical lymph node and subcutaneous nodules. The proteinuria resolved spontaneously. During the six-month period of steroid therapy, the renal mass and hepatosplenomegaly were dissolved but the cervical lymphadenopathy still persisted. The hypertensive state was difficult to control which required a multiple antihypertensive drug regimen.
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PMID:Pediatric sarcoidosis presenting with hypertensive encephalopathy. 980 92

A 3-year-old girl presented with hemolytic anemia, hepatosplenomegaly, ascites, and evidence of decompensated chronic liver disease. Genotypic DNA analysis revealed that the patient was homozygous for a splice site mutation now designated IVS4-1:G>C, expected to destroy completely the functional gene product of ATP7B, the gene responsible for Wilson's disease. We suggest that this severe mutation caused very early liver disease. Wilson's disease should be considered in the differential diagnosis of established liver disease in the preschool-aged child.
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PMID:Severe hepatic Wilson's disease in preschool-aged children. 1106 May 41


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