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 60-year-old man was admitted with general fatigue and jaundice of one year's duration in February, 1981. The hemoglobin (Hb) was 11.4 g/dl and reticulocytes were 1.7%. A diagnosis of chronic cold agglutinin disease (CCAD) was made from the presence of cold agglutinin (CA) 1:2,048, increased serum IgM 267 mg/dl and indirect bilirubin 1.4 mg/dl. His Hb was approximately 11 g/dl in summer and 9 g/dl in winter for the subsequent ten years without therapy. In July, 1990, he was readmitted because of exacerbation of anemia and hepatosplenomegaly. The Hb was 4.6 g/dl, indirect bilirubin 3. 1 mg/dl, CA titer 1:232,144 and reticulocytes were 20%. Serum IgM was 1,065 mg/dl, and immunoelectrophoresis showed IgM-kappa M-protein. Peripheral blood lymphoid cells expressed surface membrane immunoglobulin (SmIg) M and kappa. The bone marrow showed an increased number of lymphoid cells which also expressed SmIg M and kappa. These findings were compatible with those of the features of primary macroglobulinemia (PMG). The M-2 protocol resulted in decrease in serum IgM and CA, but he died of heart failure in February, 1991. The relationship between CCAD and PMG in relation to the pathogenesis was discussed.
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PMID:[Chronic cold agglutinin disease terminating in primary macroglobulinemia after a 10 year history]. 146 90

A 36-year-old male was admitted to the Ehime University Hospital with anemia, eosinophilia and hepatosplenomegaly. Peripheral blood examination demonstrated severe anemia (Hb 7.1g/dl), thrombocytopenia (Plt 6.8 x 10(4)/microliters) and increase of peripheral leukocyte counts (53,000/microliters) with 32.0% of eosinophils which had lobulated nuclei, abnormal distribution of eosinophilic granules and a few vacuoles. The level of serum IgE was low (< 5IU/ml), while that of serum vitamin B12 was elevated. A diagnosis of eosinophilic leukemia was made. He was noted to have spontaneous fluctuations in his eosinophil and total leukocyte counts. To analyze the mechanism of cyclic eosinophilic leukocytosis, we examined eosinophil colony stimulating activity of the serum and plasma of the patient. These examination showed that eosinophil colony-stimulating activity was not found in his serum and plasma, and cyclic eosinophilic leukocytosis was due to the hemopoietic stem cell disorder.
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PMID:[Eosinophilic leukemia with cyclic eosinophilic leukocytosis]. 147 3

Six infants with acute megakaryoblastic leukemia and a translocation (1;22)(p13;q13) were studied. There were five female infants and one male infant, and the age at initial examination varied from 0.8 to 6.5 months (median, 2.3 months). All the patients had hepatosplenomegaly and anemia (6 to 8.3 g/dL), and four patients had thrombocytopenia (9,000 to 63,000/mm3). The bone marrow showed prominent fibrosis in five cases and reticulin fibrosis in one patient at presentation. Crush artifact often made the histologic sections difficult to interpret, but typical megakaryoblasts could be identified in the smears. Biopsy specimens of the liver and lymph node were suggestive of a nonhematopoietic malignant condition because of the cohesiveness of the tumor cells, stromal fibrosis, and the prominent sinusoidal and vascular pattern of infiltration. Immunophenotyping of peripheral blood mononuclear cells was helpful in identifying the blasts as belonging to the megakaryoblastic lineage. Using a panel of mononclonal antibodies, it was also possible to confirm the nature of the infiltration in paraffin sections and to differentiate it from other childhood small round cell tumors, especially neuroblastoma in paraffin sections (typical staining pattern: CD45-, CD43+, vW Factor, Ulex europeus I+, CD20-, CD45RO-, synaptophysin-, chromogranin-, cytokeratin-, desmin-). This special type of infantile acute leukemia can be recognized with confidence if one is aware of its clinical features, peculiar pathologic characteristics, the morphologic features and immunophenotype of the megakaryoblasts, and the unique cytogenetic abnormality.
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PMID:Acute megakaryoblastic leukemia in infants with t(1;22)(p13;q13) abnormality. 151 33

Localized plasma cell type Castleman's disease (CD) is an unusual pathologic entity. It is frequently associated with clinical and laboratory characteristics and rarely occurs in children. Total surgical excision results in cure in all aspects. To make early diagnosis of mesenteric CD is not easy, especially for children. An 11-year-old Taiwanese boy was recently evaluated for anemia and delayed growth. His clinical findings included a syndrome of severe hypochromic microcytic anemia, neutropenia, thrombocytosis, hypoferremia, hypergammaglobulinemia, and growth failure. Radiological examinations (abdominal ultrasound, small intestinal series, and computerized tomography) identified hepatosplenomegaly, nephromegaly, and huge masses in the middle abdomen with precaval, celiac, and paraaortic lymph nodal enlargement. However, detailed physical examination failed to detect a mass. At laparotomy a double-fist-sized confluent mass was found arising from the mesenteric root. Most masses were discrete and were excised individually. The pathologic diagnosis was plasma-cell type angiofollicular lymph node hyperplasia (Castleman's disease). Seven weeks after surgery, he had an episode of acute hepatitis B. Postoperatively, he exhibited a dramatic growth spurt; the hemoglobin, red blood cell indices, serum iron, and immunoglobulins returned to normal in 2 months. Neutropenia, which has not been previously related to mesenteric CD, was an unexpected finding in our case; however, it resolved spontaneously 3 months after the surgery, suggesting its causal relationship with the tumor.
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PMID:New observations in a child with angiofollicular lymph node hyperplasia (Castleman's disease) originated from the mesenteric root. 151 Jan 96

One-hundred-and-fifty-seven children admitted with brucellosis at Abha, Saudi Arabia, were studied prospectively. Ninety-two per cent gave a history of animal contact, usually with sheep or goats, or ingesting raw milk, milk products, or raw liver. Three-quarters of the patients had an acute or subacute presentation with diverse symptomatology: fever (100 per cent), malaise (91 per cent), anorexia (68 per cent), cough (20 per cent), abdominal symptoms (20 per cent), arthralgia (25 per cent). Hepatomegaly (31 per cent), splenomegaly (55 per cent), and lymphadenopathy (18 per cent) were common findings. Organ complications were rare except for arthritis (36 per cent) which usually presented as a peripheral oligoarthritis involving the hips and knees. All patients had significant agglutination titres; B. melitensis was grown from the blood in 7 of 16 (44 per cent) patients. Haematological variations were common, but non-specific: anaemia (64 per cent), thrombocytopenia (28 per cent), leucopenia (38 per cent), leucocytosis (12 per cent), and elevated erythrocyte sedimentation rate (81 per cent). Varying combinations of rifampicin, co-trimoxazole, tetracycline, and streptomycin resulted in a prompt pyrexial response (mean: 3.8 days), and a slower response in the arthropathy and hepatosplenomegaly. Relapses were related to poor compliance, use of a single drug or a shorter duration of chemotherapy. Brucellosis is a common childhood problem in southwestern Saudi Arabia as in other parts of the country and the Middle East. It should be considered in every child from an endemic area presenting with a febrile illness and a history of animal contact.
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PMID:Childhood brucellosis in southwestern Saudi Arabia: a 5-year experience. 152 11

Metabolic studies are described in a patient who presented at 3 weeks of age with severe anaemia, hyperbilirubinaemia and hypotonicity. Clinically, glycogen storage disease type II (Pompe disease) was suspected because of a massively enlarged heart and hepatosplenomegaly. This was confirmed biochemically by the demonstration of glycogen accumulation in skeletal muscle and undetectable acid alpha-1,4-glucosidase activity in fibroblasts. Further biochemical studies in this patient surprisingly revealed homocystinuria and methylmalonic aciduria, suggesting a defect in the uptake, transport or intracellular metabolism of vitamin B12. Studies in cultured fibroblasts from the patient revealed a low uptake of [57Co]cyanocobalamin and an impaired intracellular conversion to both 5'-deoxyadenosylcobalamin and methylcobalamin. Moreover, the incorporation of labelled propionate into proteins as well as the formation of labelled methionine from labelled 5-methyltetrahydrofolate was deficient in fibroblasts from the patient. Complementation studies revealed the presence of the cblC mutation in this patient. No treatment was initiated and the patient died at the age of 31 days. We conclude that the patient was affected by both glycogen storage disease type II and cblC disease. The remarkable combination of these two rare inborn errors can be the result of the consanguinity of the parents.
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PMID:Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation. 153 54

This retrospective case review sought to report the findings of a health screening of 100 international adoptees. Included were the 1st 100 children who attended the Outpatient Inter-Country Adoption Clinic at the Royal Children's Hospital in Melbourne. A medical history was taken and a thorough physical examination and series of screening investigations were performed on all children. The children range in age from 2 months-16 years (median=5 months; mean=2.8 years). The countries most represented were Korea with 36 children and India with 21. 30 children fell below the 3rd Australian centile for both height and weight. Abnormalities on physical examination included hepatosplenomegaly (13 children), scabies (6), and severe dental caries (6). Parasitic infestation of the stools was found in 23 children, a positive Mantoux test result in 9 (3 with active tuberculosis), anemia in 12, elevated hepatic transaminase levels in 9, and positive hepatitis B surface antigen and e antigen in 2. I child had acquired syphilis. Screening for human immunodeficiency virus antibody gave negative results in all children. These international adoptees constitute a special pediatric subgroup which require assessment and screening as soon as possible after arrival in their adoptive country.
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PMID:Health screening of international adoptees. Evaluation of a hospital based clinic. 154 38

We report on a 8-month-old boy with AIDS, born of an asymptomatic mother with positive HTLV-III serology. He was hospitalized in the Intensive Care Unit because of anemia, fever and hepatosplenomegaly. Chest X-ray showed pneumonia and subsequent blood cultures were positive for Candida albicans. After 3 days of Amphotericin B treatment, the patient was transferred to Infectious Disease Department. After 30 days of hospitalization, the patient developed a rapid neurological impairment evolving into coma. CT scan showed a round, ring-shaped low density lesion with hyperdense and enhancing haemorrhagic centre in the left basal ganglia and a smaller hypodense lesion on the right. There was also evidence of cortical atrophy and mild ventricular dilatation. Such lesions are more commonly described in children with AIDS and congenital cytomegalic inclusion virus (CMV) encephalitis. In this case toxoplasma cysts were shown microscopically reinforcing the contention that in patients with AIDS, toxoplasma gondii infection may occur with atypical manifestation.
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PMID:An unusual CT presentation of congenital cerebral toxoplasmosis in an 8 month-old boy with AIDS. 159 15

A 57-year-old female presented with general fatigue. She had neither lymphadenopathy nor hepatosplenomegaly. Laboratory data revealed anemia and leukopenia (1,500/microliters) with a differential count of 4.5% leukemic cells. The myelogram revealed 34.4% leukemic cells, of which diameter ranged from 20 to 28 microns. The diagnosis was acute myelogenous leukemia (FAB: M2) with myelodysplasia. Cytogenetic analysis revealed that the leukemic cells had chromosome abnormalities involving both diploidy and tetraploidy with structural rearrangement. Structural rearrangement included del(5) (q22q33), del(15) (q22q24), and t(3; 12) (q25;p13). Small dose aclacinomycin-A treatment was effective in reducing the number of leukemic cells in bone marrow, and both anemia and leukocytopenia were improved.
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PMID:[Acute myelogenous leukemia transformed from myelodysplastic syndrome with tetraploid chromosome constitution]. 160 14

In the US and northern Europe, the prevalence of pregnant syphilitic women is estimated at .1-.6%, while in South Africa it was 7.6% in 1982. In 1978, there 108 cases in the US which increased to 268 reported cases in 1985. The increase of congenital syphilis (CS) by 25% from 1985 to 1988 was attributed to the spread of crack cocaine in the US. The rate was 10.5 cases/100,000 live births in the US during this period, a 21% increase. In contrast, in the Netherlands there were 2.5 cases/100,000 live births during 1982-85. Clinical symptoms appear 3 weeks after birth, but some are present at birth such as hepatosplenomegaly, bloated abdomen, cutaneous lesions, and nasal discharge turning into purulent rhinitis. Anemia occurs in 90% of children with CS. Generalized lymphadenopathy, splenomegaly with hepatomegaly, and syphilitic hepatitis may also occur. Syphilitic skeletal abnormalities include osteochondritis, periostitis, osteomyelitis, and osteitis. Meningovascular syphilis produces nervous system effects. CS complications include nephrotic syndrome and acute glomerulonephritis. Ocular abnormalities are caused by treponemes found in the cornea, sclera, uvea, retina and the optic nerve. Chorioretinitis and iridocyclitis are common ocular lesions. The pathogen Treponema pallidum can be diagnosed by dark field microscopy, by immunofluorescence, or by histopathological examination of silver-stained preparations. Pregnancy women with syphilis are treated with penicillin although failures have been reported after single or 2 or 3 in administrations of 2.4 MU benzathine penicillin and after giving tetracycline in 3rd trimester pregnancy. The CDC recommendation for treating infants with CS is iv 50,000 U/kg penicillin G every 8-12 hours for 10-14 days or im 50,000 U procaine penicillin once daily for 10-14 days. Single administration of 50,000 U/kg benzathine penicillin is recommended for newborn children whose mothers have been treated with erythromycin.
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PMID:Congenital syphilis. 161 61


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