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 male infant infected in utero with EBV clinically presented after birth with dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas, metaphysis of the long bones, anemia, hyperbilirubinemia and elevated serum transaminases, lymphocytosis and thrombocytopenia. Malformations were absent. Specific serologic studies suggested congenital EBV infection in the newborn infant and primary EBV infection in the mother. Other known congenital infections could be excluded.
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PMID:[Congenital Epstein-Barr virus infection]. 839 41

We report an infant with autoimmune neutropenia (AIN), idiopathic thrombocytopenia (ITP), and IgG2/IgA deficiency. The patient was referred to our hospital at 5 months of age because of epistaxis and generalized petechiae. Physical examination revealed moderate hepatosplenomegaly. A complete blood count revealed a platelet count of 2.0 x 10(3) cells/microliters, and a white cell count of 3,600 cells/microliters, with severe neutropenia (less than 1% bands and segmented cells). Neutrophils and platelets adhering to megakaryocytes were decreased in the bone marrow. Tests for serum neutrophil-binding IgG (NB-IgG) and platelet-associated IgG (PA-IgG) were positive. A diagnosis of both AIN and ITP was made and therapy with intact-type gamma-globulin and prednisolone was initiated. Improvement occurred, but was temporary. A lack of serum IgA and IgG2 was noted during the clinical course. The patient has not been susceptible to bacterial infections but has had a severe clinical course with rubella and chickenpox.
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PMID:An infant with both autoimmune neutropenia and idiopathic thrombocytopenia with IgG2/IgA deficiency. 847 60

We describe two patients with mevalonate kinase deficiency and prominent hematologic abnormalities and cholestatic liver disease. Patient R.B. was not anemic at birth, but developed petechiae and cutaneous extramedullary hematopoiesis, hepatosplenomegaly, leukocytosis, and recurrent febrile events without positive bacterial or viral cultures. Patient N.M. manifested minor anomalies, hepatosplenomegaly, anemia, thrombocytopenia, recurrent febrile crises, and facial rashes. Mevalonic aciduria was found by urinary organic acid analysis, and mevalonate kinase deficiency was documented in both. The clinical spectrum of normocytic hypoplastic anemia, leukocytosis, thrombocytopenia, and abnormal blood cell forms led to diagnoses of congenital infection, myelodysplastic syndromes, or chronic leukemia in these patients before recognition of mevalonate kinase deficiency. Mevalonate kinase deficiency represents a single-gene abnormality that may be associated with significant hematologic findings. Recognition of the variability of this disorder with some patients manifesting only mild neurologic findings, yet significant hepatosplenomegaly, normocytic anemia, thrombocytopenia, and leukocytosis is important for all specialists who need to be aware of this organic aciduria.
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PMID:Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency. 971 5

A 9-month-old boy had bruising and petechiae. Investigation revealed a Coombs-positive hemolytic anemia and immune-mediated thrombocytopenia. The infant was treated with intravenous immunoglobulin and steroids. The infant eventually had recurrent fevers, hepatosplenomegaly, pulmonary nodules, and parenchymal central nervous system (CNS) lesions develop. Results of a lung biopsy revealed a polyclonal lymphoproliferative disease. Polymerase chain reaction analysis showed the presence of the Epstein-Barr (EB) viral genome in the lung nodules. The infant died from progressive lung disease 6 months after the initial symptoms of Evans syndrome. Lymphoproliferative disease is known to occur in a variety of settings after immunosuppression, especially in solid organ transplant recipients. We report a case of polyclonal lymphocyte proliferation in a patient with Evans syndrome.
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PMID:Fatal lymphoproliferative disease as a complication of Evans syndrome. 1103 62

Two children with systemic-onset juvenile chronic arthritis (S-JCA) suffering from severe, symptomatic thrombocytopenia are reported. Case 1 is a 10-year-old girl who had fever, chronic polyarthritis and hepatosplenomegaly for 6 months and severe gum bleeding and generalised petechiae for 1 week. Immune thrombocytopenic purpura (ITP) was indicated by bone marrow findings of megakaryocytic hyperplasia, and her thrombocytopenia responded well to steroid therapy without recurrence, but progressive, deforming polyarthritis with anaemia and thrombocytosis persisted. Case 2 is a 7-year-old girl who presented with spiking fever, arthritis and skin rashes and was suspected of having S-JCA. She developed a severe nosebleed with impending shock while receiving full-dose aspirin. Pancytopenia and elevated liver enzymes were also noted. Bone marrow aspiration revealed erythroid hyperplasia, maturation arrest of myeloid series with increased blasts, and adequate megakaryocytes. Her thrombocytopenia resolved in 1 week without specific treatment. Her subsequent clinical course confirmed the diagnosis of S-JCA, while thrombocytopenia did not recur during follow-up.
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PMID:Thrombocytopenia in systemic-onset juvenile chronic arthritis: report of two cases with unusual bone marrow features. 1120 51

In 2 infants, a girl and a boy, congenital viral infection was diagnosed in the neonatal period. The prenatal examination (serologic investigation for Toxoplasma gondii, rubella virus, cytomegalovirus, herpes simplex virus and syphilis (TORCHES)) was negative. In both cases prenatal ultrasonography was abnormal and suggested intrauterine infection. The infants were born with typical symptoms of multisystem disease, known as symptomatic congenital cytomegalovirus infection (jaundice, petechiae, hepatosplenomegaly, intrauterine growth retardation, microcephaly and cerebral calcifications) and congenital rubella syndrome (intrauterine growth retardation, congenital heart disease, cataract, hepatosplenomegaly and cerebral calcifications), respectively. Both had severe cerebral damage. To diagnose severe congenital infection in the first trimester of pregnancy in presence of congenital anomalies in utero there are other possible methods than TORCHES investigation, such as polymerase chain reaction and virus culture in amniotic fluid or in foetal blood obtained by cord puncture.
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PMID:[Congenital infection: diagnostic serology of the mother not always definitive]. 1121 56

This document is about a serious congenital CMV case in a 36 weeks' gestation female newborn with intrauterine growth retardation delivered by cesarean section whose mother was drug addicted. At birth the newborn showed petechiae and bloody blisters all over the body, serious hepatosplenomegaly and microcephaly. Laboratory tests showed thrombocytopeny (platelets count 24.000/mm3) requiring platelets and fresh frozen plasma transfusions during stay in the hospital; echoencephalography showed brain cyst in occipital area, dilated ventricles and calcification in the periventricular area; cardiac echography showed congenital cardiopathy with ventricular and atrial septal defect and patent ductus arteriosus. Urinary presence of CMV-DNA and then CMV-DNA in maternal blood and milk were found. The newborn was given 4 days of endovenous iperimmune immunoglobulin, but the treatment with ganciclovir was impossible for her serious hepatopathy. The newborn was discharged at 45 days and followed monthly with a day hospital program. Now she's 10 months old and she has serious neuromotory problems with left emiparesis and she's following a program of neuromuscular re-education at our hospital.
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PMID:[Symptomatic congenital cytomegalovirus infection: report of a clinical case with very severe onset]. 1142 45

A newborn baby, with transient pancytopenia concurrent to Echovirus type 11 infection, was hospitalized for fever, diarrhea, rash, generalized petechiae and hepatosplenomegaly. Subsequent investigation showed bone marrow failure. To our knowledge this is the first reported case of bone marrow failure with concomitant enteroviral infection.
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PMID:Bone marrow failure with concurrent enteroviral infection in a newborn. 1146 51

We report on a female neonate with severe onset of congenital cytomegalovirus (CMV) infection. She was noted to have cerebral ventriculomegaly on antenatal ultrasound, and presented with petechia after birth. Laboratory tests revealed severe thrombocytopenia (platelet count, 11,000/mm3) and hypoglycemia (serum glucose level, 5 mg/dl). Hepatosplenomegaly with elevated hepatic enzymes, retinitis, conjugated hyperbilirubinemia, and diffuse brainstem anomaly were also found in subsequent examinations. The diagnosis was confirmed by positive CMV-IgM from serum and the isolation of CMV from a urine sample. The patient received intravenous ganciclovir and human anti-CMV immunoglobulin during admission. She was discharged at the age of 61 days and followed-up monthly at our clinics. Symptoms and signs subsided except for mild cerebral ventriculomegaly at her last visit. We demonstrate a successful treatment with the combined use of ganciclovir and anti-CMV immunoglobulin.
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PMID:Clinical experience with ganciclovir and anti-cytomegalovirus immunoglobulin treatment for a severe case of congenital cytomegalovirus infection. 1271 90

Cytomegalovirus (CMV) is the most common congenital infection in humans. Congenital CMV infection can follow either a primary or recurrent maternal infection, but the likelihood of fetal infection and the risk of associated damage is higher after a primary infection. Approximately 90% of congenitally infected infants are asymptomatic at birth. Jaundice, petechiae, and hepatosplenomegaly are the most frequently noted clinical triad in symptomatic infants. More frequent and more severe sequelae occur in symptomatic infants, notably psychomotor hearing loss and retardation. Congenital CMV infection can be diagnosed by isolation of the virus from the urine or saliva within the first three weeks of life. Rapid diagnosis can be accomplished by detection of CMV DNA by DNA amplification or hybridization techniques.
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PMID:Congenital cytomegalovirus infection. 1274 81


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