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 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

Eight cases of acute human herpesvirus type 6 (HHV6) infection in infants were diagnosed serologically by the demonstration of IgM anti-HHV6 (8/8) and a significant change in total anti-HHV6 antibody titre (6/8). Four infants were sufficiently ill to require admission to hospital and further investigations: one with encephalitis and three with gross hepatosplenomegaly, two of whom had evidence of simultaneous infection with another herpes-virus. The remaining four infants had an illness compatible with roseola infantum, although this diagnosis had not been made clinically. Sera from two of those infants with rash had been sent for analysis to exclude rubella because the infants' mothers were pregnant. The other two had received antibiotics when febrile, and the subsequent appearance of the roseola rash had raised the possibility of antibiotic allergy. The data suggest that there are clinical syndromes in addition to roseola infantum associated with the presence of IgM anti-HHV6, in which serological screening for evidence of acute HHV6 infection may be useful.
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PMID:Roseola infantum and other syndromes associated with acute HHV6 infection. 217 78

A 19-year-old immunosuppressed male patient, after renal transplantation, developed at the 10th postoperative day (p.d.) fever, anemia hepatosplenomegaly and plaquetopenia; this condition deteriorated progressively and was complicated by drowsiness and generalized convulsions which persisted until the death at the 29th p.d. Autopsy revealed acute encephalitis characterized by multiple disseminated small lesions in the brain, containing cysts and trophozoites of Toxoplasma gondii. The diagnosis was not done during life, as occurred with most of previously reported cases, a fact that points to the necessity of preventive controlling measures of these patients before the institution of immunosuppressive measures.
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PMID:Cerebral toxoplasmosis after renal transplantation. Case report. 352 64

We conducted a retrospective survey of children who were born with congenital rubella syndrome (CR) resulting from a recent rubella epidemic. Sources of information were hospital and laboratory records and data collected in an active search for deaf children born following the epidemic and attending rehabilitation centers for the deaf (Micha). Criteria for inclusion in the survey were: 1) major clinical defects, and 2) one or more of the following positive laboratory findings--virus isolation, presence of rubella-specific IgM antibodies, or the presence of hemagglutination inhibition (HI) antibodies in children beyond the age of 1 year. Excluded from the study were 28 children with persistent HI antibodies, but without clinically detected defects. CR was identified in 45, among them 43 with deafness. Other major defects were psychomotor retardation, microcephaly, cataracts and heart defects. Transient abnormalities included encephalitis, hepatosplenomegaly, jaundice, thrombocytopenia, intrauterine grown retardation and failure to thrive. Thirty-one mothers (70%) reported a history of clinical rubella in pregnancy, the others having experienced subclinical infection. Multiple defects were found in children born following early gestational rubella (less than 2 months); abnormalities also occurred as a consequence of rubella as late as the fifth month of gestation.
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PMID:Congenital rubella in Israel following the 1978-79 rubella epidemic. 666 76

Infection with cytomegalovirus (CMV) in infants can be congenital or perinatal. Infected infants may be asymptomatic or present with pneumonia, rash, hepatosplenomegaly, or encephalitis.1 In the presence of an immunodeficiency, severe and sometimes fatal disease may occur. To our knowledge, CMV has not been identified previously as a cause of intractable diarrhea of infancy. We report the case of a 5-week-old immunocompetent infant with intractable diarrhea attributable to CMV-induced enterocolitis. Recognition of this infection and initiation of ganciclovir therapy was associated with a rapid improvement and resolution of the diarrhea.
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PMID:Intractable diarrhea from cytomegalovirus enterocolitis in an immunocompetent infant. 991 90

Previously reported enterovirus 71 (EV71) infections associated with hand-foot-mouth disease, aseptic meningitis, encephalitis, polio-like myelitis, and paralysis all have involved young children. We report a 28-year-old woman who possibly contracted EV71 infection during pregnancy. Obstetric ultrasonograms at 25 weeks of gestation revealed an abnormal placenta, as well as hepatosplenomegaly, liver calcification, excessive ascites, and mild hydrocephalus of the fetus. Presence of EV71 was determined by immunodot blotting, virus culture, and partial sequencing of the amplified product of nested reverse transcription-polymerase chain reaction. Postmortem immunohistochemistry further identified EV71 in the fetal midbrain and liver. The findings indicate that intrauterine EV71 infection is possible during pregnancy.
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PMID:Congenital enterovirus 71 infection: a case study with virology and immunohistochemistry. 1098 13

Haemophagocytic lymphohistiocytosis (HLH) is characterized anatomically by an infiltration of multiple tissues with lymphocytes and haemophagocytic histiocytes. First symptoms are usually hepatosplenomegaly, pancytopenia, and intractable fever. Up to 73% of those with HLH develop CNS involvement during the disease course. The peculiarity of the two patients presented here, a 20-month-old Italian female and a 4-year-old Moroccan female, is that the initial presenting neurological symptoms mimicked an encephalitis, anticipating the typical systemic symptoms by 1 and 4 months. They developed progressive encephalopathy accompanied by status epilepticus, one child developed a secondary hydrocephalus. In both children it was not possible to detect an underlying infection or malignant disease and there were no other cases in the family that suggested a familial form of HLH. Diagnosis and initiation of treatment was delayed because of the initial encephalopathic clinical picture and the late onset of the typical systemic features. As early diagnosis allows better therapeutical approaches, haemophagocytic lymphohistiocytosis should be considered in children with persistent or progressive findings of encephalopathy, especially in the absence of identification of a plausible pathogen.
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PMID:Acute encephalopathy as a primary manifestation of haemophagocytic lymphohistiocytosis. 1150 22

Mutations in the perforin gene cause familial hemophagocytic lymphohistiocytosis (FHL). The first symptoms of FHL are usually intractable fever, hepatosplenomegaly, and pancytopenia. Most FHL patients subsequently develop central nervous system (CNS) manifestations due to infiltration of tissues by activated lymphocytes and macrophages. We report 2 FHL patients with an atypical phenotype characterized by isolated severe neurologic symptoms mimicking chronic encephalitis and leading to an early death. Functional and molecular analyses revealed the same novel missense mutation in the perforin gene in both patients; this mutation affected the calcium-binding domain of the protein. This missense mutation did not affect perforin maturation or expression in cytotoxic cells but impaired in vitro cytotoxic activity. Diagnosis was delayed in both patients because of the initial neurologic expression and the normal expression of perforin in circulating lymphocytes. This emphasizes the importance of early diagnosis of this atypical form of FHL, as CNS involvement causes severe, irreversible encephalopathy. This observation also raises the question of the role of some mutations in the neurologic expression of FHL.
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PMID:Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity. 1559 8

Most infants exposed to cytomegalovirus (CMV) in utero will not be symptomatic; however, infants born with symptomatic CMV will have more severe consequences and poorer prognosis than will asymptomatic infants. The timing of infection during pregnancy largely affects the expected outcomes and consequences to the fetus. It is possible for a fetus to acquire congenital CMV infection from a nonprimary infection, although this accounts for a small number of cases. The presence of microcephaly, intrauterine growth restriction, petechiae, encephalitis, hepatosplenomegaly, and deafness are some of the physical characteristics of a congenital CMV infection. Treatment options remain limited at this time, so no routine screening has been recommended. The need for a vaccine or preventative treatment has been identified as a priority in the United States.
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PMID:The ABCs of CMV. 1804 51

Proliferation of the lymphoid system should arouse suspicion of a potentially serious illness. We present a 4.5-year-old boy who developed fever, vomiting, diarrhea, lymphadenopathy, hepatosplenomegaly, lymphocytosis, anemia, thrombocytopenia, and increased liver enzymes. Lymph node and bone marrow biopsies showed lymphoproliferation, Epstein-Barr virus (EBV) infection, and hemophagocytosis leading to the diagnosis of hemophagocytic lymphohistiocytosis (HLH). Chemotherapy was initiated for HLH with dexamethasone, etoposide, and cyclosporine. Because of a high level of EBV viremia, rituximab was added a few days later and resulted in a remarkable drop in the EBV in the circulation but not in the cerebrospinal fluid. However, the patient succumbed to encephalitis, pneumonia, and cardiopulmonary failure. Autopsy revealed the presence of EBV in the brain, indicating the ineffectiveness of rituximab therapy in treating central nervous system infection with EBV.
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PMID:A boy with fever, lymphadenopathy, hepatosplenomegaly, and lymphocytosis. 1843 Mar 21


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