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 encountered seven children with symptomatic congenital cytomegalovirus (CMV) infection from 1988 to 1995, of whom two (28.6%) developed typical autistic disorder. Case 1: A boy born at 38 weeks' gestation with a birth weight of 3164 g showed generalized petechiae, hepatosplenomegaly, and positive serum CMV-specific IgM antibodies. He was profoundly deaf, mentally retarded, and exhibited a lack of eye contact, stereotyped repetitive play, and hyperactivity. Case 2: A boy delivered at 39 weeks gestation with a birthweight of 2912 g showed non-progressive dilatation of the lateral ventricles observed postnatally. CMV-specific IgM antibodies were positive and CMV-DNA in the urine was confirmed by PCR. The boy was mentally retarded but not deaf. He showed no interest in people and delayed speech development. Subependymal cysts were detected by cranial ultrasound after birth in both patients. This is the first report describing subependymal cysts and the later development of AD. Cranial magnetic resonance imaging revealed an abnormal intensity area in the periventricular white matter suggestive of disturbed myelination; however, no migration disorders were found in our patients. These findings suggest that the timing of injury to the developing brain by CMV may be in the third trimester in some patients with autistic disorder.
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PMID:Possible association between congenital cytomegalovirus infection and autistic disorder. 1295 25

A 65-year old female, who had been suffered from rheumatoid arthritis, was admitted to our hospital because of fever, oral ulcers, perianal skin ulcers, petechiae in the both legs, hepatosplenomegaly and cervical lymphadenopathy. Her laboratory data showed severe anemia, leukocytopenia, and thrombocytopenia as well as low PT activity, prolonged APTT, decreased fibrinegen and elevated FDP. In addition to raised values of liver enzymes and triglyceride, marked elevation of several cytokines were found. IgM and IgG class antibodies to cytomegalovirus were demonstrated positive and their titers were 2.60 and 938.0, respectively. The study for the aspiration of bone marrow revealed hemophagocytosis of erythrocytes, leukocytes and thrombocytes. Based upon these findings, she was diagnosed as having hemophagocytic syndrome associated with cytomegalovirus infection. Steroid treatment inducing mini-pulse therapy was introduced to her and bought full recovery from the illness. The association of hemophagocytic syndrome to rheumatoid arthritis was reviewed in the literature and five cases were documented to have good prognosis with steroid treatment.
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PMID:[Hemophagocytic syndrome associated with hypercytokinemia in a patients with rheumatoid arthritis]. 1459 65

A female baby with a severe thrombocytopenia at 18 x 10(9)/l was born to a 29-year-old (gestation 2/partum 2) mother. Scattered petechiae were present on her legs, arms, chest and face, but there was no bleeding, infection, fever or hepatosplenomegaly. A platelet antibody screening immunocapture test was positive, which was performed on the mother's serum 3, 12 and 38 days after delivery, but no platelet-specific antibodies were found by the monoclonal-antibody-specific immobilization of platelet antigen assay. The baby's platelets and lymphocytes and the father's platelets reacted strongly with the HLA antibodies present in the mother's serum. The neonate was treated with intravenous human immunoglobulin (Tegeline), 1 g/kg per day) 1, 2 and 3 days after delivery. The platelet count rose from 18 x 10(9)/l on day 0 to 37 x 10(9)/l on day 3 and to 227 x 10(9)/l on day 12. No platelet transfusion was needed. Several factors which developed hereafter lead us to think that this neonatal alloimmune thrombocytopenia is due to the transplacental passage of maternal HLA antibodies to the baby.
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PMID:HLA antibodies and neonatal alloimmune thrombocytopenia. 1515 14

PRESENTING FEATURES: An 18-year-old white man was admitted to the Osler Medical Service with the chief complaint of back pain. Two weeks prior to admission, the patient developed diffuse and aching upper back pain. Over the next couple of days, he also developed severe anterior chest pain that was somewhat pleuritic in nature but diffuse and extending bilaterally into the shoulders. One week prior to admission, he developed intermittent fevers and night sweats. The patient denied any lymphadenopathy, pharyngitis, sick contacts, shortness of breath, rash, or bleeding. He was seen by a physician and told that he had thrombocytopenia. There was no history of recent or remote unusual bleeding episodes. His medical history was unremarkable except for a childhood diagnosis of attention deficit/hyperactivity disorder. He was not taking any medications and had no history of tobacco, alcohol, or illicit drug use. He had no risk factors for human immunodeficiency virus infection. Physical examination showed that he was afebrile and had normal vital signs. He was a well-appearing man who was lying still because of pain. HEENT examination was unremarkable. There was no pharyngeal erythema or exudates. His lungs were clear. His neck was supple and without lymphadenopathy. Examination of his back and chest revealed no focal tenderness. There was no hepatosplenomegaly, and his skin was without petechiae or rashes. Examination of the patient's joints showed pain on passive and active movement of his shoulders bilaterally, but no frank arthritis. There was no rash, petechiae, or echymoses. Chest radiograph and electrocardiogram were unremarkable. On admission, the laboratory examination was notable for a hematocrit level of 32.5%, with a mean corpuscular volume of 79 fL, and white blood cell count of 2.8 x 10(3)/microL. Platelet count was 75 x 10(3)/microL. A white blood cell differential revealed 7% bands, 53% polys, 34% lymphs, 5% atypical lymphocytes, 2% nucleated red cells, and a few young unidentified cells. His chemistry studies were unremarkable. What is the diagnosis?
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PMID:Cases from the Osler Medical Service at Johns Hopkins University. 1521 Mar 89

To understand a mechanism for the difference in clinical manifestations of congenital cytomegalovirus (CMV) infection between dizygotic twins, the placentas of the dizygotic twins were evaluated for the number of the cells infected with CMV by immunohistochemical and in situ hybridization studies. A Japanese woman with dizygotic twin pregnancy had immunoglobulin M antibodies to CMV at 15 weeks gestation. Intrauterine growth retardation was noted only in the first twin. At birth, CMV was isolated from urine culture in both twins. Clinical manifestations for CMV, such as petechiae, jaundice, hepatosplenomegaly, and deafness were more pronounced in the first twin than in the second twin. Immunohistochemical and in situ hybridization studies showed CMV-positive cells two or three times more densely distributed in the placenta of the first twin compared with the second twin. These data suggest the severity of CMV manifestations of dizygotic twins may be in accord with the number of CMV-positive cells in the placenta.
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PMID:Differential clinical manifestations of congenital cytomegalovirus infection between dizygotic twins: a case report. 1547 27

Seroconversion to cytomegalovirus (CMV) occurs in 1-4% of pregnant women. The majority of these women are seropositive prior to pregnancy. In 0.2-2.5% of the newborn infants, there is evidence of intrauterine infection, most of them are born without any clinical findings. The typical clinical symptoms of congenital CMV (symptomatic congenital CMV) that are found in 10-20% of infected neonates include intrauterine growth restriction (IUGR), microcephaly, hepatosplenomegaly, petechiae, jaundice, chorioretinitis, thrombocytopenia, anemia and/or other atypical findings. Of special problem are the different neurodevelopmental sequelae such as mental retardation, motor impairment, sensorineural hearing loss or visual impairment, which may occur even in infants who are free of symptoms at birth. Most infants born with severe neonatal symptoms of congenital CMV are born to mothers with primary infection in pregnancy. However, since over 60% of the infants infected in utero with CMV are born to mothers with preconceptional immunity who have secondary infection in pregnancy, and more and more studies show severe sequelae in these infants, we have to conclude that congenital CMV may be a significant problem even in children born to mothers with pre-pregnancy immunization. This may justify the use of invasive methods for the detection of possible fetal infection even in cases of secondary CMV infection. This also brings in an additional problem, when considering the need for proper immunization against CMV, as immunization is primarily aimed for women without immunity.
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PMID:Fetal effects of primary and secondary cytomegalovirus infection in pregnancy. 1658 Sep 41

Seroconversion to cytomegalovirus occurs in 1-4% of pregnant women, most of whom are seropositive prior to pregnancy. In 0.2-2.5% of their newborn infants there is evidence of intrauterine infection; most are born without any clinical findings The typical clinical symptoms of symptomatic congenital CMV are observed in 10-20% of infected neonates. They include intrauterine growth restriction, microcephaly, hepatosplenomegaly, petechiae, jaundice, thrombocytopenia, anemia, chorioretinitis, hearing loss and/or other findings. Long-term neurodevelopmental sequelae include mental retardation, motor impairment, sensorineural hearing loss and/or visual impairment. These may occur even in infants who are free of symptoms at birth. Most infants born with severe neonatal symptoms of congenital CMV are born to mothers with primary infection during pregnancy. However, since about half of the infants infected with CMV in utero, including those with severe neonatal symptoms, are born to mothers with preconceptional immunity, we have to conclude that congenital CMV may be a significant problem even in children born to mothers with pre-pregnancy immunization. This may justify the use of invasive methods for the detection of possible fetal infection even in cases of non-primary CMV infection. This should also be a consideration when deciding upon population screening or immunization for CMV.
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PMID:Fetal effects of primary and non-primary cytomegalovirus infection in pregnancy: are we close to prevention? 1759 85

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

The authors describe a Thai newborn boy who was presented with petechiae, hepatosplenomegaly and pancytopenia at birth caused by congenital HIV infection. His clinical presentations were appeared on the early onset after birth. The bone marrow finding has shown hypocellularity which was also rare in HIV-infected children.
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PMID:A neonate with petechiae and pancytopenia at birth as uncommon presentation of congenital HIV infection. 1925 14

The acquired form of pure red cell aplasia (PRCA) presents either as an acute self-limited disease, predominantly seen in children, or as a chronic illness more frequently seen in adults with rare spontaneous remissions. A 14-year-old boy presented with pallor, without hepatosplenomegaly, jaundice, lymphadenopathy, petechiae, or any other apparent abnormalities. Isolated anemia in the presence of normal white cell and platelet counts with a marrow of normal cellularity and absence of erythroblasts but normal myeloid cells and megakaryocytes revealed the diagnosis of PRCA. All possible investigations excluded secondary causes of PRCA. The patient required packed red cell transfusions every 2 to 3 weeks. He failed therapy with intravenous immunoglobulin, corticosteroids, cyclosporine A plus corticosteroids, antithymocyte globulin, anti-CD 20 (rituximab), and erythropoietin (EPO). He showed a severe, resistant, and transfusion-dependent PRCA. Spontaneous remission with normal hemoglobin and reticulocyte levels was dramatic 6.5 years after the diagnosis of PRCA and 3.6 years after his last treatment.
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PMID:Delayed spontaneous remission in a child with primary acquired chronic pure red cell aplasia. 2061 70


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