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)

The article reports on a case of visceral leishmaniasis in a 3-year-old child of German residents in Rome who had passed two vacations on the isle of Ischia. Initial signs were intermittent temperatures, marked anorexia, hepatosplenomegaly and pancytopenia, with spontaneous recovery after three weeks. At that time, leishmania serology was already positive, whereas no leishmania were found in several bone marrow preparations despite a most thorough search. During the following eight weeks, the patient had chickenpox and mumps. During the mumps, relapse of the visceral leishmaniasis occurred, associated with a dramatic increase of the hepatosplenomegaly and recurring pancytopenia. It was only now that we could discover multiple leishmania infection of the bone marrow. Subsequent therapy with sodium stibogluconate (Pentostam) was effective without any complications, and eventually cured the patient.
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PMID:[Visceral leishmaniasis (Kala-Azar) in a 3-year-old German infant (author's transl)]. 22 40

Four Venezuelan patients with the autosomal recessive Chediak-Higashi syndrome (CHS) were studied. The results confirm the severe reduction in natural killer (NK) cell activity, as previously described and showed also a decline in the activity of cells involved in antibody-dependent cellular cytotoxicity (ADCC). No defect was found in the production of immunoglobulins and of specific antibodies to measles, varicella, herpes simplex, and cytomegalo viruses. Two of the patients had extremely high antibody titers to the Epstein-Barr virus (EBV) specific viral capsid antigen (VCA), to the restricted (R) component of the EBV-induced early antigen complex, and to the EBV-associated nuclear antigen (EBNA). These two patients had enlarged livers, spleens, and lymph nodes indicative of the lymphoproliferative phase. The other two patients were initially negative for all EBV-associated antibodies but seroconverted subsequently and, in the course of a year, also developed high antibody titers to VCA and R. In one of these patients the primary infection was accompanied by moderate signs of infectious mononucleosis (IM) followed after more than 6 months by persistent hepatosplenomegaly. The other patient also developed signs of a lymphoproliferative syndrome with hepatosplenomegaly and jaundice and died 8 months later. Such high anti-R titers are seen frequently in Burkitt's lymphoma, but rarely in other conditions. It is likely that the high antibody titers reflect an increased production of VCA and R due to defective NK and ADCC cell activities so that productively infected B lymphocytes are no longer eliminated before they have synthesized maximal amounts of antigens. The high anti-EBNA titers suggest normal T lymphocyte function. The possibility that the accelerated, lymphoma-like phase of the CHS involves EBV-transformed cells is discussed.
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PMID:Elevated antibody titers to Epstein-Barr virus and low natural killer cell activity in patients with Chediak-Higashi syndrome. 630 71

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

Lysinuric protein intolerance (LPI) is characterized by defective cellular transport of the dibasic amino acids, secondary dysfunction of the urea cycle, aversion to dietary protein, failure to thrive, hepatosplenomegaly and osteoporosis. Because several patients have suffered from recurrent respiratory infections and/or severe generalized varicella, and a few have developed systemic lupus, vasculitis or other autoimmune diseases, we have now evaluated the function of patients' immune systems. Serum concentrations of one to three IgG subclasses were decreased in 10 of the 12 patients studied. Antibody titres against diphtheria, tetanus and Haemophilus influenzae (Hib) were below the detection limit of the assay in four, three and eight of the 11 patients examined, respectively. (Re)vaccination of these 11 patients led to satisfactory responses against tetanus, but two patients still failed to develop measurable antibodies against diphtheria, two against Hib and six against one or more of the three serotypes of 23-valent pneumococcus vaccine. The proportions of T cells of all lymphocytes and the proliferative responses of the peripheral blood mononuclear cells were normal. In conclusion, humoral immune responses in some patients with LPI are defective and these patients may benefit from intravenous immunoglobulin therapy.
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PMID:B and T cell immunity in patients with lysinuric protein intolerance. 1036 Dec 30

We describe a 3 year-old male who presented with fever and cerebellar dysfunction after varicella. He developed transient hepatosplenomegaly, cytopenias, and progressive central nervous system involvement (coma, status epilepticus, and hydrocephalus). Despite normal initial cranial computed tomographic scan, diffuse swelling of the cerebellum with downward tonsillar herniation ensued. Diagnosis of hemophagocytic lymphohistiocytosis was difficult and delayed because of the relapsing course, and complete diagnostic criteria were not fulfilled at initial presentation. Central nervous system disease preceded the typical clinical picture of this disease; it dominated the clinical course and caused life-threatening complications and sequelae. The patient improved after treatment, according to the hemophagocytic lymphohistiocytosis protocol (HLH-94) of the Histiocyte Society, with dexamethasone, etoposide, and cyclosporine and unrelated cord blood stem cell transplantation. A mutation in the perforin gene confirmed the diagnosis of familial hemophagocytic lymphohistiocytosis.
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PMID:Near fatal cerebellar swelling in familial hemophagocytic lymphohistiocytosis. 1516 42

Ultrasound has an important role in the detection and follow- up of intrauterine infection. Viral infections are a major cause of fetal morbidity and mortality. Transplacental transmission of the virus, even in sub-clinical maternal infection, may result in a severe congenital syndrome. Prenatal detection of viral infection is based on fetal sonographic findings and PCR to identify the specific infectious agent. Most affected fetuses appear sonographically normal, but serial scanning may reveal evolving findings. Common sonographic abnormalities, although non-specific, may be indicative of fetal viral infections. These include growth restriction, ascites, hydrops, ventriculomegaly, intracranial calcifications, hydrocephaly, microcephaly, cardiac anomalies, hepatosplenomegaly, echogenic bowel, placentomegaly and abnormal amniotic fluid volume. Some of the pathognomonic sonographic findings enable diagnosis of a specific congenital syndrome (e.g., ventriculomegaly and intracranial and hepatic calcifications in cytomegalovirus or in toxoplasma; eye and cardiac anomalies in congenital Rubella syndrome; limb contractures and cerebral anomalies in Varicella Zoster virus). When abnormalities are detected on ultrasound, a thorough fetal evaluation is recommended because of multiorgan involvement.
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PMID:[Ultrasound in the evaluation of intrauterine infection during pregnancy]. 1984 36

We report two cases of type 1 Gaucher's disease in childhood and their outcomes after 9 years of enzyme replacement therapy. The first case concerns a 6-year-old boy who was diagnosed with Gaucher's disease after developing petechial exanthema, thrombocytopenia, anemia and hepatosplenomegaly, coinciding with chickenpox. The second case involves a 9-year-old girl who was referred to our unit. She had hepatosplenomegaly since 4-month-old and subsequently developed thrombocytopenia. Both patients have the N370S/L444P mutation. Enzyme replacement therapy was started with 60 U/kg imiglucerase every 2 weeks at the age of 6 and 9 years, respectively. In both patients, the therapeutic goals were achieved and maintained throughout treatment with a dose of 30 U/kg.
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PMID:[Clinical outcomes of 2 pediatric patients with Gaucher's disease in enzyme replacement therapy for 9 years]. 2223 Jan 25

A 33-year-old Chinese male patient with severe aplastic anemia received matched sibling allogeneic hematopoietic stem cell transplantation using antithymocyte globulin containing conditioning regimen after 4 months of unsuccessful treatment with cyclosporine A. Following transplantation, the patient was immunosuppressed demonstrated by intermittent infections, including a varicella 3 months after transplantation. Although DNA-STR results on day +30 confirmed complete donor engraftment, repeat DNA-STR analysis performed more than 3 months after transplantation showed a mosaic phenotype. Cyclosporine tapering commenced early, but the last DNA-STR result confirmed complete graft rejection. On day +198, the patient presented with fever, skin boil in the right temporal region, severe pancytopenia, intrabodominal lymphadenopathy and hepatosplenomegaly. Within 1 month, superficial lymphadenopathy and right exophthalmos developed. Excisional lymph node biopsy pathology confirmed Kaposi's sarcoma (KS). The patient succumbed due to intracranial bleeding as a result of thrombocytopenia. This is the first study of KS that developed following stem cell transplantation for severe aplastic anemia. The precipitating factors underlying KS development in this case and its differentiation from post-transplant lymphoproliferative disorders are analyzed.
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PMID:Kaposi's sarcoma developed after allogeneic hematopoietic stem cell transplantation. 2286 13

Virus-associated hemophagocytic syndrome (HPS) is a potentially fatal complication of immunosuppression for transplantation. However, it presents with heterogeneous clinical symptoms (fever, disturbed consciousness, and hepatosplenomegaly) and laboratory findings (pancytopenia, elevated hepatic enzyme levels, abnormal coagulation, and hyperferritinemia), impeding diagnosis. Case 1: A 39-year-old female developed fever 4 years after ABO-incompatible living-related renal transplantation. Laboratory findings revealed thrombocytopenia, elevated hepatic enzymes, Epstein-Barr virus (EBV) DNA seropositivity, and hyperferritinemia. EBV-associated HPS was confirmed by bone marrow aspiration. Steroid pulse therapy and etoposide were ineffective. Disseminated intravascular coagulation resulted in multiple organ failure, and the patient died 32 days after disease onset. Case 2: A 67-year-old male was admitted with rotavirus enteritis a month after living-unrelated renal transplantation. He developed sudden-onset high fever, disturbance of consciousness, and tachypnea 8 days after admission. Laboratory findings revealed elevated hepatic enzyme levels, hyperkalemia, and hyperferritinemia. Emergency continuous hemodiafiltration ameliorated the fever, and steroid pulse therapy improved abnormal laboratory values. Varicella-zoster virus meningitis was confirmed by spinal tap. Acyclovir improved consciousness, and he was discharged 87 days after admission. Fatal virus-associated HPS may develop in organ transplant patients receiving immunosuppressive therapy. Pathognomonic hyperferritinemia is useful for differential diagnosis.
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PMID:Virus-associated hemophagocytic syndrome in renal transplant recipients: report of 2 cases from a single center. 2583 52

Congenital infections refer to a group of perinatal infections that may have similar clinical presentations, including rash and ocular findings. TORCH is the acronym that covers these infections (toxoplasmosis, other [syphilis], rubella, cytomegalovirus, herpes simplex virus). There are, however, other important causes of intrauterine/perinatal infections, including enteroviruses, varicella zoster virus, Zika virus, and parvovirus B19. Intrauterine and perinatal infections are significant causes of fetal and neonatal mortality and important contributors to childhood morbidity. A high index of suspicion for congenital infections and awareness of the prominent features of the most common congenital infections can help to facilitate early diagnosis, tailor appropriate diagnostic evaluation, and if appropriate, initiate early treatments. In the absence of maternal laboratory results diagnostic of intrauterine infections, congenital infections should be suspected in newborns with certain clinical features or combinations of clinical features, including hydrops fetalis, microcephaly, seizures, cataract, hearing loss, congenital heart disease, hepatosplenomegaly, jaundice, or rash. Primary prevention of maternal infections during pregnancy is the cornerstone of prevention of congenital infection. Available resources should focus on the promotion of public health.
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PMID:Congenital infections in Hong Kong: an overview of TORCH. 3253 15


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