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)

Infection caused by Toxoplasma gondii, toxoplasmosis, is one of the most frequent zoonoses in the world; it normally affects both genders equally. Humans are one of several possible intermediate hosts, and the disease is oligosymptomatic in most cases. Vertical transmission is an important cause of fetal malformation and sequels in newborns. Approximately 10% of postnatal cases present multiple manifestations, ranging from low fever and mild lymphadenopathy to severe encephalitis. In moderate cases, lesions such as retinochoroiditis may emerge during acute infection or even years later. We analyzed 313 cases of toxoplasmosis from 1992 to 2004, including 261 acute cases. Most patients were women (68.1%), and 39% of these were pregnant. Among acute infection cases, 64.8% presented symptomatic disease; the most frequent manifestations were lymphadenomegaly (59.8%), fever (27.2%), headache (10.7%), asthenia (10%), weight loss (8.4%), myalgia (8%), retinochoroiditis (3.4%) and hepatosplenomegaly (1.5%). Although ocular lesions by T. gondii are well documented as a possible consequence of postnatal infection, two patients developed retinochoroiditis only two years after primary infection. This demonstrates the need for toxoplasmosis case surveillance, even long after acute manifestations.
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PMID:Postnatal acquired toxoplasmosis patients in an infectious diseases reference center. 1921 85

Griscelli syndrome type 2 (GS2) is a rare autosomal-recessive disorder associated with a RAB27A gene mutation, and clinically manifesting as hypopigmentation, disseminated chronic encephalitis, and severe immunological disorders characterized by an accelerated hematological phase, also referred to as hemophagocytic syndrome (HS), or hemophagocytic lymphohistiocytosis (HLH). The authors report the diagnosis of GS2 in an 11-year-old girl with hypopigmentation, immunodeficiency, hepatosplenomegaly, severe neurological impairments, and fatal multiorgan failure. In this patient a diagnosis of pulmonary lymphomatoid granulomatosis (LG), an Epstein-Barr virus (EBV)-related lymphoproliferative disorder, was established from radiological and histological findings. Although EBV-related malignancies are common in immunocompromised patients, this is the first report of a diagnosis of pulmonary LG in a patient with GS2.
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PMID:Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. 2211 99

Japanese encephalitis (JE) and malaria would coexist in the areas where both illnesses are endemic with overlapping clinical pictures, especially in a case of febrile encephalopathy with hepatosplenomegaly. However, there are no published data till date showing concurrent infection of these two agents despite both diseases being coendemic in many areas. We report a case of concurrent infection of JE and mixed plasmodium infection, where the case, initially diagnosed as cerebral malaria did not improve on antimalarials and alternative diagnosis of JEV encephalitis was thought which was confirmed by a serological test. To the best of our knowledge, this is the first case report of concurrent Japanese encephalitis with mixed plasmodium infection. We report a case of 3-year-old male child, who presented with febrile encephalopathy with hepatosplenomegaly. Based on a rapid diagnostic test and peripheral smear examination, a diagnosis of mixed P.Vivax and P.falciparum infection was made and the patient was treated with quinine and doxycycline. However, besides giving antimalarials the patient did not improve and an alternative diagnosis of JE was considered as the patient was from the endemic zone of Japanese encephalitis. Cerebrospinal fluid (CSF) of the patient was sent for a virological study which came out to be positive for JE IgM in CSF, which is confirmatory of JE infection. In a patient with febrile encephalopathy with hepatosplenomegaly especially in areas coendemic for JE and malaria, the possibility of mixed infection should be kept in mind.
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PMID:Concurrent infection of Japanese encephalitis and mixed plasmodium infection. 2283 81

Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disorder that is clinically characterized by fever, hepatosplenomegaly, cytopenia and sometimes vague or dramatic central nervous system (CNS) dysfunction. FHL affecting the CNS imitates several neurologic disorders and may be misdiagnosed, in particular when family history is unknown. We report an autopsy case of FHL that was firstly considered as progressive encephalitis. FHL was suspected after sibling had been affected by hemophagocytosis and the same CNS symptoms. Histopathologically, lymphocytes and macrophages infiltrated into the meninges, perivascular space, and parenchyma of the brain. Those lymphocytes were positive for CD3, CD8, GranzymeB, and negative for CD4, perforin. FHL must be included in the differential diagnostic considerations in children with progressive encephalitis.
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PMID:[Familial Hemophagocytic Lymphohistiocytosis, That was Considered as Progressive Encephalitis before Sibling was Diagnosed]. 2659 29

Cytomegalovirus (CMV) is a ubiquitous member of the Herpesviridae family that can present with a variety of clinical manifestations, including encephalitis, retinitis, interstitial pneumonia and colitis. These serious symptoms are generally observed as opportunistic infections in immunocompromised hosts, including patients with acquired immunodeficiency syndrome and those receiving steroids and/or immunosuppressants. Symptomatic CMV infections in patients with ulcerative colitis are found in patients treated with steroids and/or immunosuppressants but rarely affect those who are not taking these agents. The present study reported the case of a young patient without concurrent use of immunosuppressive agents for the treatment of ulcerative colitis. The patient presented with acute mononucleosis and colitis caused by primary CMV infection. This was characterized by the presence of atypical lymphocytes and hepatosplenomegaly, elevation of transaminase levels, serology-positive anti-CMV IgM, and CMV antigenemia. Additionally, CMV-positive cells were histologically detected in colonic biopsy specimens. The patient's symptoms and clinical parameters improved following initiation of intravenous ganciclovir. It was concluded that even if patients with ulcerative colitis are not treated with steroids and/or immunosuppressants, significant attention should be paid to acute CMV infections in the context of severe or persistent colonic inflammation.
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PMID:Acute cytomegalovirus infection in an immunocompetent patient with ulcerative colitis: A case report. 3145 14


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