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)

Most of the primary infections caused by Epstein-Barr virus in children are asymptomatic. In symptomatic patients, clinical presentation is variable. We describe 33 patients admitted to Suleimania Children's Hospital, Riyadh from 1409 too 1411H (1988 to 1990G) with acute primary infection caused by Epstein-Barr virus. The clinical presentation was mostly with upper respiratory tract infection, fever, lymphadenopathy, and hepatosplenomegaly. Three patients had arthralgia and three had neurological manifestations. Only four patients had atypical lymphocytes > 10%. Elevated serum alanine and aspartate aminotransferase levels were found in about 54.55 of the patients.
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PMID:The spectrum of acute Epstein-Barr virus infection in Saudi children. 1758 19

We report on an 18-year-old Lithuanian girl with hepatosplenomegaly noticed at birth, which progressed thereafter. The patient had to wait about 17 years for an accurate diagnosis and appropriate therapy. Lactase deficiency, congenital cataract of the right eye, and osteoporosis were observed. Episodes of drowsiness were caused by intake of high-protein food. Laboratory findings included slight hyperammonaemia, high plasma Citr, Ala, Gly, Glu, Ser levels, as well as citrullinuria, lysinuria, glutaminuria, alaninuria, argininuria, prolinuria, hydroxyprolinuria, ornithinuria, and orotic aciduria. Aversion to high-protein diet strongly suggested a disorder resulting in hyperammonaemia. Citrullinaemia was suspected. Subsequently the diagnosis of LPI was made on the basis of biochemical and clinical features. Molecular genetic testing revealed a mutation in the SLC7A7 gene, confirming the diagnosis.
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PMID:First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis. 1766 82

A 46-year-old woman with Gaucher's disease (GD) consulted our clinic for abdominopelvic magnetic resonance imaging (MRI), as physical examination had revealed hepatosplenomegaly. Upper abdominal MRI showed massive hepatosplenomegaly and innumerable hypointense splenic nodules on T1-weighted images. Diffusion-weighted MRI (DW-MRI) and magnetic resonance spectroscopy (MRS) were performed to liver parenchyma and splenic nodules. MRS revealed lactate, lipid, acetate, and alanine peaks in splenic nodules, and choline, creatine, lipid, myo-inositol-glycine, and lactate peaks in the liver parenchyma. The DW-MRI showed diffusion restriction in splenic nodules. It was concluded that MRI is a reliable method for the diagnosis and follow up of GD. Coupling DW-MRI and MRS allows quantitative evaluation, thereby increasing the efficacy of the method. This is the first report in the literature presenting advanced abdominal MRI findings in GD.
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PMID:Diffusion-Weighted Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy Features of Abdominal Viscera in a Patient with Gaucher's Disease. 2524 42