Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This work aimed at reporting a case of Turner's syndrome with portal vein thrombosis and elevated levels of factor VIII and von Willebrand factor. A 14-year-old Libyan girl was admitted for evaluation of infantilism and pallor; meanwhile, she was found to be of short stature, with webbing of the neck. Chromosomal studies showed monosomy pattern Turner's syndrome (45XO). Abdominal ultrasound displayed a hugely enlarged spleen. Computed tomography (CT) imaging of the abdomen revealed portal vein thrombosis and dilated venous collaterals in porta hepatis. Thrombophilia screening demonstrated elevated levels of factor VIII (207 IU dl(-1)) and von Willebrand factor (450 IU dl(-1)). It was concluded that this was a case report on the unusual finding of portal vein thrombosis in a patient with Turner's syndrome in whom high levels of factor VIII and von Willebrand factor were found. Detailed molecular epidemiological study is recommended to clarify this finding and its underlying factors.
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PMID:Portal vein thrombosis in a patient with Turner's syndrome: a case report. 2256 Aug 22

Described herein is the case of a previously healthy 7-year-old girl who had splenic infarction. This lesion was identified 1 day after the first presentation of peri-umbilical and right upper quadrant pain. She had abnormal hepatic function and mild splenomegaly, and was diagnosed as having primary Epstein-Barr virus (EBV) infection. Coagulation profiles indicated low plasma activity of protein C (49%) and protein S (47%), which normalized 3 weeks later. Hypercoagulability in transient protein C and protein S deficiency might contribute to the development of splenic infarction in infectious mononucleosis.
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PMID:Splenic infarction in a child with primary Epstein-Barr virus infection. 2413 66