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 report three infants with Down syndrome who had hepatic fibrosis, which is rare in this syndrome. Liver specimens were obtained by biopsy or autopsy. In one patient, the peripheral blood contained blastoid cells, a typical hematological feature of the transiently abnormal myelopoiesis of Down syndrome. Ascites and hepatosplenomegaly were found in all patients. The intralobular hepatic fibrosis was pericellular and perisinusoidal, and the narrowing of the central veins resembled that in venoocclusive disease of the liver. We found some megakaryocytes in the liver, which were stained for von Willebrand factor and platelet glycoprotein IIb/IIIa. In one specimen, collagen type IV and alpha smooth muscle actin were stained by immunohistochemical methods, so the fibrosis in this case was probably caused by cells such as Ito cells derived from myofibroblasts. Overall, the findings suggest that megakaryocytes in the liver of these three patients produce collagen-stimulating cytokines such as transforming growth factor beta, and that Ito cells were involved in the hepatic fibrosis we observed.
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PMID:[Unusual hepatic fibrosis in three cases of Down syndrome]. 875 40

Primary leiomyosarcoma of vascular origin is a rare malignant smooth muscle tumor. This report describes a case of primary leiomyosarcoma of the inferior vena cava (IVC) in a 52-year-old male who presented with complaints of abdominal pain, chest pain, and bilateral lower limb swelling for 4 months. Imaging of the chest and abdomen revealed a mass in the IVC extending into right atrium, heterogeneous enhancement of liver, hepatosplenomegaly, and ascites. Histopathological examination showed a malignant spindle cell tumor with cells arranged in fascicular and hemangiopericytomatous pattern. Immunohistochemistry for smooth muscle actin and desmin confirmed smooth muscle origin of the tumor. Recognition of this tumor in this rare location and Budd-Chiari syndrome-like presentation is imperative for proper management of the patient.
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PMID:Leiomyosarcoma of inferior vena cava with intracardiac extension presenting as Budd-Chiari syndrome: Report of a rare case. 2863 48