1/4. Idiopathic infantile arterial calcification: unusual features.Idiopathic infantile arterial calcification (IIAC) is a rare disease of unknown etiology, which causes widespread arterial calcification and usually leads to early death from coronary arterial occlusion. Periarticular calcification has been reported in some cases. Two new cases are reported. In addition to the usual features of the disease, one was found to have ear-lobe calcification and the other an aortic aneurysm and coarctation of the aorta. Therapy with diphosphonate was apparently successful in one patient.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/4. leiomyosarcoma of the inferior vena cava presenting as a suprarenal mass.leiomyosarcoma of the inferior vena cava is a rare disease with protean manifestations related to the location of the tumor. urological manifestations of the disease are rare and include renal vein thrombosis and renovascular hypertension. Approximately 63 cases have been reported in the literature, with a striking female predominance. Presentation as an isolated suprarenal mass has not been reported previously. We discuss this unusual tumor and report a case that presented as an asymptomatic suprarenal mass.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/4. Familial occurrence of membranous obstruction of the inferior vena cava: arguments in favor of a congenital etiology.Membranous obstruction of the inferior vena cava is a rare disease. The etiology of the membrane is believed to be thrombotic or congenital. In three of 11 siblings from a single family, symptoms of membranous obstruction of the inferior vena cava developed during early adult life. All had signs of more long-standing disease, as judged by the presence of collaterals, cirrhosis and, in one case, hepatocellular carcinoma. On family screening no further cases of membranous obstruction of the inferior vena cava were found. There was also no evidence of inherited defects in the natural coagulation inhibitors (protein c, protein s and antithrombin iii) and plasminogen deficiency. This familial occurrence of membranous obstruction of the inferior vena cava supports a congenital etiology, although a thrombotic etiology cannot be totally excluded.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/4. portal vein aneurysm in the liver associated with multiple vascular malformations.portal vein aneurysm (PVA) includes focal dilatation of the portal vein, and was formerly thought to be a rare disease. We report a 46-year-old man with chronic aggressive hepatitis and intrahepatic portal vein aneurysm communicating with the hepatic vein. Hemangiomas in the liver and intracranial arteriovenous malformation (AVM) were also found. To our knowledge, this is the first report of a case of PVA in a patient with congenital intracranial AVM. As the PVA in this patient communicated with the hepatic vein, and as hemangiomas in the liver and intracranial AVM were also present, the pathogenesis in this patient seems to have been congenital anomaly of the vasculature.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |