1/9. Embolization of proper hepatic artery pseudoaneurysm complicating choledochoscopic laser therapy.Biliary papillomatosis is a rare disease characterized by multiple papillary proliferation of the epithelial cell of the bile duct. Because it has a tendency to be recurrent, the treatment strategy is choledochoscopic laser therapy. A patient with biliary papillomatosis treated by choledochoscopic laser therapy, which was complicated by massive haemobilia and shock, is presented. An intrahepatic artery pseudoaneurysm was diagnosed on angiography. A coexisting occlusion necessitated a superselective embolization of the pseudoaneurysm in order to avoid devascularization of the left lobe of the liver.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/9. Spontaneous dissecting aneurysm of the coronary artery. A rare cause of myocardial infarction and sudden death.Spontaneous dissecting aneurysm of the coronary artery (SDACA) not associated with aortic aneurysm or trauma is a very rare cause of myocardial ischemia. It has a higher prevalence in otherwise healthy women, especially in the peri- and postpartum period. In 80-90% of cases the diagnosis of SDACA is confirmed at autopsy, as the majority of patients present with acute myocardial infarction or sudden death. We describe the case of a 47-year-old Caucasian woman who died suddenly without any previous sign of cardiac disease. She had no clinical signs of Marfan's syndrome or arterial hypertension, she used no oral contraceptives and she was not in the peri- or postpartum period. At autopsy we found a recent dissecting aneurysm of the right coronary artery. histology showed a hematoma between the media and adventitia of the coronary artery, flattening and occluding the lumen. Acute myocardial infarction was present in the posterior wall of the left cardiac ventricle. SDACA is an unpredictable condition and prompt diagnosis and life-saving procedures--either surgical or conservative--are rarely successful. We report a very rare disease documented in only 108 cases according to the English-language literature accessible to us.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/9. Acute hemorrhagic edema of infancy: a case report.BACKGROUND: Acute hemorrhagic edema of infancy (AHEI), or Seidlmayer's disease, is a type of leukocytoclastic vasculitis proper of infants and children. It is characterized by a local increase in temperature, erythematous edema and purpuric lesions involving mainly the face and extremities. There usually is no visceral involvement. The disease is self-limited, bearing a benign clinical course. infection, drugs and immunization have been considered as precipitating factors. The main differential diagnosis is Henoch-Schonlein purpura (HSP). methods: We describe a classic example of acute hemorrhagic edema of infancy, and comment on the clinical features, pathology, immunopathology and proposed therapy. We characterize the differences between AHEI and HSP. RESULTS: A course of corticosteroids was given to avoid quick progression of disease. CONCLUSION: Acute hemorrhagic edema of infancy is a rare disease, and the most striking classic feature of the disease is the contrast between the acuteness of the cutaneous lesions and the good general condition of the patient. Considering its clinical features, pathology and immunopathology, AHEI can be justifiably characterized as a unique disorder, distinct from HSP.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/9. Umbilical endometriosis.We report two women who presented with a recurrent, mildly painful, bluish nodule in the umbilicus. Both patients complained of local tenderness and occasional bleeding that increased during menstruation. Neither patient had had previous pelvic surgery. Excision of the lesions revealed a primary umbilical endometriosis; in one case, a simultaneous laparoscopy showed a pelvic endometriosis. We review the current literature and discuss the possible etiopathogenesis and when a laparoscopy is indicated to diagnose a concomitant pelvic endometriosis. Umbilical endometriosis is a very rare disease but should be considered in the differential diagnosis of umbilical lesions.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/9. Lysozyme amyloidosis: report of 4 cases and a review of the literature.Autosomal dominant hereditary amyloidosis represents not 1 disease but a group of diseases, each the result of mutations in a specific protein. The most common form is transthyretin amyloidosis, which has been recognized clinically for over 50 years as a familial polyneuropathy. Nonneuropathic amyloidoses (Ostertag type amyloidosis) include those due to abnormalities in lysozyme, fibrinogen Aalpha-chain, and apolipoprotein a-i and A-II. The role of lysozyme in amyloid-related human disorders was first described in 1993; to date, there have been only 9 publications describing this disorder, which is a nonneuropathic form of hereditary amyloidosis. Reported cases have involved 7 unrelated families. We describe here our own experience with 4 families suffering from lysozyme amyloidosis: the first had prominent renal manifestations with sicca syndrome, the second and third had prominent gastrointestinal symptoms, and the fourth had a dramatic bleeding event due to rupture of abdominal lymph nodes. To our knowledge, this last symptom has not been reported previously, but is reminiscent of the hepatic hemorrhage seen in a previously reported case of a patient with lysozyme amyloidosis. To characterize the manifestations of this disorder, we performed an exhaustive literature review.Although hereditary amyloidosis is thought to be a rare disease, it is probably not as rare as we think and may well be underdiagnosed. Moreover, some cases of lysozyme amyloidosis are probably confused with acquired monoclonal immunoglobulin light-chain (AL) amyloidosis, formerly known as primary amyloidosis, which is the most frequent type of amyloidosis. Because treatment for each type of amyloidosis is different, and because therapy directed at 1 type may worsen symptoms of the other types, it is important to determine precisely the nature of the amyloid protein. Thus, hereditary lysozyme amyloidosis should be considered in all patients with systemic amyloidosis, particularly in patients who present with renal, gastrointestinal, or bleeding complications without evidence of AL or AA (secondary) amyloidoses.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/9. Spontaneous intratesticular haemorrhage.Spontaneous intratesticular haemorrhage is a rare disease. Four cases have been described, all diagnosed after orchidectomy. We present an additional patient with a spontaneously arisen intratesticular haematoma in whom orchidectomy could be avoided.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/9. A nosocomial outbreak of Crimean-congo haemorrhagic fever at Tygerberg Hospital. Part I. Clinical features.Crimean-congo haemorrhagic fever (CCHF) is a rare disease in south africa. From 1981 to September 1984, 8 sporadic primary cases were reported. An outbreak of CCHF in a large university hospital is described; of 8 patients diagnosed 2 died (the index and a secondary case). Four patients were seriously ill and 2 had a mild illness. Problems were encountered in diagnosing the disease, which presents initially with influenza-like symptoms, differing only in severity from influenza. However, petechiae and other manifestations of a bleeding tendency distinguished it from influenza in the later phase of the disease. Special investigations, especially those revealing leucopenia and thrombocytopenia, were critically important in early diagnosis. The dilemma of handling this highly contagious disease is that definite virological diagnosis is time-consuming and is conducted in only one high-security laboratory 1600 km distant. A further case was admitted 3 months later from a different locality and confirmed virologically but no secondary cases could be confirmed or traced.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/9. rupture of a giant non-functioning pancreatic islet cell tumor following minimal trauma.The interesting occurrence of a previously asymptomatic giant non-functioning islet cell tumor of the pancreas identified following rupture secondary to relatively insignificant abdominal trauma is reported. Despite the rarity of the condition, this circumstance underscores the need to be aware of the possibility of pre-existing pathology in evaluating and treating patients for blunt abdominal trauma. To our knowledge, this is the first reported instance of this rare disease entity presented secondary to blunt abdominal trauma.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/9. Peliosis of the spleen with intraperitoneal hemorrhage.We encountered a patient with steroid-related peliosis of the spleen, a rare disease characterized by multiple blood-filled cavities in the splenic parenchyma, with spontaneous intraperitoneal hemorrhage. The ultrasonographic, computed tomographic, and angiographic images were compared with pathologic findings of the material obtained surgically.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |