1/12. An experience of a case with perforation of an aneurysm in the anterior mitral cusp developing after aortic valve replacement.Mitral valve aneurysm is a rare disease and in japan, cases of perforation which is considered to be mainly caused by infectious endocarditis is usually only encountered through case reports. We experienced a case who received aortic valve replacement and mitral valve annuloplasty for combined valvular heart disease of aortic insufficiency and mitral insufficiency followed by mitral valve replacement for severe mitral valve regurgitation subsequent to perforation of the anterior mitral cusp, leading to recovery.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/12. Does pancreatico-biliary maljunction play a role in spontaneous perforation of the bile duct in children?Spontaneous perforation of the bile duct (SPBD) is a rare disease in children. Pancreatico-biliary maljunction (PBM) has been postulated to contribute to its etiology. We have treated three children with SPBD over 30 years, two of whom had PBM. There was one boy and two girls aged 10 months to 2 years with symptoms of abdominal distension, vomiting, abdominal pain, jaundice, and acholic stools. The diagnosis of SPBD was made by paracentesis showing biliary ascites, and primary biliary and intra-abdominal drainage was performed in all cases. The site of perforation was at the connection of the common bile duct (CBD) with the cystic duct in all cases. In two cases reflux of contrast into the pancreatic duct was noted, the common channel was long (17 and 12 mm, respectively), and the bile amylase level in the CBD was abnormally high (50,000 and 67,000 IU/l, respectively). In the third patient there was no reflux of contrast into the pancreatic duct and the bile amylase and trypsin levels in the CBD and gallbladder were not measurable. Thus, SPBD in children may not be due solely to PBM, but may involve multiple mechanisms.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/12. Ruptured epidermoid cyst and haematoma of spleen: a diagnostic clue of high levels of serum carcinoembryonic antigen, carbohydrate antigen 19-9 and Sialyl Lewis x.Splenic epidermoid cyst is a rare disease and that with haematoma is even more rare. The case of epidermoid cyst of the spleen is described, in a 36-year-old Japanese female, manifesting as left hypochondralgia and rupture of the cyst. Clinical features were splenic lesion 14 cm in diameter and consisting of round-hypovascular and crescent-hypervascular sublesions. Extravasation of cystic fluid was detected in abdominal cavity Preoperative diagnosis was difficult due to such uncommon features, however high levels of serum tumour markers (carcinoembryonic antigen, carbohydrate antigen 19-9, Sialyl Lewis x) strongly suggested epidermoid cyst. Laparotomic splenectomy and cholecystectomy were performed for splenic lesion and gallstones, and serum tumour markers decreased following surgery. Pathological diagnosis of the round-hypovascular lesion was epidermoid cyst and crescent-hypervascular lesion was haemorrhage (haematoma).- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/12. Haematogenous brain abscess complicating a case of Austrian syndrome.Austrian syndrome includes pneumococcal endocarditis, meningitis and rupture of the aortic valve. This study reports a case with a haematogenous brain abscess. physicians should be aware of the risk factors and dramatic evolution of this rare disease, to avoid delays in diagnosis, and to prevent embolic complications and rupture of the aortic valve.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/12. Spontaneous rupture of a right atrial angiosarcoma and cardiac tamponade.Primary cardiac angiosarcoma is a rare disease of difficult diagnosis and poor prognosis frequently associated with recurring hemopericardium. We report the case of a 30-year-old female with a right atrial angiosarcoma and spontaneous rupture to the pericardial cavity, who was diagnosed during an emergency exploratory thoracotomy, whose indication was cardiac tamponade. This is the 8th case reported in the literature. Clinical findings are discussed and a literature review is provided.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/12. Dieulafoy-like lesion of the colon presenting with massive lower gastrointestinal bleeding.The Dieulafoys lesion is a rare cause of severe gastrointestinal hemorrhage. The lesion is usually located in the stomach, although it may occur anywhere in the gastrointestinal tract. It is characterized by severe bleeding from a minute submucosal arteriole that bleeds through a punctate erosion in an otherwise normal mucosa. We describe an elderly patient who presented with severe lower gastrointestinal bleeding caused by a colonic Dieulafoy-like lesion. This is the third report of colonic Dieulafoys lesion treated successfully with endoscopic hemoclipping. We review the pathophysiology, clinical presentation, diagnosis, and treatment of this rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/12. Single-stage reconstruction of perforated choledochal cyst: case report and review of the literature.Choledochal cysts represent a rare disease in the western world. We reviewed our recent experience with a case of perforated choledochal cyst, define the currently accepted treatment options, and review the literature of this unusual disease. An 11-month-old girl presented with abdominal pain and distention as well as non-bilious vomiting. Subsequent workup included endoscopic retrograde cholangiopancreatography revealing a perforated type I choledochal cyst. She underwent single-stage excision and reconstruction with a Roux-en-Y hepaticojejunostomy. Perforated choledochal cyst is a rare event, and prompt surgical intervention is warranted. Single-stage cystectomy and Roux-en-Y reconstruction is possible in select patients. A thorough understanding of the pathophysiology, management, and follow-up is required.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/12. Right ventricular myocardial infarction and late cardiac tamponade due to right coronary artery aneurysm--a case report.Coronary artery aneurysm is a relatively rare disease, which may cause angina, myocardial infarction, or sudden unexpected death due to thrombosis, embolization or rupture. This report describes a case of a 46 year old male who suffered an inferior myocardial infarction with right ventricular involvement, third degree atrioventricular block, cardiogenic shock and late cardiac tamponade, all caused by a right coronary artery aneurysm. He was successfully treated with emergency coronary artery bypass grafting. A review of the literature is also given to emphasize the importance of prompt recognition and correct management of the coronary artery aneurysm.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/12. rupture of a renal cell carcinoma in a child: five-year tumor-free survival and literature review.The third case of presumably spontaneous rupture of a hypernephroma in a child is reported. This patient remains free of disease more than 5 years following radical nephrectomy, radiation and chemotherapy. Although renal adenocarcinoma in children remains a rare disease, more than 80 cases have appeared in the literature, making it necessary now to consider this tumor in the differential diagnosis of all childhood abdominal masses. Equally significant is the observation that presentation as an acute abdominal crisis in a child can occur, making it important that diagnostic considerations in such situations include hypernephroma, as well as Wilms' tumor. review of the literature shows that occasional cures from spontaneous retroperitoneal rupture of hypernephromas have been reported in adults, but not in children, although this child has survived in spite of tumor spillage in the free peritoneal cavity.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/12. Congenital afibrinogenemia in 10 offspring of uncle-niece marriages.Two unrelated large sibships, including 10 cases of congenital afibrinogenemia among 27 sibs, are reported. Both sibships were the product of uncle-niece marriages. They were not selected for any particular clinical manifestation and should provide some information on genetic fitness. Six of the patients died in childhood, two affected boys are adolescent and two affected patients are young women. Two of the four survivors had spontaneous ruptures of the spleen. Fitness in this very rare disease seems to be close to zero and the inheritance is autosomal recessive.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
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