1/34. Acute hepatobiliary tuberculosis: a report of two cases and a review of the literature.Two cases of hepatobiliary tuberculosis are described. Case one, the macronodular type of hepatic tuberculosis, presented as pyrexia of unknown origin and was eventually diagnosed by sectional imaging when a mass lesion developed in the liver and aspiration revealed acid-fast bacilli. Case two presented with jaundice due to a hilar bile duct stricture. The patient was successfully treated by repeated bile duct stenting and later chemotherapy for tuberculosis. In both cases previous positive histology or culture would have expedited diagnosis and treatment. Acute hepatobiliary tuberculosis remains a rare disease. Suspicion of the disease and adequate biopsy are important to allow prompt appropriate treatment.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/34. Acute renal infarction. Clinical characteristics of 17 patients.We analyzed the medical records of patients with an established diagnosis of acute renal infarction to identify predictive parameters of this rare disease. Seventeen patients (8 male) who were admitted to our emergency department between May 1994 and January 1998 were diagnosed by contrast-enhanced computed tomography (CT) as having acute renal infarction (0.007% of all patients). We screened the records of the 17 patients for a history with increased risk for thromboembolism, clinical symptoms, and urine and blood laboratory results known to be associated with acute renal infarction. A history with increased risk for thromboembolism with 1 or more risk factors was found in 14 of 17 patients (82%); risk factors were atrial fibrillation (n = 11), previous embolism (n = 6), mitral stenosis (n = 6), hypertension (n = 9), and ischemic cardiac disease (n = 7). All patients reported persisting pain predominantly from the flank (n = 11), abdomen (n = 4), and lower back (n = 2). On admission, elevated serum lactate dehydrogenase was found in 16 (94%) patients, and hematuria was found in 12 (71%) of 17 patients. After 24 hours all patients showed an elevated serum lactate dehydrogenase, and 14 (82%) had a positive test for hematuria. Our findings suggest that in all patients presenting with the triad--high risk of a thromboembolic event, persisting flank/abdominal/lower back pain, elevated serum levels of lactate dehydrogenase and/or hematuria within 24 hours after pain onset--contrast-enhanced CT should be performed as soon as possible to rule out or to prove acute renal infarction.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/34. Acute fascioliasis with multiple liver abscesses.Human fascioliasis is distributed worldwide with several foci of high endemicity. Being a rare disease in europe, we describe here a case in the initial hepatic phase of the disease. Therapeutic and, with reference to the 2 distinct stages of disease, diagnostic standards are discussed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/34. Primary granulocytic sarcoma presenting with bone pain and hypergammaglobulinemia.Granulocytic sarcoma (GS), is an extramedullary tumorous aggregate of neoplastic myeloid precursor cells, most often associated with acute myeloid leukemia (AML). Primary GS occurs in patients with normal bone marrow and no history of hematological disorders. It is a rare disease, which can involve any organ and mimic other tumors. A correct initial diagnosis, which can be difficult, and early treatment with chemotherapy as for AML patients results in a higher rate of complete remission. We report a case of multifocal primary GS of the bone associated with oligoclonal hypergammaglobulinemia, successfully treated with AML-like induction chemotherapy followed by postinduction therapy with autologous peripheral stem cells transplantation. The possible significance of the associated hypergammaglobulinemia is discussed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/34. Primary amyloidoma of the thoracic spine presenting with acute paraplegia.BACKGROUND: Primary solitary amyloidoma of the spine is a rare disease characterized by localized deposition of amyloid. To the best of our knowledge, there have been only 14 cases previously reported in the literature. patients with focal spinal amyloidoma usually have relatively long symptomatic periods preoperatively, ranging from 3 weeks to 6 years (mean: 12 months). Only two reported patients had acute paraplegia. We add a third case of a thoracic spine amyloidoma presenting with acute paraplegia. CASE DESCRIPTION: A 65-year-old man presented with a three-day history of progressive paraplegia and urinary retention. He was found to have severe cord compression at T2 on magnetic resonance imaging. He underwent emergent decompressive laminectomy with instrumentation for spinal stabilization. Histopathology revealed abundant amyloid deposits. A systemic work-up was negative for amyloidosis. The patient showed marked neurological improvement with residual mild spastic gait after 1 year. CONCLUSIONS: Primary spinal amyloidoma with acute paraplegia is rare. One-stage surgery combining prompt decompression and stabilization of the spinal column is mandatory in cases of spinal amyloidoma with acute myelopathy, because primary solitary amyloidoma carries a good prognosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/34. Congenital leukaemia: the Dutch experience and review of the literature.We reviewed Dutch patients and those described in the literature with congenital leukaemia in the past 25 years, with the intention to obtain an overview of the characteristics of this rare disease. Among the 117 patients reviewed, acute myeloid leukaemia (AML) was more frequent (64%) than acute lymphoblastic leukaemia (ALL, 21%). Most patients had a high leukaemic cell load with hepatosplenomegaly, leukaemia cutis and hyperleucocytosis. Cytogenetic abnormalities were found in the majority of the patients tested (72%); 11q23 abnormalities were found in less than half of them (42%). The probability of overall survival at 24 months was only 23%. When congenital AML and ALL were compared, clinical characteristics and overall survival were not significantly different. However, in patients at risk, the probability of event-free survival (EFS) and disease-free survival (DFS) were significantly higher in AML than in ALL, 43% versus 13% and 68% versus 0% respectively. Among the congenital AML cases, six spontaneous remissions have been described. In conclusion, the clinical characteristics of congenital leukaemia differ from those of leukaemia in older children and prognosis is generally poor. Once complete remission is achieved, patients with AML fare better than those with ALL. Chemotherapy for congenital leukaemia needs improvement to increase the sustained remission rate.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/34. calciphylaxis: case report and literature review.Tissue calcification is a well-recognized common metabolic disease, but calciphylaxis still remains an enigmatic rarity. The latter may be induced experimentally and acquired naturally in human diseases. Although many chronic azotemic or end stage renal disease patients (ESRD) with hyperparathyroidism (HPT) are at risk of calciphylaxis not all of them do develop the disease, even non-renal, patients may also develop this disease. Out of a total of about 2000 hemodialysis, 15,000 dermatology and 26,000 medical patients seen over a three year period in a busy Saudi Arabian tertiary medical centre, we report a sentinel nephrology patient with sudden excruciatingly painful cutaneous calciphylaxis that necessitated acute dermatology emergency consultation, and present a review of the medical literature. In order to institute appropriate total quality management of this life-threatening, rare disease, it is advisable that a high index of suspicion should be entertained by dermatologists, general physicians, nephrologists, and pulmonologists in an appropriate clinical scenario.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/34. Rapid engraftment of mast cells of donor origin in a case of acute myeloid leukemia with mast cell leukemia after allogeneic stem cell transplantation.mastocytosis is a rare disease characterized by an abnormal increase of mast cells in tissues. We report a case of acute myeloid leukemia (AML) with t(8;21) and mast cell leukemia (MCL) in which the mastocytosis persisted after standard chemotherapy and allogeneic stem cell transplantation, although the myeloid leukemia achieved molecular complete remission soon after induction chemotherapy. Donor-type mast cells were noted on d31 after transplant. No c-kit mutation was found before or after the transplant. This represents the first reported case in which rapid engraftment of mast cells of donor origin was documented. Thus, the possibility that the mast cell originates from a common myeloid precursor cell may be questioned and a reactive process should be considered in some cases of systemic mastocytosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/34. Management of cutaneous manifestations of extensive purpura fulminans in a burn unit.purpura fulminans is a rare disease, which may have devastating cutaneous manifestations. It usually follows an infectious illness, and although it most commonly occurs in children, it can occur in adults. The pathogenesis may be related to a relative deficiency of protein c and/or protein s. A case of an adult male is presented to illustrate the management of the severe full-thickness skin loss and the use of surgical excision and allograft in this disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/34. Primary pancreatic lymphoma presenting as acute pancreatitis.Primary pancreatic lymphoma is a rare disease and usually presents with nonspecific symptoms like abdominal pain, weight loss, or jaundice. Here we report a case of primary pancreatic lymphoma presenting as acute pancreatitis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
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