1/11. color-Doppler in the imaging work-up of primary hyperparathyroidism.Primary hyperparathyroidism (PHP) is a rare disease that must be suspected in all the cases of recurrent calcium nephrolithiasis, and that may be totally corrected by surgery. The imaging techniques permit to locate the hyperplastic gland or adenoma before intervention, but their usefulness in patients without a history of previous neck surgery is still debated. Several imaging techniques have been proposed with the aim of locating parathyroid hyperfunctioning glands, including high resolution sonography (US) with color-Doppler (CD), scintigraphy, computed tomography (CT) and magnetic resonance imaging (MRI). We report here a case of recurrent calcium oxalate nephrolithiasis sustained by PHP, which demonstrates how US coupled with CD and echocontrast enhancement is useful in the preoperative location of parathyroid glands. US is the first choice technique in the evaluation of PHP because it is less expensive and useful in detailing lesions of the neck when carried out by a skilled operator. CD should be regarded as a useful complement of US enhancing its sensitivity (80 vs 90%) especially in the cases of associated thyroid gland diseases. Tc-99m SESTAMIBI scintigraphy coupled with MRI is mandatory in high risk surgical patients, namely in those undergoing repeated neck surgery. In conclusion, considering that surgeon must explore all the four parathyroid glands (because of the possibility of multiple adenomas or hyperplasia) a well definite location of the adenomatous lesion may reduce the risks and the time of intervention, and allow the use of alternative procedures, such as videoscopic surgery. On this view and in terms of economy, only US and CD coupled with Tc-99 SESTAMIBI scintigraphy should be considered before surgery.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/11. Management issues regarding hepatic adenomatosis.Hepatic adenomatosis is a rare disease defined by multiple hepatic adenomas. There is controversy with regard to the optimal treatment for this disease because the potential for intraperitoneal hemorrhage or malignant transformation of the tumors is difficult to estimate. Furthermore, the technical difficulties of complete resection of all adenomas present unique operative challenges. We report experience with two patients and reviewed all reported cases from 1977. We define hepatic adenomatosis as five or more hepatic adenomas not associated with a medical history of glycogen storage disease, anabolic steroid use, or oral contraceptive use. The incidence of hepatic adenomatosis was preponderate among women [20 of 32 patients (63%)]. Thirteen of 32 patients (41%) had intratumoral bleeding, including four patients with intraperitoneal hemorrhage. Ten of 13 patients (77%) with intratumoral bleeding complained of abdominal pain; overall, 19 of 32 patients (59%) had abdominal pain. Twelve patients underwent hepatic resection, 6 patients underwent liver transplantation with no reported mortality, and 14 patients had no surgical treatment. Hepatocellular carcinoma was histologically confirmed in 2 of 32 patients (6%). Larger symptomatic adenomas exposed to liver surface have a bleeding propensity and should be surgically resected. Routine biopsy of other small nodules suspected as adenomas is recommended for definitive diagnosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/11. adenoma of the nipple in an adolescent.We recently treated a 14-year-old girl with a clinically and histologically diagnosed with adenoma of the nipple. Enucleation of a mass preserving the nipple was successfully performed. adenoma of the nipple is a rare disease which is often mistaken clinically for Paget's disease. About 200 cases of the tumors have been reported worldwide so far. The most common symptom is erosion of the nipple and nipple discharge. Our case had erosion of the nipple but no discharge. adenoma of the nipple is a benign lesion which can be successfully treated by a simple surgery.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/11. Papillomatosis confined to the distal biliary tract--a rare cause of obstructive jaundice: report of a case.Based on the findings of a patient with recurrent obstructive jaundice due to papillomatosis of the distal bile duct, we herein describe the diagnostic difficulties and therapeutic options in this very rare disease. Endoscopic retrograde cholangiopancreatography and, in particular, cholangioscopy are the imaging procedures of choice if biliary papillomatosis is suspected. Due to the tendency of such patients to demonstrate malignant transformation and develop biliary cirrhosis with septic complications, an early and radical surgical resection is recommended in rare cases of localized papillomatosis. This approach may offer the only chance of a cure although the potential risk of multifocal recurrence cannot be ruled out. When considering a radical resection, intraoperative cholangioscopy is strongly recommended to confirm any localized papillomatosis and rule out any diffuse papillomatosis of the entire biliary tract.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/11. Phlebosclerotic colitis coincident with carcinoma in adenoma.Phlebosclerosis of the colon is a rare disease characterized by a thickening of the wall of the colon with fibrosis, hyalinization and calcification to the affected veins. These symptoms result in a type of ischemic colitis known as phlebosclerotic colitis. A case of phlebosclerotic colitis coincident with carcinoma in adenoma is reported. A 74-year-old Japanese woman was admitted to hospital because of a mass in her right lower abdomen. Abdominal computed tomography examination revealed linear calcifications in the wall of the cecum and the ascending colon. colonoscopy revealed dark purple mucosa with multiple ulcers in the cecum and the ascending colon. biopsy specimens showed a marked hyalinous thickening of the wall of small blood vessels in the mucosa. Phlebosclerotic colitis was suspected because of negative results with amyloid stain. Alternative ileocolic angiography showed the serpentine of the peripheral nature blood vessels and pooling at the late venous phase. Microscopic examination of the surgically resected colon revealed mucosal and submucosal fibrosis, and a thickening of the venous wall with fibrosis, hyalinization and calcification from the mucosa to the serosa, which caused a marked luminal narrowing. A small polypoid lesion was also found in the affected region and was diagnosed histologically as carcinoma in adenoma. To our knowledge, this is the first reported case of phlebosclerotic colitis complicated by carcinoma.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/11. Syringomatous adenoma of the nipple: a case report.Syringomatous adenoma of the nipple is a rare disease. To our knowledge, only 23 cases have been reported in the literature. We present the case of a 36-year-old lactating woman with syringomatous adenoma of the nipple, in whom local excision of the tumor was performed. Histologically, the tumor consisted of tubules, ductules and epithelial cell strands, and most of the proliferating ducts showed a characteristic teardrop or comma-shaped appearance. Careful monitoring to detect local recurrence is considered necessary, because syringomatous adenoma of the nipple, while being benign, is a locally invasive tumor.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/11. A boy with McCune-Albright syndrome associated with GH secreting pituitary microadenoma. Clinical findings and response to treatment.The McCune-Albright syndrome (MAS) is a sporadic rare disease first described in 1936 by McCune and separately by Albright. MAS is characterized by a triad of physical signs: cafe-au-lait spots, polyostotic fibrous dysplasia and autonomous endocrine hyperfunction. MAS is predominantly observed in girls and is rarely reported in males. We report the case of a 9-year old boy with gonadotropin independent precocious puberty, cafe-au-lait spots, polyostotic fibrous dysplasia and growth hormone hypersecretion.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/11. Non-functioning parathyroid carcinoma: a case report.Non-functioning parathyroid carcinoma is a very rare disease. Only 12 cases have been reported in the literature. The clinical behavior is characterized by the appearance and growth of a neck mass or nodule, which often has been present for many years, and is not accompanied by clinical or laboratory evidence of hypercalcemia or elevated levels of parathyroid hormone (PTH) in peripheral blood. Pathologic findings are similar to those of functioning tumors, and the proof of malignancy is established on the basis of an increased mitotic index only. Data on survival from cases reported in the literature are not conclusive; however, the non-functioning type of parathyroid carcinoma seems to be a more aggressive disease. radiotherapy seems to be effective in the local control of the disease, but most patients become metastatic. Even if no data are available on response to chemotherapy, the course of the disease is relatively indolent.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/11. Intrasellar abscess after transsphenoidal pituitary adenomectomy.Intrasellar abscess is a rare disease that is difficult to diagnose preoperatively. Few neurosurgeons who operate by the transsphenoidal route are concerned with intrasellar abscess despite its high mortality rate. We describe a case of intrasellar abscess which, to our knowledge, is only the second diagnosed or suspected preoperatively. Most cases have been diagnosed unexpectedly at operation or autopsy. This case also is the first reported intrasellar abscess arising within an intrasellar graft used to seal the sella turcica after transsphenoidal pituitary adenomectomy. The clinical suspicion of infection proved more reliable than roentgenograms and laboratory studies in leading to the proper diagnosis and successful therapy.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/11. Simultaneous occurrence of hepatic adenoma and focal nodular hyperplasia: report of a case and review of the literature.We report the case of a 28-year-old woman with a history of oral contraceptive use and the simultaneous occurrence of histologically proven hepatic adenoma and focal nodular hyperplasia. A review of the literature discloses that the simultaneous occurrence of these hepatic lesions is a rare event. Epidemiologic evidence suggests that hepatic adenomas are etiologically related to oral contraceptive use, whereas focal nodular hyperplasia does not seem to be caused by these agents. The finding of the two lesions in the same liver may represent the chance occurrence of two rare diseases.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
| | Next -> |