1/86. Misleading diagnosis of retroperitoneal actinomycosis.A 34-year-old woman presented with a left-sided suprarenal space-occupying lesion on sonography. culture of material obtained during sonographic-guided puncture of the retroperitoneal lesion yielded a mixed flora of actinomyces and peptostreptococcus. Initially, a misleading diagnosis of an adrenal pheochromocytoma was initiated by highly positive metaiodobenzylguanidine scintigraphy after chemical chemistry vanillylmandelic acid (VMA) test showed elevated values for adrenaline and its derivatives. Retroperitoneal actinomycosis with yet unproven spread into thoracic and cervical compartments is a particular unusual presentation of an infection with these organisms. Because it may mimic subacute infections or malignant masses in terms of clinical and laboratory findings, radiological diagnosis of this entity may be difficult. The diagnosis was based on results of culture and the response of the patient to long-term penicillin-derivate therapy after surgical drainage of the suprarenal abscess formation.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
2/86. Acute watery diarrhea as the initial presenting feature of a pheochromocytoma in an 84-year-old female patient.We report the case of an 84-year-old woman who was initially admitted to the emergency room of our institution for frank dehydration caused by acute and severe secretory diarrheas along with acidosis and hypokalemia. After extensive gastrointestinal investigations, the etiology of the diarrhea remained unclear. Because clinical symptoms and ionogram parameters worsened, despite intravenous fluids and electrolyte replacement, an abdominal CT scan was performed and unexpectedly revealed a 4.5-cm mass in the right adrenal gland. Several separate 24-hour urine catecholamines were shown to be highly elevated. The diagnosis of pheochromocytoma was confirmed by MIBG scintigraphy and MRI. Before the admission, the patient never experienced symptoms suggestive of pheochromocytoma, except dry mouth and fear of impending death on several occasions. After 2 weeks, the diarrhea stopped abruptly and spontaneously without specific medication but after adequate rehydration. The patient subsequently underwent surgical removal of the adrenal medullary mass. Postoperatively, urinary catecholamines returned to normal values. Immunohistochemical study of the tumor confirmed the diagnosis of pheochromocytoma and revealed the presence of VIP-positive cells organized as islets in scattered areas of the tissue. This case illustrates the protean mode of presentation of pheochromocytoma, as well as the ability of medullary neural crest-derived cells to produce various neuropeptides potentially responsible for a large variety of symptoms.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
3/86. Malignant schwannoma of the stomach in a patient with von Recklinghausen's disease.A patient with von Recklinghausen's disease died with a malignant schwannoma of the stomach and was found at autopsy to have neurofibromatosis of the gastrointestinal tract, a plexiform neurofibroma of the myocardium and a phaechromocytoma. Malignancy of the gastrointestinal tract in von Recklinghausen's disease is rare, and this case highlights the difficulties in histological diagnosis of malignant nerve sheath tumours.- - - - - - - - - - ranking = 0.24077570751364keywords = nerve (Clic here for more details about this article) |
4/86. Retinal abnormalities associated with a mutation of the nucleotide 683 in von hippel-lindau disease.BACKGROUND: von hippel-lindau disease (VHL) is a hereditary cancer syndrome in which affected individuals are at risk of developing tumors in multiple organs, including eyes, cerebellum, spinal cord, kidneys, inner ear, adrenal glands and pancreas. methods: We performed a fundus examination and fluorescein and indocyanine green (ICG) angiography in both eyes of a young woman affected by VHL with bilateral pheochromocytoma, retinal angioma, retinal microaneurysms and unusual alterations of the deep retinal layers. A molecular analysis of the VHL gene was carried out. RESULTS: ophthalmoscopy disclosed in her right eye a small retinal hemangioma, some microaneurysms in both eyes at the posterior pole and multiple, small, whitish, dome-shaped lesions scattered in the retinal pigment epithelium (RPE) of the posterior retina. Fluorescein angiograms revealed in the early phase multiple hyperfluorescent spots that showed progressive discoloration in the late phase of angiography. Some of these spots were ophthalmoscopically undetectable. The late phase of ICG angiography showed some small hyperfluorescent points located at the level of the RPE, and some of them corresponded to the hyperfluorescent spots seen on fluorescein angiography. The molecular analysis revealed the presence of a "missense" mutation of the VHL gene at nucleotide 683. CONCLUSIONS: Alterations in the RPE have never been observed in the VHL syndrome. We describe an unusual case of VHL with a capillary hemangioma associated to diffuse alterations with the RPE of the posterior retina. The possibility exists that these lesions form part of the eye modifications in VHL.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
5/86. A 35-year-old man with cerebral hemorrhage and pheochromocytoma: the second brain-dead organ donor in japan.A 35-year-old man was brought into the emergency room of Keio University Hospital by ambulance because of a sudden onset of coma. His glasgow coma scale was 3 and his blood pressure 150/100 mmHg. CT scanning revealed a subcortical hemorrhage 8 cm in diameter. His respiration deteriorated rapidly, and an emergency craniotomy was performed for hematoma removal and cerebral decompression. Postoperatively the patient remained in a deep coma (GCS = 3) requiring respiratory support. The family presented an organ donor card previously signed by the patient, and brain death was confirmed in accordance with japan's transplant law. As a result of two tests conducted six hours apart brain death was confirmed on the 5th postoperative day. With the family's consent, the donor's heart, kidneys and skin were removed for organ transplantation to be performed in other institutions. An autopsy was performed after the removal of the organs and skin. An extensive subgaleal hemorrhage was found in the left cerebral hemisphere, and microscopic examination revealed extensive necrosis with karyolysis of neuronal cells, but no viable neuronal cells were found in the cerebrum. The brain stem was marked by edema, hemorrhage, infarction necrosis and neuronal cell loss. The cerebellum was swollen and congested and showed autolysis of the granular layer. These findings suggested brain death syndrome with respirator brain. Other autopsy findings included a huge pheochromocytoma in the right adrenal gland, bilateral bronchopneumonia, liver congestion and fatty metamorphosis with four cavernous hemangiomas, and mild chronic lymphocytic thyroiditis. This patient was the second brain-dead organ donor and the first brain-dead patient to undergo postmortem examination in japan.- - - - - - - - - - ranking = 8keywords = organ (Clic here for more details about this article) |
6/86. Glomus faciale, glomus jugulare, glomus tympanicum, glomus vagale, carotid body tumors, and simulating lesions. role of MR imaging.In summary, MR imaging characteristics of a case of paraganglioma of the facial nerve are reported. The relationship of paragangliomas and the chromaffin system have been discussed. There are many reports of cases of synchronous paragangliomas and pheochromocytomas. These reports, along with simultaneous involvement in familial MEN syndromes, and the common embrylogic origin (neural crest) and similar histopathologic relationships between paragangliomas and pheochromocytoma, all support the fact that they are part of the chromaffin system.- - - - - - - - - - ranking = 0.24077570751364keywords = nerve (Clic here for more details about this article) |
7/86. Multiple endocrine neoplasia (MEN)--an overview and case report--patient with sporadic bilateral pheochromocytoma, hyperparathyroidism and marfanoid habitus.The multiple endocrine neoplasia syndromes are divided into two categories: MEN type I and MEN type II. The MEN type II syndrome is further divided into MEN IIa and MEN IIb. The syndromes are characterized by benign and malignant changes in two or more endocrine organs, as well as incidental changes in nervous, muscular and connective tissue. Two main forms can be distinguished: the MEN-I syndrome with hyperplasia of the parathyroid gland, accompanied by islet cell tumor and pituitary adenoma; the MEN-II syndrome with medullary thyroid carcinoma in combination with bilateral pheochromocytoma and hyperplasia of the parathyroid gland (MEN IIa), while type IIb is characterized by the additional appearance of neurocutaneous manifestations without primary hyperparathyroidism. Characteristics shared by these syndromes include the involved cell type, most of the tumors are composed of one or more specific polypeptide- and biogenic amine-producing cell types (APUD--amine precursor uptake and decarboxylation). The second characteristic is the increased incidence in certain families. The hereditary component is autosomal dominant with variable expression but high penetrance. Mechanisms of tumorigenesis differ in these syndromes. While MEN I is caused by an inherited mutation of a tumor suppressor gene, menin, located on the long arm of chromosome 11, MEN II is caused by activation of the RET proto-oncogene. We have reported the case of a young man exhibiting bilateral pheochromocytoma. In addition, the patient showed mild primary hyperparathyroidism and marfanoid habitus, all these stigmata usually being part of the MEN-II syndrome. Although this described patient showed a phenotypic mixture of the MEN-IIa and MEN-IIb syndrome, the genetic analysis for MEN II and von-Hippel-Lindau gene did not reveal any pathologic mutations, the endocrine disorders described here are not related to multiple endocrine neoplasia syndromes.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
8/86. Multicentric pheochromocytoma and involvement of the inferior vena cava.CONTEXT: Extension of pheochromocytomas to the inferior vena cava is rare. Multicentric tumors are rare as well, being present in up to 10% of cases. Surgery is the treatment of choice because of the long-term survival free of disease. DESIGN: Case report. CASE REPORT: We report on a case of right adrenal pheochromocytoma with extension to the supra-diaphragmatic vena cava, which underwent surgical excision through thoracophrenic laparotomy without the need for cardiopulmonary bypass. In a 6-year follow-up, another pheochromocytoma was found in the infra-renal Zuckerkandl's organ. Complete surgical excision of the tumor was performed by a median laparotomy and complete retroperitoneal dissection. In both cases, the total removal of the pheochromocytoma has been guaranteed by having margins free of tumor and a normal post-operative level of catecholamines. The pathological study revealed a malignant pheochromocytoma with margins free of neoplasia in both specimens.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
9/86. From eyelid bumps to thyroid lumps: report of a MEN type IIb family and review of the literature.PURPOSE: We present a two-generation family with multiple endocrine neoplasia (MEN) type IIb diagnosed by their ophthalmologists based on characteristic ophthalmic findings. methods: A family consisting of a 33-year-old female proband and her 8- and 7-year-old children had prominent corneal nerves; eyelid, lip, and tongue nodules; and a characteristic facies. A polymerase chain reaction-based genetic assay was obtained to detect the genetic mutation most commonly associated with MEN type IIb. serum calcitonin and urine catecholamine studies were obtained. RESULTS: Molecular genetic studies detected in all 3 patients a mutation at codon 918 of the RET proto-oncogene known to be present in 95% of the cases of MEN type IIb. serum calcitonin was elevated in the proband and her son. urine catecholamine levels were elevated in the proband. Surgical treatment and histologic analysis confirmed pheochromocytoma and medullary thyroid carcinoma (MTC) in the proband. Surgical exploration revealed the MTC to be metastatic to the liver. CONCLUSIONS: This family demonstrates the characteristic findings of MEN type IIb: prominent corneal nerves in a clear stroma and multiple submucosal neuromas of the conjunctiva, eyelids, lips, and tongue. Ophthalmologists have a critical role to play in recognizing these signs, because the early diagnosis of medullary thyroid carcinoma and pheochromocytoma may be life saving.- - - - - - - - - - ranking = 0.48155141502727keywords = nerve (Clic here for more details about this article) |
10/86. Typical ocular findings in a patient with multiple endocrine neoplasia type 2b syndrome.BACKGROUND: Multiple endocrine neoplasia (MEN) type 2b syndrome is accompanied by typical ocular findings; however, the disease is often only diagnosed at an advanced stage by symptoms of C-cell carcinoma or pheochromocytoma and is then fatal in most cases. Therefore, the importance of ophthalmic assessment in making the diagnosis has to be stressed. methods: The history and ocular findings of a patient with MEN 2b syndrome are described, and a brief overview of the syndrome is given. RESULTS: Slit-lamp examination showed extremely thickened corneal nerves as well as multiple small plexiform and nodular subconjunctival tumors. Both eyes also displayed thickened upper and lower eyelids. A molecular genetic study of the RET proto-oncogene showed a heterozygous ATG to ACG mutation in codon 918 of exon 16. CONCLUSION: Greatly thickened corneal nerves and subconjunctival tumors may be the first hint of MEN 2b. Whenever greatly thickened corneal nerves are detected, MEN 2b must be ruled out.- - - - - - - - - - ranking = 0.72232712254091keywords = nerve (Clic here for more details about this article) |
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