Cases reported "Rare Diseases"

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1/94. Pulmonary alveolar microlithiasis after Varicella zoster infection in a patient presenting with antiphospholipid syndrome and discoid lupus.

    We present a case with diagnosis of pulmonary alveolar microlithiasis that illustrates the appearance of this rare chronic lung disease on conventional chest X-ray, high-resolution CT, and transbronchial lung biopsy. This is the first case reported which developed pulmonary alveolar microlithiasis after Varicella zoster infection in a patient with antiphospholipid antibodies and discoid lupus.
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2/94. 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.
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3/94. Primary extrarenal rhabdoid tumor of the ovary. A case report.

    BACKGROUND: Malignant rhabdoid tumors are rare, aggressive neoplasms that consist of both renal and extrarenal subtypes. Although extrarenal rhabdoid tumors have been documented at multiple extrarenal sites, to our knowledge no primary ovarian cases have been reported. CASE: An 18-year-old, Caucasian woman was diagnosed with a pure primary extrarenal rhabdoid tumor of the ovary following diagnostic laparoscopy for pelvic pain. The tumor exhibited rapid growth, failed to respond to chemotherapy and led rapidly to death. CONCLUSION: Although no other reports on primary ovarian extrarenal rhabdoid tumor have been published, the aggressive behavior of the tumor in this patient was similar to that seen in patients with metastatic disease.
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4/94. biliary tract disease: a rare manifestation of eosinophilic gastroenteritis.

    Eosinophilic gastroenteritis (EGE) is a rare inflammatory disease characterized by diffuse or scattered eosinophilic infiltration of the digestive tract and usually by peripheral blood eosinophilia. The most common presenting symptoms of EGE are abdominal pain, vomiting and diarrhea, but clinical features depend on which layers or location of gastrointestinal tract are involved. Treatment with corticosteroids results in clinical and histological remission in most patients and surgery can be avoided if a correct diagnosis is made. Previous history of allergy is a key to diagnosing EGE, but peripheral eosinophilia may be absent in some patients under concomitant treatment with corticosteroids. Radiological and endoscopic findings are also nonspecific and diagnosis must always be histologically confirmed. The gastrointestinal involvement is patchy in distribution, so more than one panendoscopic examination is often necessary to establish the diagnosis, and surgical or CT-guided full-thickness biopsy is needed in patients with muscular or serosal involvement. It emphasises the importance of a high index of clinical suspicion, which mainly depends on knowledge of natural history of the disease. We report here a case of EGE associated with transmural eosinophilic cholecystocholangitis, in a patient who presented with dyspeptic symptoms and recurrent cholestasis responsive to corticoesteroids. To our knowledge, this patient represents the second case, in the English literature, in which corticoid-responsive cholangitis was associated to histologically proven eosinophilic cholecystitis and gastrointestinal involvement, suggesting that EGE must always be considered in the differential diagnosis of biliary tract disease in patients with eosinophilia and/or atopic diseases.
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5/94. Very severe aplastic anemia appearing after thymectomy.

    Aplastic anemia is a rare complication of thymoma and is extremely infrequent after thymectomy. We present a case of a 60-year-old woman with very severe aplastic anemia appearing sixteen months after thymectomy for a thymoma. She underwent thymectomy for a thymoma in April 2000. Preoperative examination revealed no hematologic abnormality. About sixteen months after the operation, she was readmitted because of pancytopenia with cough and fever. bone marrow aspiration revealed a very severe hypoplasia in all the three cell lines with over 80% fatty tissue, and chest CT revealed no recurrence of thymoma. Her aplastic anemia had responded to cyclosporine A and granulocyte-colony stimulating factor (G-CSF).
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keywords = chest
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6/94. Extraction of the radial artery during transradial coronary angiography: an unusual complication.

    The transradial approach is currently an accepted alternative for vascular access during percutaneous coronary interventions. Access-site complications, such as mild hematoma, hematic effusions, and reduced or absent radial pulse, have been reported. We report the occurrence of total extraction of the radial artery during sheath removal. The occurrence of this complication emphasizes the need for meticulous attention and prudence when a patient complains of local pain during sheath extraction.
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7/94. Retrorectal cyst: a rare tumor frequently misdiagnosed.

    BACKGROUND: The rarity of retrorectal cysts and their nonspecific clinical presentations often lead to misdiagnoses and inappropriate operations. In recent years, several such patients have been referred to our institutions for evaluation and treatment of misdiagnosed retrorectal cysts. A review of these patients is presented. STUDY DESIGN: medical records of the colorectal surgery divisions at two institutions were reviewed. patients found to have previously misdiagnosed retrorectal cysts were identified. Preliminary diagnoses, radiologic examinations, operative procedures, and final diagnoses were obtained. RESULTS: Seven patients with retrorectal cysts who had been misdiagnosed before referral were identified. These patients had been treated for fistulae in ano, pilonidal cysts, perianal abscesses; psychogenic, lower back, posttraumatic, or postpartum pain, and proctalgia fugax before the correct diagnosis was made. patients underwent an average of 4.1 operative procedures. physical examination in combination with CT scanning made the correct diagnosis in all patients. All patients underwent successful resection through a parasacrococcygeal approach, and six of seven did not require coccygectomy. The resected tumors included four hamartomas, two epidermoid cysts, and one enteric duplication cyst. CONCLUSIONS: Retrorectal cysts are a rare entity that can be difficult to diagnose without a high index of clinical suspicion. A history of multiple unsuccessful procedures should alert the clinician to the diagnosis of retrorectal cyst. Once suspected, the correct diagnosis can be made with physical examination and a CT scan before a definitive surgical procedure.
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8/94. Castleman disease of the pleura: experience with eight surgically proven cases.

    BACKGROUND: Castleman disease of the pleura is unusual, and we present our experience with eight surgically proven cases. methods: Between 1980 and 2002, 8 patients (7 women and 1 man; age range, 20 to 53 years; mean, 26.5 years) with surgically proven, pleural Castleman disease (six hyaline vascular type, one plasma cell type, and one mixed type) were encountered. Their clinical, imaging, and surgical findings were reviewed. RESULTS: Five patients were asymptomatic, 1 had dyspnea, 1 had cough, and 1 experienced chest discomfort. Chest radiography showed a well-circumscribed interlobar, cardiophrenic, or paraaortic mass in 6 patients, a massive effusion in 1, and a focal diaphragmatic bulge in 1. Six tumors showed varying degrees of contrast enhancement (10 to 95 HU; mean, 46 HU) on computed tomography. Three cases appeared as well-defined, heterogeneously hyperintense pleural masses on magnetic resonance imaging. The masses varied in size from 3 to 10 cm (mean, 5.2 cm). Five masses greater than 5 cm had prominent pleural arterial blood supply and severe adhesions requiring thoracotomy and resection of nearby structures for radical tumor excision. blood loss from patients varied between 100 and 850 mL (mean, 620 mL). No tumor recurrence was noted during follow-up (range, 1 to 16 years; mean, 6.5 years). CONCLUSIONS: Pleural Castleman disease predominately affects young women and manifests as a well-circumscribed mass with a varying degree of contrast enhancement on computed tomography and heterogeneity on magnetic resonance imaging. Tumors greater than 5 cm have profuse pleural blood supplies and severe adhesion necessitating open thoracotomy and resection of neighboring structures. Radical resection can produce a satisfactory outcome.
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9/94. An unusual case of generalized oedema.

    We present the case of a 66-year-old woman with generalized oedema and pain in the four limbs. physical examination revealed a diffuse, painful, partly pitting, oedema of forearms, hands, lower legs and feet. There were no signs of synovitis. Laboratory investigation was non relevant, except for mild eosinophilia, which normalized subsequently. Cardiac, nephrological and venous disturbances were excluded. More uncommon disorders, such as eosinophilic fasciitis, early stage of scleroderma and polymyositis were considered. MRI scanning of the right forearm revealed an increased signal intensity in the superficial muscle fibers and thickening of the fascia (figure 1). Subsequently a full thickness biopsy of the musculus flexor digitorum superficialis was performed, revealing an inflammatory infiltration of lymphocytes and eosinophils, localized in the fascia. There was no necrosis of muscle fibers. No signs of scleroderma were found. The biopsy confirmed the diagnosis of eosinophilic fasciitis. Clinical and MRI findings suggested an early stage of disease and the patient was treated with low-dose corticosteroids.
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ranking = 1.1552
keywords = pain
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10/94. Follicular dendritic cell sarcoma of the tonsil: report of a rare case.

    Follicular dendritic cell tumors are extremely rare. Only 17 cases have been previously described in the literature, and only three of them involved primary tumours of the oral cavity. We describe a new case of the latter, which occurred in a 51-year-old man who sought evaluation for a painless enlargement of his left palatine tonsil. The tonsil was excised, and histologic examination revealed that the tumor was a primary sarcoma that had arisen from the dendritic reticulum cells of the palatine tonsil. Postoperatively, the tumor site was treated with percutaneous irradiation (total dose: 70 Gy). After more than 5 years of follow-up, the patient showed no evidence of recurrence. We also discuss the salient features of the immunohistochemical examination.
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