Cases reported "Rare Diseases"

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1/21. 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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keywords = alveolar
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2/21. Spontaneous rupture of an aneurysmal intrarenal arteriovenous fistula.

    We present a 65-year-old woman who was found to have a spontaneous rupture of an aneurysmal intrarenal arteriovenous fistula. To our knowledge, the present case is only the 3rd reported in the literature. The preferred method of treatment of ruptures of arteriovenous fistulae is embolization. However, the process of choosing among embolization, surgery, or a combination of both procedures must be individualized for each patient based on vital signs and symptoms.
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ranking = 0.004030235465732
keywords = process
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3/21. Multicentric Castleman's disease manifesting in the lung: clinical, radiographic, and pathologic findings and successful treatment with corticosteroid and cyclophosphamide.

    Multicentric Castleman's disease (MCD) is an uncommon and often incurable lymphoproliferative disorder. There has been some recent evidence that rare cases of MCD manifest diffuse lung involvement, but the features in these cases are not well characterized. We report just such a biopsy-proven case of MCD with typical laboratory abnormalities including serum interleukin-6 elevation and characteristic high-resolution CT findings. Immunopathologically, the features of the lung tissue resembled those of lymphocytic interstitial pneumonia with predominant infiltration of B cells and plasma cells. In addition, the abnormal appearance of B cells in bronchoalveolar lavage fluid was of diagnostic value. Although MCD is often refractory to treatment including corticosteroid, chemo- and immuno-therapy, we show successful treatment with corticosteroid and cyclophosphamide and 4 years of complete remission.
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keywords = alveolar
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4/21. Pulmonary epithelioid hemangioendothelioma: an unusual case and a review of the literature.

    We describe a case of pulmonary epithelioid hemangioendothelioma, previously known as intravascular bronchoalveolar tumor, in a 35-year-old woman with an initial diagnosis made by transbronchial biopsy. This is a rare disease, with approximately 50 cases described in the literature. All previous cases have been diagnosed by surgical lung biopsy. Although our patient underwent thoracoscopic lung biopsy, the diagnosis was initially made on transbronchial biopsy; to our knowledge, this has not been previously described in the English-language literature. We also described findings on high-resolution CT, both typical and atypical relative to previously published reports. This tumor can affect multiple organs. The prognosis is very unpredictable, with life expectancy ranging from 1 to 15 years. There is no single effective treatment, though spontaneous regression and response to chemotherapy and interferon are reported.
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ranking = 0.16666666666667
keywords = alveolar
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5/21. Surgically revascularized dual LAD.

    Dual left anterior descending artery (or dual anterior interventricular artery, LAD) is a rare coronary artery anomaly. Dual but normally originated LAD has been usually reported to have no clinical significance. In this case report, we present a case of 75 year old male with anginal symptoms in whom coronary arteriography showed normally originated dual LAD with two branches of almost equal caliber. The course of both branches were supplying the usual territory of LAD and both of the branches had significant proximal stenosis. The patient underwent a coronary artery bypass grafting operation and both branches were grafted. This normally originated dual LAD case may be considered to be interesting, because dual LAD branches were symmetrically involved with the atherosclerotic process in their proximal segments. In addition, this condition was demonstrated intraoperatively and the two branches were revascularized with bypass grafting.
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ranking = 0.004030235465732
keywords = process
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6/21. Synovial chondromatosis of the hip: a case report and clinicopathologic study.

    Primary synovial chondromatosis (PSC) is a rare, usually monoarticular disorder of synovial joints. PSC is characterised by the formation of osteocartilaginous nodules in the synovial connective tissue. We report the case of a 32-year-old male with PSC of the left hip. At clinical examination abduction of the left hip was limited and rotation was painful. Ultrasound examination of the hip revealed joint effusion and multiple hyperechogenic foci due to distal acoustic shadowing. Plain radiographs showed a slight soft tissue swelling around the femoral neck and multiple round or ovoid calcifications of a uniform size. MRI revealed a large joint effusion with multiple small filling defects. Open total synovectomy was performed after dislocation of the femoral head. The diagnosis of PSC was confirmed by histological examination of the excised material. The majority of cells failed to exhibit any staining for cerb B-2 and ki-67. None of the sections showed more than 5% labelling for dna-fragmentation proven by terminal deoxytransferase-mediated dUTD nick-end labeling (TUNEL), and all were completely non-reactive for p53 as well. In conclusion, immunohistochemical analysis suggests that in this case PSC originated from metaplasia and not from a proliferative process. After two years, the patient was free of symptoms and radiological control did not show evidence of recurrence or femoral head necrosis. Physical findings, diagnosis, histological features and management of PSC are discussed.
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ranking = 0.004030235465732
keywords = process
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7/21. An unusual form of Riedel's thyroiditis: a case report and review of the literature.

    We report the case of a 36-year old woman with a history of long-term fever associated with a biologic inflammatory syndrome that was not corrected by several courses of corticosteroid treatment. The only remarkable result during previous investigations was the presence of a positive Epstein-Barr virus (EBV) serology. Clinical examination revealed an heterogenous thyroid with a nodule on the right lobe. serum thyrotropin (TSH) concentration was normal. The levels of antiperoxidase antibodies and thyrocalcitonin were normal. Ultrasound examination of the neck showed a 3-cm hypoechogenous nodule in the right lobe of the thyroid. A total thyroidectomy was performed. Histopathologic findings led to the diagnosis of Riedel's thyroiditis. We observed a dramatic improvement after surgery with absence of fever and normalization of inflammatory parameters. The role of EBV infection in the process of this unusual form of Riedel's thyroiditis is discussed.
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ranking = 0.004030235465732
keywords = process
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8/21. Behcet disease complicated by diffuse alveolar damage.

    We report an extremely rare case of Behcet disease complicated by diffuse alveolar damage, which was fatal in this patient. It manifested as progressive diffuse ground-glass attenuation in both lungs on chest radiographs and high-resolution CT. Ground-glass attenuation was confirmed histopathologically as diffuse alveolar damage without identified etiology by open lung biopsy.
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ranking = 1
keywords = alveolar
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9/21. Unusual late pulmonary complication in a child after umbilical cord blood transplantation: high-resolution CT-pathologic correlation.

    We encountered a late pulmonary complication after umbilical cord blood transplantation (UCBT) that has not been previously reported. High-resolution CT (HRCT) findings of this disease were compared with the pathology. HRCT obtained on inspiration showed dilated thick-walled bronchioli, and innumerable centrilobular linear and branching structures in the bilateral middle and lower lobes. Neither mosaic perfusion nor air-trapping was seen in HRCT on inspiration and expiration. These HRCT findings were atypical compared with those of former bronchiolitis obliterans (BO) after bone marrow transplant (BMT). Pathologic specimens obtained by open lung biopsy showed thickening of the wall from the distal bronchioli to the alveolar ducts due to submucosal and intraepithelial infiltration of lymphocytes, histiocytes and foamy macrophages, which was not accompanied by organizing changes. These changes resemble lymphocytic bronchiolitis in lung transplant recipients, which was well correlated with HRCT findings. We think that our case was a new late pulmonary complication after UCBT.
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ranking = 0.16666666666667
keywords = alveolar
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10/21. Spondylocarpotarsal synostosis syndrome (with a posterior midline unsegmented bar).

    Spondylocarpotarsal synostosis syndrome (SSS) is characterised by malsegmentation of the thoracic spine and carpal/tarsal fusions. A unilateral or bilateral unsegmented bar may be present in the thoracic spine. Presenting clinical signs are congenital scoliosis early in life, and shortening of the trunk with scoliosis and/or lordosis in older children. We report a 13-year-old girl with SSS and a midline unsegmented bar running along the spinal processes of T3 to L2 and extending into the posterior vertebral elements.
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ranking = 0.004030235465732
keywords = process
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