Cases reported "Rare Diseases"

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1/22. An unusual malignancy in a young female; urachal adenocarcinoma.

    Urachal adenocarcinoma is a rare tumour that predominantly affects men between the ages of 50-60; it presents late and is therefore associated with a poor prognosis. We discuss the presentation, investigation, treatment and prognosis of this uncommon tumour.
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keywords = tumour
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2/22. 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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keywords = rhabdoid
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3/22. 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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4/22. Mature sacrococcygeal teratoma: a case report and literature review.

    BACKGROUND: Sacrococcygeal teratomas are derived from embryonic germ cell layers. They present mostly in infancy and are extremely rare in adults; with an associated risk of malignancy. Modern imaging technique may be helpful to delineate the extent of the mass but surgical excision is generally indicated at the time of detection. patients AND methods: A case report is presented with a review of literature utilising medline, Microsoft Net and Yahoo search engines. RESULTS: A three day old female baby presented with a mature sacrococcygeal teratoma containing well-developed limb buds. She had surgical excision and primary repair with good results. A two-year follow up utilising serial serum alpha-fetoprotein assay and CT Scan revealed no evidence of tumour recurrence. CONCLUSION: Sacrococcygeal teratoma is a rare tumour that may be benign or malignant. Complete excision is the primary therapy and is adequate if the tumour is benign. Chemotherapy and radiotherapy are however indicated in malignant cases and in recurrence after previous excision.
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ranking = 1.5
keywords = tumour
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5/22. Maxillary haemangiopericytoma: a case report.

    BACKGROUND: Haemangiopericytoma is a very rare slow-growing vascular tumour with a variable malignant potential, constituting less than 1% of all neoplasms. It may arise from any blood vessel and in any organ of the body. Primary haemangiopericytoma of bone is even rarer, constituting about 0.1% of bone tumours. The tumour is extremely rare in Africans and particularly in the head and neck region. STUDY DESIGN: We describe the case of a 66-year old Nigerian with haemangiopericytoma of the maxilla, who presented with a recurrent but painless jaw mass. RESULTS: Surgical resection of this tumour is potentially bedevilled with the risk of torrential haemorrhage and high rate of recurrence. This risk may be substantially reduced by wide surgical resection with a careful microscopical examination of the resection margins and the institution of adjuvant radiotherapy in incompletely resected tumours. Chemotherapy has no known role in the management of haemangiopericytoma. Postoperative radiation therapy appears to be effective against tumour recurrence. CONCLUSION: Even then, long-term follow-up is essential in all cases. To our knowledge, this is the first report of this entity in an African.
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keywords = tumour
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6/22. Biatrial myxoma: rare incidence in cardiac surgery.

    A myxoma is a rare, usually noncancerous primary tumour of the heart. It is the most common benign cardiac tumour in adults, yet has a very low incidence in the cardiac surgery population, representing less than 1% of all cases. Biatrial myxomas are extremely rare, comprising only 2.5% of cardiac myxomas. Myxomas can be fatal due to embolic events or sudden death, however, prognosis after surgery is extremely good. The challenge for health care professionals is early recognition, diagnosis and treatment to prevent life-threatening events. This case presentation describes a gentleman with biatrial myxomas, and further discussion reviews the location, epidemiology, pathology, clinical presentation, assessment, diagnosis, and treatment aspects of cardiac myxomas. Since myxomas are a rare occurrence in cardiac surgery, it is hoped that this report may increase awareness and enhance cardiovascular nurses' understanding and knowledge in caring for the myxoma patient.
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keywords = tumour
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7/22. Intra-articular chondroma of the knee.

    Chondromas are tumours that develop in relation to the periosteum and, although they are common around the knee, most reports deal with soft tissue chondromas in para-articular locations or intracortical tumours in extra-articular regions. We report a rare case of an intra-articular chondroma in a 16-year-old boy of Asian origin developing in the region of the medial femoral condyle of the femur and extending into the femoral sulcus and the patellofemoral joint.
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8/22. Ovarian primary neuroendocrine carcinoma of non-small cell type: report of an extremely rare neoplasm.

    paraffin block sections of a uterus and ovarian mass from a 31 year old female were sent for second opinion to the Pathology Laboratory of Aga Khan University. Histologic examination and immunohistochemical features gave a diagnosis of primary neuroendocrine carcinoma of non-small cell type admixed with benign mucinous cystadenoma. This is a rare tumour with only eight being reported in literature.
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ranking = 0.5
keywords = tumour
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9/22. Signet ring cell carcinoma of the breast as a source of pelvic floor metastatic mass. A case report.

    Primary signet ring cell carcinoma of the breast is a very rare tumour. We present a case with pure signet ring cell carcinoma of the breast, which was recognized as metastasis on the pelvic floor, before developing breast symptoms and signs. A 40-year old woman was admitted with abdominal pain. First diagnostic effort revealed a cystic mass on the pelvic floor, compressing the colon and other neighbouring organs. A biopsy of the pelvic mass was performed. The histopathological examination revealed metastatic signet-ring cell carcinoma. At the time of the first operation, the mammary glands were not suspicious. No other sources of primary tumour were evidenced. An inflammatory sign developed in right breast two months after biopsy of the pelvic metastasis. The histopathology of the breast incisional biopsy revealed primary pure signet ring cell carcinoma of the breast. Because the oestrogen and progesterone receptor were negative in the tumoral tissue, the patient underwent chemotherapy followed by modified radical mastectomy, chemotherapy, and palliative resection of the metastatic mass. The patient was followed up for eight months. To our knowledge, in English literature, we believe that this case is the first report of signet ring cell carcinoma of the breast presenting with pelvic floor metastasis without breast sign.
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ranking = 1
keywords = tumour
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10/22. Metastatic adrenal neuroblastoma in an adult.

    BACKGROUND: neuroblastoma (NB) is a common malignancy in children, but rarely occurs in adults. Accepted unfavourable prognostic factors include age > 1 year, low histologic grade and advanced stage, MYCN amplification, chromosomal aberrations, elevations of neuron specific enolase and lactate dehydrogenase, and increased catecholamine metabolites in urine or serum. In adults, abdomen/retroperitoneum are the primary sites and in children the adrenal gland. CASE REPORT: A 51- year-old man was admitted to our hospital with hypertension and a large right retroperitoneal mass. Clinically, phaeochromocytoma was suspected. Tumour resection revealed adrenal NB grade III. Chemotherapy according to the paediatric German neuroblastoma Trial (NB97) was started. Follow-up computed tomography showed regression of the enlarged mediastinal and retroperitoneal lymph nodes. Because of local and systemic progression palliative radiochemotherapy was started. The patient died 9 months after diagnosis. CONCLUSION: To the best of our knowledge this is the oldest NB patient registered so far in germany. Currently there are no standard treatment guidelines for patients with NB in adulthood. Collection and evaluation of data in adult patients with this tumour are warranted in order to optimise treatment strategies.
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ranking = 0.5
keywords = tumour
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