1/11. Fine needle aspiration diagnosis of lymphangiomyomatosis. A case report.BACKGROUND: Lymphangiomyomatosis is a rare disease of females, usually of reproductive age. There is a proliferation of lymphatic smooth muscle in mediastinal, retroperitoneal and often pulmonary lymphatics and lymph nodes. CASE: A 45-year-old female presented with a right pleural effusion and increasing retroperitoneal adenopathy with palpable left inguinal adenopathy. Three months previously she had undergone a right salpingo-oophrectomy for an ovarian fibroma with concomitant left ovarian wedge biopsy, myomectomy for leiomyomas and partial omentectomy. Three years previously, at age 42, she had experienced two transient episodes of chylous pleural effusion with no sequelae. She underwent computed tomography-guided fine needle aspiration of a 4-cm inguinal lymph node to rule out lymphoma. CONCLUSION: Fine needle aspiration of lymphangiomyomatosis yields distinctive cytologic morphology. This characteristic morphology, in combination with the appropriate history, permits a minimally invasive, timely and in this particular case, entirely unexpected diagnosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/11. autoimmunity to gephyrin in Stiff-Man syndrome.Stiff-Man syndrome (SMS) is a rare disease of the central nervous system (CNS) characterized by chronic rigidity, spasms, and autoimmunity directed against synaptic antigens, most often the GABA-synthesizing enzyme glutamic acid decarboxylase (GAD). In a subset of cases, SMS has an autoimmune paraneoplastic origin. We report here the identification of high-titer autoantibodies directed against gephyrin in a patient with clinical features of SMS and mediastinal cancer. Gephyrin is a cytosolic protein selectively concentrated at the postsynaptic membrane of inhibitory synapses, where it is associated with GABA(A) and glycine receptors. Our findings provide new evidence for a close link between autoimmunity directed against components of inhibitory synapses and neurological conditions characterized by chronic rigidity and spasms.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/11. Five cases of the lymphangioma of the mediastinum in adult.Mediastinal lymphangioma is rare disease. Above all cavernous type of mediastinal lymphangioma is very rare. We report 5 cases of mediastinal lymphangioma including cavernous type. CT was performed in all and revealed that they were smoothly marginated and cystic. All were surgically resected and specimens were classified pathologically into cystic type (3 cases), cavernous type (1 case) and mixed type of the two (1 case). MRI was performed in the cavernous type and suggested that the mass was lymphangioma because of pathognomonic lesion. Despite preoperative diagnosis of mediastinal lymphangioma is difficult, MRI is able to useful examination. In the follow-ups there has been no recurrence in our series.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/11. Neurofibromatosis with malignant transformation presenting as an emergency in a nigerian child: a case report.Neurofibromatosis is a rare disease, and malignant transformation of this otherwise benign tumor is extremely rare in childhood. In this case report, attention is drawn to childhood neurofibromatosis presenting as a life-threatening triad of malignant transformation, visceral metastasis and upper airway obstruction leading to death in a 9-year-old female Nigerian child. This case report is purposed to draw attention to this condition, mostly reported in adults and to review literature on the disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/11. Successful removal of a slowly growing mediastinal cavernous haemangioma after vascular embolization.Mediastinal haemangioma is a rare disease. We report a 23-year-old male patient with a posterior mediastinal cavernous haemangioma. The CXR revealed a progressively enlarging mediastinal mass which on chest CT and angiography appeared to be a well-enhanced hypervascular tumour. Angiographic gel foam embolization of the feeding vessels was undertaken prior to the surgical removal of the mass. The mass lesion following surgical removal was shown to be a cavernous haemangioma on histological examination.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/11. Malignant paraganglioma of the posterior mediastinum. A case report and review of the literature.A case of malignant paraganglioma arising from the posterior mediastinum and presenting with a chest wall metastasis is reported with immunocytochemical and ultrastructural documentation. The pathobiologic features of this rare disease are reassessed with a review of the literature. Cytoarchitectural features do not provide reliable information regarding malignant potential. However, evidence of local invasiveness at surgical exploration and/or lack of initial surgical control are likely to be associated with synchronous or metachronous metastatic disease. Although there are clinicopathologic differences warranting distinction between benign paragangliomas arising in the anterior and posterior mediastinal compartments, there is no apparent pathobiologic difference with regard to the malignant group.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/11. Primary liposarcoma of the mediastinum--a case report and review of the literature.liposarcoma of the mediastinum is a rare disease. A 59 year old woman was seen with the complaint of dizziness. A chest radiogram taken during the course of investigation for hypertension revealed a large mass shadow 24 X 18.5 X 12 cm located in the anterior mediastinum. The tumor of the mediastinum was diagnosed as a benign lipoma when it was first resected, but subsequently proved to be a liposarcoma when it re-appeared 2 years and 10 month later. Based on the WHO classification, the mixed type of liposarcoma was diagnosed. The salient and pathological features of mediastinal liposarcoma are reviewed and compared with those nine cases reported in japan and fifty in north america and European countries. Treatment by simple enucleation or shelling out of the tumor should be discouraged, since this seems to be the main cause of local recurrence. Surgical wide en bloc excision is the treatment of choice.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/11. Acute lymphoblastic leukemia. Possible origin from a mediastinal germ cell tumor.The case of acute lymphoblastic leukemia developing shortly after the diagnosis and treatment of a mediastinal germ cell tumor, is reported. The close temporal relationship of these two rare diseases and the presence of a population of mononuclear cells with features of lymphoblasts in the resected germ cell tumor, suggest that the leukemic process originated from the mediastinal tumor.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/11. Massive low-attenuation mediastinal, retroperitoneal, and pelvic lymphadenopathy on CT from lymphangioleiomyomatosis. Case report.lymphangioleiomyomatosis (LAM) is a rare disease of women of child-bearing age characterized by the proliferation of smooth muscle throughout the lymph nodes and lymphatic channels of the retroperitoneum, mediastinum, and lungs. Most previous reports of LAM have concentrated on the pulmonary findings. Although mediastinal and retroperitoneal lymphadenopathy is known to be a prominent feature of the disease, it is rarely imaged. We present a case of a young woman with LAM who presented with massive pelvic, retroperitoneal, and mediastinal lymphadenopathy associated with a chylous pleural effusion on the left. On computed tomography (CT) the lymphadenopathy was heterogeneous in nature but was predominantly of low attenuation. We believe that when CT demonstrates low-attenuation lymphadenopathy in the mediastinum or retroperitoneum of a woman of child-bearing age, LAM should be considered as a likely diagnosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/11. Systemic mastocytosis following mediastinal germ cell tumor: an association confirmed.A 24-year-old man had a mediastinal embryonal carcinoma containing yolk sac foci. Combination chemotherapy with cisplatin, bleomycin, etoposide, and vinblastine was given, and the residual mass was then resected. histology showed only necrotic cells. No other treatment was given. Two years later the patient presented with episodes of flushing and syncopes related to a systemicmastocytosis. bone marrow examination showed a diffuse infiltration with large, atypical mast cells often with multilobulated nuclei. The patient suffered several episodes of cardiovascular collapse and died during one of these episodes, 8 months after the diagnosis of systemic mastocytosis and 40 months after the diagnosis of mediastinal tumor. autopsy findings included the absence of mediastinal tumor and a diffuse liver and spleen mast cell infiltration. This was the second case with the similar clinicopathologic picture of two rare diseases being associated. This fact supports the hypothesis of a distinct entity, part of the mediastinal germ cell tumor/hematologic malignancy syndrome. The hypothesis of a cytokine secretion induced by mediastinal germ cell tumor supporting mast cell proliferation may be considered.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
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