Cases reported "Rare Diseases"

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1/16. A rare case of pulmonary bronchogenic cyst associated with bronchial atresia in the same lobe.

    A rare case of 49-year-old woman having pulmonary bronchogenic cyst associated with bronchial atresia in the same lobe was presented. The diagnosis was confirmed by aortography and operation specimen. Three-dimensional reconstructed images of computed tomography clearly demonstrated the defference between mucoid impaction of bronchial trees in the left S9 not communicating with hilar bronchus and the cyst in the left S10 oppressing surrounding vessels.
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keywords = vessel
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2/16. 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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ranking = 8.4796743389937
keywords = blood vessel, vessel
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3/16. Popliteal vascular entrapment syndrome caused by a rare anomalous slip of the lateral head of the gastrocnemius muscle.

    Popliteal vascular entrapment syndrome can result in calf claudication, aneurysm formation, distal arterial emboli, or popliteal vessel thrombosis. The most commonly reported causes of this syndrome have been anomalies of the medial head of the gastrocnemius muscle as it relates to the course of the popliteal artery. We report two cases of rare anomalous slips of the lateral head of the gastrocnemius muscle causing popliteal vascular entrapment syndrome.
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keywords = vessel
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4/16. Thrombosed giant intracavernous aneurysm with subsequent spontaneous ipsilateral carotid artery occlusion.

    We report a case of a 47-year-old man with a giant thrombosed aneurysm of the right cavernous internal carotid artery who initially presented with headache, double vision and trigeminal numbness. He experienced subsequent asymtomatic proximal occlusion of the parent vessel, revealed by follow-up angiography. This case illustrates the possibility that a giant thrombosed aneurysm may exert enough compression upon the parent vessel to induce flow stasis with resultant intraluminal thrombosis progressing to occlude the entire parent artery.
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keywords = vessel
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5/16. An unusual presentation of giant cell arteritis.

    A 77-year-old-man with giant cell arteritis who developed bitemporal scalp ulcerations is described. Since 1946 when Cooke et al. reported the first case of scalp necrosis there were approximately 55 cases published. scalp ulceration is a rare complication of giant cell arteritis and occurs mainly in elderly persons, particularly women. About half of all patients were presented to dermatologists. Most of the patients (70%) had other serious complications of giant cell arteritis: blindness, gangrene of the tongue and nasal septum necrosis. Seventy percent of the cases were confirmed by a temporal artery biopsy. The necrosis were of varying extent and uni- or bilateral. Although, in most cases necrosis has been located bilaterally as in the presented case. scalp healing was complete nearly in all patients by conservative treatment within a year. scalp ulceration is a potentially reversible complication of giant cell arteritis which indicates extensive vessel involvement and adequate coricosteroid therapy is required and essential.
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6/16. Mediastinal cystic lymphangioma: is resection always necessary?

    Mediastinal cystic lymphangiomas are rare tumours. Usually asymptomatic, they can be complicated by a chylopericardium or/and chylothorax. We report a case of a left lesion infiltrating through the supra-aortic vessels complicated with a iatrogenic left chylothorax managed by bilateral video-assisted thoracoscopy at the same time. First, on the right, the chylous inflow was stopped by suturing the thoracic duct; then, on the left, a fenestration was done to confirm the diagnosis and treat the lesion while preserving the adjacent structures.
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7/16. Diagnostic modalities for the evaluation of anomalous left main coronary arteries.

    Anomalous coronary arteries are rare and usually identified as an incidental finding during cardiac catheterization. The particular difficulty with cardiac catheterization techniques is not necessarily the presence of the anomalous coronary artery, but its anatomic course. Oftentimes, surgical intervention is necessary once these anomalies are discovered. The identification and anatomic characterization of anomalous coronary arteries has been significantly advanced with the use of current diagnostic noninvasive imaging modalities. We present 3 cases of an anomalous left main coronary artery that arises from the right sinus of Valsalva. Noninvasive imaging methods provided a clear anatomic course of the anomalous vessel.
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keywords = vessel
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8/16. fabry disease--a diagnostic and therapeutic problem.

    The authors present a patient with Fabry syndrome that remained undiagnosed for several years. Fabry syndrome is a genetic disease related to changes on the x chromosome. Its complex clinical presentation and diverse symptomatology is caused by deficient activity of lysosomal hydrolase alpha-galactosidase enzyme. Defect in the basic alpha-galactosidase molecule implies genetic change, which can be a predisposing factor for the development of atypical and typical forms of this genetic disease. In the presented case, clinical manifestation and hemizygous symptomatology were the evidence of metabolic and genetic irregularity, typical clinical presentation of fabry disease. Many authors report generalized vasculopathy as a basic characteristic of fabry disease and a causative factor of multiorgan changes. Some authors indicate that persons with diagnosed asymmetric hypertrophy of the left ventricle have decreased alpha-galactosidase. Cardiac complications, coronary disease, and acute myocardial ischemia are often present in cases of fabry disease, frequently causing death in such patients. Characteristic central nervous system symptoms with skin-burning sensation and paresthesia were also present in our case. Cerebrovascular complications were caused by changes on small blood vessels. Clinical signs of renal failure were nonspecific, and the diagnosis was based on extrarenal symptoms. Initial renal manifestations were insignificant as asymptomatic proteinuria and microhematuria, due to which our patient was referred to further examination. The level of alpha-galactosidase was significantly decreased. The severity and progression of this disease depends on the level of alpha-galactosidase enzyme in serum and its catabolic effect. More recent studies have showed that deficient enzyme can be synthetic zed and, accordingly our patient has been successfully enrolled in the replacement therapy program.
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ranking = 8.4796743389937
keywords = blood vessel, vessel
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9/16. osteochondroma causing diaphragmatic rupture and bowel obstruction in a 14-year-old boy.

    Exostosis, also known as osteochondroma, results from a disorder of the growth-plate where bone grows away from the growth axis and forms an irregular projection. This abnormality most commonly occurs around the femur, scapula, humerus, and ribs. Although hemothorax and diaphragmatic rupture are known complications of exostosis growth, we present herein the first known report of an inward-facing exostosis in a 14-year-old boy with hereditary multiple exostosis causing diaphragmatic rupture and a bowel obstruction requiring operation. Most exostoses are asymptomatic and as such require no further treatment. However, when they are threatening to cause mass effects (such as frictional bursitis, local entrapment of vessels, and tendons or nerves) or symptomatic, surgical resection is the appropriate treatment.
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10/16. skin vasculitis during Creutzfeldt-Jakob's disease.

    We report the case of a 72-year-old woman with sporadic Creutzfeldt-Jakob's disease who presented a large purplish erythematous and edematous lesion, with subsequent bullous detachment on the anterior right thigh. The lesion rapidly evolved into an ulcer covered by a blackish necrotic eschar. Histological examination showed intense necrotizing leukocytoclastic vasculitis in the deep and middle dermis. Direct immunofluorescence revealed C3 and IgM deposits around vessels of the middle and deep dermis. The diagnosis of sporadic Creutzfeldt-Jacob's was confirmed post-mortem by immunoblotting on frozen brain tissue which showed pathologic proteinase-resistant prion-related protein isoform glycotype 2A. In the literature, only two cases of Creutzfeldt-Jakob's disease and cutaneous manifestations are reported.
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