20 research outputs found

    Benign retroperitoneal schwannoma presenting as colitis: A case report

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    We report a case of a patient presenting with clinical , radiological and endoscopic features of colitis due to a compressive left para-aortic mass. Total open surgical excision was performed, which resulted in complete resolution of colitis. Histopathology and immunohistochemistry revealed benign retroperitoneal schwannoma. These neural sheath tumors rarely occur in the retroperitoneum. They are usually asymptomatic but as they enlarge they may compress adjacent structures, which leads to a wide spectrum of nonspecific symptoms, including lumbar pain, headache, secondary hypertension, abdominal pain and renal colicky pain. CT and MR findings show characteristic features, but none are specific. Schwannoma can be isolated sporadic lesions, or associated with schwannomatosis or neurofibromatosis type II (NF2). Although they vary in biological and clinical behavior, their presence is, in nearly every case, due to alterations or absence of the NF2 gene, which is involved in the growth regulation of Schwann cells. Both conditions were excluded by thorough mutation analysis. Diagnosis is based on histopathological examination and immunohistochemistry. Total excision is therapeutic and has a good prognosis. Schwannomatosis and NF2 should be excluded through clinical diagnostic criteria. Genetic testing of NF2 is probably not justified in the presence of a solitary retroperitoneal schwannoma

    Masse sternale métastatique

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    Sternal masses are rare and their differential diagnosis is relatively unknown by most of us. The management of such masses mobilize often a lot of expensive radiological means. We expose the case of a patient, where a lung carcinoma is diagnosed by a surgical biopsy of a sternal mass. We discuss the different diagnoses and the management of sternal masses.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

    Post-traumatic Bone Granuloma Caused by Retained Foreign Bodies

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    Adult polyglucosan body disease masquerading as "ALS with dementia of the Alzheimer type": An exceptional phenotype in a rare pathology

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    We describe an exceptional clinical picture, namely, cognitive impairment of the Alzheimer disease type in a man who later developed manifestations typical of amyotrophic lateral sclerosis and who was subsequently found to have adult polyglucosan body disease (APGBD) upon postmortem neuropathologic explorations. The combined occurrence of amyotrophic lateral sclerosis and cognitive impairment of the Alzheimer disease type in APGBD has not been reported before. This case also underlines the diverse clinical presentation of this rare clinicopathologic entity (namely APGBD) and highlights the importance of recognizing the unusual association of clinical features in making the diagnosis. Copyright © 2012 by Lippincott Williams & Wilkins.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

    Oesophageal lesions as first manifestation of necrotising sarcoid granulomatosis

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    Necrotising sarcoid granulomatosis is a rare disease associating sarcoid-like granulomas, vasculitis and necrosis in the lungs and seldom in extrapulmonary locations. We report the case of a 23-year-old woman with an initial symptom consisting of epigastric pain. Oesophagoscopy demonstrated oesophagitis. Evolution was marked by fever, dyspnoea and pulmonary lesions. The first presumptive diagnosis was Wegener disease but biopsies (of the lungs and the oesophagus) demonstrated the diagnosis of necrotising sarcoid granulomatosis. Evolution was favourable under corticoid therapy. Necrotising sarcoid granulomatosis may present as an extrapulmonary disease and is an important differential diagnosis of other disease such as Wegener disease.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

    Tongue necrosis as a complication of vasoconstrictor agents in the intensive care setting

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    Ostéome ostéoïde de l'os pisiforme : une cause rare de douleurs du poignet

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    Non-traumatic wrist pain remains a diagnostic challenge. An accurate diagnosis is crucial in order to choose the appropriate treatment. We report the case of a 23-year-old female with a four-month history of mainly nocturnal wrist pain. There was no history of trauma or prior surgery. Radiographs and CT scans showed a lytic lesion with central nidus and sclerotic margins in the pisiform bone. Bone scan showed increased uptake in the pisiform bone. The diagnosis of osteoid osteoma was confirmed by histopathological analysis after complete surgical resection. Osteoid osteoma of the carpal bones is a rare cause of wrist pain and can raise diagnostic issues. Diagnosis is based on both clinical and radiological features; histopathological analysis can confirm the diagnosis. Treatment depends on several criteria and multiple options are possible, but surgical excision is often preferred for the wrist. Osteoid osteoma should always be considered in young patients presenting with chronic unexplained wrist pain.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

    Multiple Endocrine Neoplasia or Accidental Association?

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    Pheochromocytoma, papillary thyroid carcinoma and hyperparathyroidism have rarely been reported together. Whether this association is coincidental or results from an unknown genetic predisposition is difficult to ascertain.We present the case of a patient who was diagnosed with pheochromocytoma, bilateral papillary thyroid carcinoma and parathyroid hyperplasia with primary hyperparathyroidism. A genetic mutation was hypothesized as the connection between these lesions. Previously described mutations were explored

    Coexistence of renal malakoplakia and myelodysplastic syndrome

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    Malakoplakia is a protean systemic chronic granulomatous disease that usually targets the genito-urinary system and most particularly the bladder. Only in rare occasions do the kidneys get involved. Myelodysplastic syndrome is a heterogeneous clonal haematopoietic disorder characterised by either a hyper- or hypocellular bone marrow dysmyelopoiesis and peripheral blood pancytopenia. The synchronous association of these two unrelated disorders has never been reported. We report a 62-year-old woman who initially developed vague, relapsing gastrointestinal symptoms synchronous with renal malakoplakia and myelodysplastic syndrome. © 2012 The Authors. Internal Medicine Journal © 2012 Royal Australasian College of Physicians.SCOPUS: ar.jFLWINinfo:eu-repo/semantics/publishe
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