Journal of medical case reports
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Mutations in both alleles of the cystic fibrosis transmembrane conductance regulator gene result in the disease cystic fibrosis, which usually manifests as chronic sinopulmonary disease, pancreatic insufficiency, elevated sodium chloride loss in sweat, infertility among men due to agenesis of the vas deferens and other symptoms including liver disease. ⋯ Despite a prevailing idea in cystic fibrosis research that the amount of functional cystic fibrosis transmembrane conductance regulator predicts clinical status, our results indicated that respiratory disease severity in cystic fibrosis exhibits phenotypic heterogeneity. If this heterogeneity is, in part, genetic, it is most likely derived from genes outside the cystic fibrosis transmembrane conductance regulator locus.
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Hughes-Stovin syndrome is a very rare disease with fewer than 30 cases reported in the literature. The disease is thought to be a variant of Behcet's disease and is defined by the presence of pulmonary artery aneurysm in association with peripheral venous thrombosis. ⋯ The majority of cases of Hughes-Stovin syndrome are reported among men, with only two cases occurring in women. A case of Hughes-Stovin syndrome occurring in a woman is presented in this report. She was treated successfully with multimodality treatment that includes surgery, steroids and cytotoxic agents.
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Birt-Hogg-Dubé syndrome is a rare genodermatosis characterized by hair follicle hamartomas, renal tumors and spontaneous pneumothorax. We present the case of a patient with pulmonary cysts and recurrent spontaneous pneumothorax. She had typical skin lesions, and was found to have a hybrid oncocytoma which was surgically excised. ⋯ It is important to consider a possible diagnosis of Birt-Hogg-Dubé syndrome in cases of recurrent pneumothorax. Affected individuals must be screened for renal tumors, a potentially lethal consequence of this syndrome.
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Fetus in fetu is an extremely rare condition wherein a malformed fetus is found in the abdomen of its twin. This entity is differentiated from teratoma by its embryological origin, its unusual location in the retroperitoneal space, and the presence of vertebral organization with limb buds and well-developed organ systems. The literature cites less than 100 cases worldwide of twin fetus in fetu. ⋯ Fetus in fetu is an extremely rare condition. Before any operation is carried out on a patient, imaging studies should first be conducted to differentiate this condition from teratoma. Surgical excision is a curative procedure, and a macroscopic examination of the sac should be done after twin or multiple fetus in fetu are excised.
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Paraneoplastic limbic encephalitis remains a challenging clinical diagnosis with poor outcome if it is not recognized and treated early in the course of the disease. ⋯ Early recognition of paraneoplastic limbic encephalitis and prompt intervention with immune therapies at the onset of presentation will probably translate into more favorable neurological outcomes.