São Paulo medical journal = Revista paulista de medicina
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Review Case Reports
Paraganglioma of seminal vesicle and chromophobe renal cell carcinoma: a case report and literature review.
Extra-adrenal paragangliomas are rare tumors that have been reported in many locations, including the kidney, urethra, urinary bladder, prostate, spermatic cord, gallbladder, uterus and vagina. ⋯ No genetic alterations to the VHL and SDHB genes were detected in either the tumor tissue or tissues adjacent to the tumor, which led us to rule out a hereditary syndrome that could explain the association between paraganglioma and chromophobe renal cell carcinoma in a patient with arterial hypertension.
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Review Case Reports
Leukocyte adhesion deficiency syndrome: report on the first case in Chile and South America.
Adhesion molecule deficiency type 1 is a rare disease that should be suspected in any patient whose umbilical cord presents delay in falling off, and who presents recurrent severe infections. Early diagnostic suspicion and early treatment improve the prognosis. ⋯ The case of a four-month-old boy with recurrent hospitalizations because of severe bronchopneumonia and several episodes of acute otitis media with non-purulent drainage of mucus and positive bacterial cultures is presented. His medical history included neonatal sepsis and delayed umbilical cord detachment. Laboratory studies showed marked leukocytosis with predominance of neutrophils and decreased CD11b and CD18. These were all compatible with a diagnosis of leukocyte adhesion deficiency type I [LAD type 1].
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Review Case Reports
Stridor and respiratory failure due to tracheobronchomalacia: case report and review of the literature.
Tracheobronchomalacia (TBM) results from structural and functional abnormalities of the respiratory system. It is characterized by excessive collapse: at least 50% of the cross-sectional area of the trachea and main bronchi. In this paper, we present a rare case of a patient with TBM who first presented with stridor and respiratory failure due to exacerbation of chronic bronchitis. ⋯ TBM is fatal and often underdiagnosed. In COPD patients, stridor and respiratory failure may be helpful signs that should alert physicians to consider TBM as an early diagnosis. Thus, these signs may be important for optimizing the treatment and evolution of such patients.