SAGE open medical case reports
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SAGE Open Med Case Rep · Jan 2014
Case ReportsLate-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy.
Ornithine transcarbamylase deficiency is the most common inherited disorder of the urea cycle, has a variable phenotype, and is caused by mutations in the OTC gene. We report three cases of ornithine transcarbamylase deficiency to illustrate the late-onset presentation of this disorder and provide strategies for diagnosis and treatment. The patients were maternal first cousins, presenting with hyperammonemia and obtundation. Urea cycle disorder was not initially suspected in the first patient, delaying diagnosis. ⋯ Regardless of age, clinical suspicion of a urea cycle disorder is important in encephalopathic patients to ensure quick diagnosis and definitive treatment of the underlying inborn error of metabolism.
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SAGE Open Med Case Rep · Jan 2014
Case ReportsHeparin-induced thrombocytopenia among patients of a comprehensive cancer center.
Most clinical studies of heparin-induced thrombocytopenia have not included cancer patients who have high risk of thromboembolism, frequent exposure to heparin, and many potential causes of thrombocytopenia other than heparin-induced thrombocytopenia. To estimate the incidence and prevalence of heparin-induced thrombocytopenia in cancer patients, we identified cases based on diagnostic codes, anti-heparin antibody testing, and clinical characteristics (4T score) at a comprehensive cancer center between 1 October 2008 and 31 December 2011. We estimated that the prevalence of heparin-induced thrombocytopenia to be 0.02% among all cancer patients and 0.24% among cancer patients exposed to heparin. ⋯ Of the 40 cancer patients with the International Classification of Diseases (Ninth Revision; ICD-9) code for heparin-induced thrombocytopenia, positive anti-heparin antibody, and 4T score ≥4, 5 (12.5%) died of related thromboembolic or hemorrhagic complications. In a multivariate logistic regression model, male gender was a significant (p = 0.035) factor, and non-hematological malignancy was a significant (p = 0.017) factor associated with anti-heparin antibody positivity. Future studies may further examine the risk factors associated with heparin-induced thrombocytopenia in larger cohorts.
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SAGE Open Med Case Rep · Jan 2014
Case ReportsSwelling of bilateral parotid glands: An unusual symptom of multisystem Langerhans cell histiocytosis.
Langerhans cell histiocytosis is an unusual disorder of unknown etiology with heterogeneous clinical behaviors and variable outcomes. It can involve one or more organs or systems, but to our best knowledge, parotid glands involvement in Langerhans cell histiocytosis is extremely rare in English literature. ⋯ Langerhans cell histiocytosis may involve any organ; in patients with parotid enlargement, Langerhans cell histiocytosis should be kept in mind in the differential diagnoses. We emphasize the importance of biopsy for histologic evaluation as soon as possible and even repeatedly if initial results are negative for Langerhans cell histiocytosis.
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SAGE Open Med Case Rep · Jan 2014
Case ReportsFour-month-old infant with intussusception presenting as altered mental status.
To remind pediatric care providers that an altered mental status can be the only presenting symptom for intussusception, a life-threatening diagnosis. ⋯ Diagnosis of intussusception in the pediatric population is highly dependent on its classical presenting signs and symptoms: sudden severe colicky abdominal pain, vomiting, and an abdominal mass in children between 3 months and 6 years of age. Consider that an altered mental status can be the only presenting symptom.