Journal of medical case reports
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Case Reports
Young-onset sporadic Creutzfeldt-Jakob disease with atypical phenotypic features: a case report.
Sporadic Creutzfeldt-Jakob disease, with a mean survival of 6 months, is duly considered among the most fatal neurological disorders. Rapidly progressive dementia with multi-axial involvement of the nervous system is the known presentation. Although, the peak age at onset is between sixth and eighth decades, cases of young-onset sporadic Creutzfeldt-Jakob disease have also been reported in the literature. Interestingly, these young-onset cases were reported to have some features distinct from their older age group counterparts, such as slower progression as well as longer duration of illness, dominance of psychiatric manifestations at the onset, and relatively less prevalence of radiological and electroencephalographic abnormalities. ⋯ Our patient represents an atypical clinical situation as she is much younger than the usual presentation of Creutzfeldt-Jakob disease and it progressed far too rapidly. Cognitive decline came late in the temporal sequence of clinical events; rather, the onset was dominated by features consistent with cerebellar ataxia and basal ganglia involvement. The presence of magnetic resonance imaging abnormality and electroencephalography changes are other rare findings in young-onset sporadic Creutzfeldt-Jakob disease.
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Case Reports
Peripheral and central nervous system involvement in a patient with primary Sjögren's syndrome: a case report.
Primary Sjögren's syndrome is the second most common rheumatological disorder after rheumatoid arthritis. It typically presents as xerophthalmia and xerostomia in postmenopausal women. Involvement of the central nervous system has been recognized, although its pathogenesis and characteristics are poorly understood. Central nervous system complications are a diagnostic challenge and emphasize the need for systematic screening of patients with new peripheral and central neurological symptoms. ⋯ Even though exocrinopathy is the hallmark of Sjögren's syndrome, systemic symptoms are observed in one-third of patients. There is an urgent need to better characterize the mechanisms underlying different disease phenotypes and to perform randomized controlled trials in order to provide tailored and evidence-based treatment for primary Sjögren's syndrome.
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Takotsubo cardiomyopathy is characterized by chest symptoms, electrocardiographic changes, and new regional wall motion abnormality in the apical segment of the left ventricle in the absence of obstructive coronary artery disease. Particularly, apical ballooning is broadly recognized as the classic form of takotsubo cardiomyopathy. Although the prognosis of most patients with takotsubo cardiomyopathy is generally favorable, complications associated with the morphological features of transient apical ballooning are not uncommon. ⋯ The presented cases indicated that important complications, such as intraventricular thrombus and severe mitral regurgitation, are associated with takotsubo cardiomyopathy in the acute phase. Because these complications are risk factors for developing a thromboembolic event or heart failure and/or pulmonary edema, timely and accurate identification of these complications is critical to achieving optimal clinical outcomes in patients with takotsubo cardiomyopathy.
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Case Reports
Kawasaki disease triggered by parvovirus infection: an atypical case report of two siblings.
There are reports of the familial occurrence of Kawasaki disease but only a few reports described Kawasaki disease in siblings. However, the familial cases were not simultaneous. In these patients the idea of infective agents as trigger must be considered. ⋯ We report on familial Kawasaki disease in two siblings which had the same infectious trigger (a documented parvovirus infection). The brother was diagnosed as having post-viral myocarditis. However, in view of the two different and simultaneous evolutions, the girl showed Kawasaki disease with late coronary artery lesions and aneurysms, whereas the brother showed Kawasaki shock syndrome with myocardial dysfunction. We stress the effectiveness of anakinra in non-responder Kawasaki disease and the efficacy on coronary aneurysms.
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Papillary thyroid carcinoma is the most common endocrine malignancy. Distant metastasis from differentiated thyroid carcinoma is infrequent and the metastasis rate of papillary thyroid carcinoma is lower than that of follicular thyroid carcinoma. Distant metastases from differentiated thyroid carcinoma are usually seen in the lungs and bones; however, renal metastasis is very rare. ⋯ Our patient was surprisingly still alive after metastatic disease was diagnosed 10 years ago and she had no major complaint other than a draining mass on her neck. Our primary aim by sharing this case is to underline potential renal metastasis from papillary thyroid carcinoma. In other words, when approaching primary renal tumors, possible distant metastases of other organs need to be kept in mind for differential diagnosis. In addition, it should be noted that if managed appropriately, the long-term survival in patients with papillary thyroid carcinoma with multiple organ metastases could be encouraging.