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KMID : 0359920120310010076
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Korean Journal of Nephrology
2012 Volume.31 No. 1 p.76 ~ p.78
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Inherited protein S deficiency due to a novel nonsense mutation in the PROS1 gene in the patient with recurrent vascular access thrombosis: A case report
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Suh Sang-Heon
Choi Young-Hwan
Kim Chang-Seong
Choi Joon-Seok
Park Jeong-Woo
Bae Eun-Hui
Ma Seung-Kwon
Kim Byeong-Chae
Kim Soo-Wan
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Abstract
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We report an unusual case of probable Creutzfeldt?Jakob disease (CJD) in hemodialysis patient. A woman 59 years of age with a past history of hypertension and end-stage renal disease presented with a stuporous state preceded by rapidly progressive cognitive dysfunction, myoclonus, and akinetic mutism. At first, the cause of the altered mental status was assumed to be uremic or hypertensive encephalopathy combined with fever. Proper managements, however, did not improve the neurologic symptoms. Diffusion-weighted magnetic resonance imaging revealed bilaterally asymmetric high signal intensity in both basal ganglia and cerebral cortices. Electroencephalography showed diffuse generalized theta-todelta range slow wave and intermittent medium-to-high voltage complexes with a characteristic triphasic pattern on both hemispheres. Cerebrospinal fluid assay for the 14-3-3 protein was positive and diagnostic of CJD.
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KEYWORD
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Creutzfeldt-Jakob disease, Dialysis, Hypertensive encephalopathy
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