Abstract
Posterior reversible encephalopathy syndrome (PRES) is characterized by headache, seizures, altered mental status, and visual disturbance. It is diagnosed by the presence of both clinical symptoms and radiographic findings on the parietal–occipital lobes. We here report a 61-year-old woman with non-compensative liver cirrhosis and chronic kidney disease, presenting with uremia-induced PRES. She expressed loss of consciousness and subsequent visual disturbance, during the progression of uremia. She was treated with hemodiafiltration therapy, and the symptoms of PRES fully improved. The case is of particular interest, in that the appearance of abnormal findings on magnetic resonance imaging was delayed more than 2 weeks, as compared to that of clinical symptoms. The etiology of chronic kidney disease in the patient was considered to be autosomal recessive polycystic kidney disease, and we performed DNA sequencing analysis on the polycystic kidney and hepatic disease 1 gene. Two homozygous missense mutations were found in the patient and may combinatorially affect the disease. This case raises a possibility that the incidence of PRES is much higher if the radiological examination is performed more frequently.
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Yoshida, T., Hiratsuka, K., Yamashita, M. et al. Posterior reversible encephalopathy syndrome in a uremic patient with autosomal recessive polycystic kidney disease. CEN Case Rep 4, 238–242 (2015). https://doi.org/10.1007/s13730-015-0176-z
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DOI: https://doi.org/10.1007/s13730-015-0176-z