A Case of Gitelman Syndrome Associated with Idiopathic Intracranial Hypertension
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概要
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An 18-year-old woman with Gitelman syndrome (GS) associated with idiopathic intracranial hypertension (IIH) is described. She was obese and showed a 10 kg gain in body weight over a period of 8 months. She presented with headache, vomiting, and diplopia. She had bilateral papilledema, and right abducens palsy. CSF examination demon strated high pressure (over320mmH2O) with normal cytochemistry. Brain MRI was normal. She showed mild alkalosis, hypokalemia, hypomagnesemia, increased plasma reni nactivity, and nor-mal blood pressure. Two heterozygous mutations in the SLC12A3 gene were identified. Therefore, she was diagnosed as GS with IIH. We should keep in mind the possible occurrence of IIH in GS.
著者
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Kuriyama Masaru
The Second Department of Internal Medicine (Neurology Division), Faculty of Medical Science, Univers
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Yoneda Makoto
Department Of Gene Therapy Research Gifu International Institute Of Biotechnology
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Miyamori Isamu
The Third Department Of Internal Medicine Fukui Medical University
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Yasujima Minoru
Department of Laboratory Medicine, Hirosaki University Graduate School of Medicine, Japan
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Kuriyama Masaru
The Second Department of Internal Medicine, Division of Neurology, University of Fukui, Japan
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TSUTSUI Hiromi
The Second Department of Internal Medicine, Division of Neurology, University of Fukui, Japan
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KAWAURA Yukiko
The Second Department of Internal Medicine, Division of Neurology, University of Fukui, Japan
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INABA Satoru
The Second Department of Internal Medicine, Division of Neurology, University of Fukui, Japan
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YASUJIMA Minoru
The Third Department of Internal Medicine, Faculty of Medical Sciences, University of Fukui, Japan
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Miyamori Isamu
The Third Department of Internal Medicine, Faculty of Medical Sciences, University of Fukui, Japan
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Inaba Satoru
The Third Department of Internal Medicine, Faculty of Medical Sciences, University of Fukui, Japan
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Yoneda Makoto
The Second Department of Internal Medicine, Division of Neurology, University of Fukui, Japan
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- A Case of Gitelman Syndrome Associated with Idiopathic Intracranial Hypertension