A Case of Gitelman Syndrome Associated with Idiopathic Intracranial Hypertension

Hiromi Tsutsui; Tadanori Hamano; Yukiko Kawaura; Satoru Inaba; Isamu Miyamori; Minoru Yasujima; Makoto Yoneda; Masaru Kuriyama

doi:10.2169/internalmedicine.50.5305

CASE REPORTS

A Case of Gitelman Syndrome Associated with Idiopathic Intracranial Hypertension

Hiromi Tsutsui, Tadanori Hamano, Yukiko Kawaura, Satoru Inaba, Isamu Miyamori, Minoru Yasujima, Makoto Yoneda, Masaru Kuriyama

Author information

Hiromi Tsutsui
The Second Department of Internal Medicine, Division of Neurology, University of Fukui, Japan
Tadanori Hamano
The Second Department of Internal Medicine, Division of Neurology, University of Fukui, Japan
Yukiko Kawaura
The Second Department of Internal Medicine, Division of Neurology, University of Fukui, Japan
Satoru Inaba
The Third Department of Internal Medicine, Faculty of Medical Sciences, University of Fukui, Japan
Isamu Miyamori
The Third Department of Internal Medicine, Faculty of Medical Sciences, University of Fukui, Japan
Minoru Yasujima
Department of Laboratory Medicine, Hirosaki University Graduate School of Medicine, Japan
Makoto Yoneda
The Second Department of Internal Medicine, Division of Neurology, University of Fukui, Japan
Masaru Kuriyama
The Second Department of Internal Medicine, Division of Neurology, University of Fukui, Japan

Keywords: idiopathic intracranial hypertension, Gitelman syndrome, SLC12A3 gene

JOURNAL OPEN ACCESS

2011 Volume 50 Issue 14 Pages 1493-1496

DOI https://doi.org/10.2169/internalmedicine.50.5305

Details

Abstract

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 demonstrated high pressure (over 320 mmH₂O) with normal cytochemistry. Brain MRI was normal. She showed mild alkalosis, hypokalemia, hypomagnesemia, increased plasma renin activity, and normal 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.

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