title: A case of Gitelman syndrome associated with idiopathic intracranial hypertension.
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 mmH(2)O) 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.
authors.affiliation: The Second Department of Internal Medicine, Division of Neurology, University of Fukui, Japan.
authors.forename: Hiromi
authors.initials: H
authors.lastname: Tsutsui
authors.forename: Tadanori
authors.initials: T
authors.lastname: Hamano
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Kawaura
authors.forename: Satoru
authors.initials: S
authors.lastname: Inaba
authors.forename: Isamu
authors.initials: I
authors.lastname: Miyamori
authors.forename: Minoru
authors.initials: M
authors.lastname: Yasujima
authors.forename: Makoto
authors.initials: M
authors.lastname: Yoneda
authors.forename: Masaru
authors.initials: M
authors.lastname: Kuriyama
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D053579:Gitelman Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense; D011559:Pseudotumor Cerebri / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D011955:Receptors, Drug / Q000235:genetics; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters / Q000235:genetics
chemical_list: D011955:Receptors, Drug; C578874:SLC12A3 protein, human; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters