Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
Gitelman's Syndrome with Mental Retardation
Rena MoritaKaoru TakeuchiAkinobu NakamuraToshihiro TajimaYoshihiko Kuroda
Author information
JOURNALS OPEN ACCESS

2006 Volume 45 Issue 4 Pages 211-213

Details
Abstract

A 56yearold mentally retarded Japanese woman (intelligence quotient: 49) was admitted to our hospital with the chief complaints of headache, dizziness, vomiting, and lower limb paralysis. Laboratory tests showed severe hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. These findings suggested a diagnosis of Gitelman's syndrome (GS). We examined the thiazidesensitive NaCl cotransporter (TSC) gene for the mutations that can be responsible for Gitelman's syndrome, and confirmed the diagnosis. After potassium and magnesium supplementation, her paralysis improved dramatically. The marriage of her parents was consanguineous. She had nine siblings (all with mental retardation), among whom five had died of unknown causes during childhood. Familial mental retardation has never been detected before in Gitelman's syndrome. Here we report a rare case of Gitelman's syndrome with familial mental retardation.

Information related to the author
© 2006 by The Japanese Society of Internal Medicine
Previous article Next article
feedback
Top