Gitelman syndrome presenting with cerebellar ataxia: a case report
Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria . The disease is recessively inherited, caused by inactivating mutations in the SLC12A3 gene encoding the thiazide-sensitive sodium-chloride cotransporter. Gitelman’s syndrome is diagnosed in childhood or adulthood often because of weakness, tetany, or joint pain. Other major symptoms of Gitelman syndrome are dizziness, fatigue, cramps, paresthesia, non-specific pain, and arthropathy due to chondrocalcinosis. Patients with Gitelman syndrome have milder renal salt wasting and often have normal or only slightly low blood pressures. Hypokalemia and metabolic alkalosis are important to the diagnosis and, as mentioned earlier, hypomagnesemia and hypocalciuria are relatively common in contrast with Bartter syndrome.
We present a rare case of chronic hypomagnesemia due to Gitelman syndrome which presented with acute cerebellitis.
KeywordsGitelman syndrome Hypomagnesemia Hypokalemia Cerebellitis Ataxia
CG: literature search, collecting data, writing and editing the manuscript (nephrologist, specialist). CC: literature search, collecting data, writing and editing the manuscript (neurologist, resident). SB: collecting data, writing and editing the manuscript (internist, resident). SD: writing and editing the manuscript (internist, professor).
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
Informed consent was obtained from all individual participants included in the study.
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