Advertisement

Gitelman syndrome presenting with cerebellar ataxia: a case report

  • Cenk GokalpEmail author
  • Ceren Cetin
  • Sahin Bedir
  • Soner Duman
Letter to the Editor

Introduction

Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria [1]. 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.

Case...

Keywords

Gitelman syndrome Hypomagnesemia Hypokalemia Cerebellitis Ataxia 

Notes

Author contributions

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

Informed consent was obtained from all individual participants included in the study.

References

  1. 1.
    Gitelman HJ, Graham JB, Welt LG (1966) A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Phys 79:221–235Google Scholar
  2. 2.
    Simon DB et al (1996) Gitelman’s variant of Bartter’s syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 12(1):24–30CrossRefGoogle Scholar
  3. 3.
    Ji W et al (2008) Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 40(5):592–599CrossRefGoogle Scholar
  4. 4.
    Shaer AJ (2001) Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes. Am J Med Sci 322(6):316–332CrossRefGoogle Scholar
  5. 5.
    Boulos MI et al (2012) Severe hypomagnesemia associated with reversible subacute ataxia and cerebellar hyperintensities on MRI. Neurologist 18(4):223–225CrossRefGoogle Scholar
  6. 6.
    Te Riele MG, Verrips A (2014) Severe hypomagnesaemia causing reversible cerebellopathy. Cerebellum 13(5):659–662CrossRefGoogle Scholar

Copyright information

© Belgian Neurological Society 2019

Authors and Affiliations

  1. 1.Department of Nephrology, School of MedicineEge UniversityIzmirTurkey
  2. 2.Department of Neurology, School of MedicineEge UniversityIzmirTurkey
  3. 3.Department of Internal MedicineSchool of MedicineIzmirTurkey

Personalised recommendations