ORIGINAL RESEARCH article
Front. Pediatr.
Sec. Genetics of Common and Rare Diseases
Long-term follow-up of a school boy with Gitelman Syndrome and epilepsy: Causation or coincidence?
Provisionally accepted
- The Affiliated Hospital of Qingdao University, Qingdao, China
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Introduction: Gitelman syndrome (GS) presents with a broad range of clinical manifestations. Although uncommon, seizures secondary to severe metabolic alkalosis or hypomagnesemia have been documented. Concurrent diagnosis of epilepsy in patients with GS is even rarer. Case presentation: We report a 12-year-old boy whose chief complaint was recurrent convulsions. Initial laboratory evaluation showed normal serum magnesium levels, which subsequently decreased during follow-up. Persistent hypokalemia, hyperaldosteronism, and hypomagnesemia in subsequent disease course, as well as mutations of the SLC12A3 gene, confirmed the diagnosis of GS. Based on long-term monitoring of seizure episodes, electroencephalogram (EEG) findings, and the electrolyte levels during an epileptic seizure, a diagnosis of epilepsy was established. His seizures were well controlled with levetiracetam. Conclusion: We report a case of GS presenting with convulsions as the chief complaint. The etiology of epilepsy in this case remains unexplained and may represent either a causal association or a coincidental comorbidity with GS. Mechanism of the atypical dynamics of serum magnesium levels in this patient, normal initially followed by a subsequent decrease, warrant further investigation.
Keywords: Epilepsy, Gitelman Syndrome, Hypokalemia, hypomagnesemia, SLC12A3 gene
Received: 22 Dec 2025; Accepted: 11 Feb 2026.
Copyright: © 2026 Xue, Zhang, Zhao, Li, Yang, Yi, Liu and Song. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Zhenfeng Song
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