Case Report: Long-term follow-up of a schoolboy with Gitelman syndrome and epilepsy—causation or coincidence?

Abstract

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. A concurrent diagnosis of epilepsy in patients with GS is even rarer. Case presentation We report the case of a 12-year-old boy whose chief complaint was recurrent convulsions. Initial laboratory evaluation revealed 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 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 unclear and may represent either a causal association or a coincidental comorbidity with GS. The mechanism of the atypical dynamics of serum magnesium levels in this patient—normal levels initially followed by a subsequent decrease—warrants further investigation.

Key findings

• ▸Normal serum magnesium levels initially, which decreased during follow-up
• ▸Persistent hypokalemia, hyperaldosteronism, and hypomagnesemia
• ▸Mutations of the SLC12A3 gene confirming the diagnosis of GS

Keywords

Identifiers

DOI

10.3389/fped.2026.1772948

Journal

Frontiers in Pediatrics

Year

2026