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

TL;DR

A 12-year-old boy with Gitelman syndrome and epilepsy is reported, raising questions about whether the epilepsy is caused by the syndrome or is a coincidence.

Contribution

This case report highlights a rare co-occurrence of Gitelman syndrome and epilepsy, suggesting a potential but unproven causal link.

Findings

The patient's seizures were controlled with levetiracetam.

The patient's serum magnesium levels were initially normal but later decreased.

The etiology of epilepsy in this case remains unclear.

Abstract

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.

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.

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.