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

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.