# Gitelman Syndrome Presenting With Seizures and Atypical Features: A Case Series

## TL;DR

This paper presents two rare cases of Gitelman syndrome with seizures and unusual symptoms, highlighting the varied ways this condition can appear.

## Contribution

The study adds to the understanding of Gitelman syndrome by documenting atypical seizure presentations.

## Key findings

- Two patients with Gitelman syndrome presented with seizures, a rare manifestation of the condition.
- Clinical heterogeneity in Gitelman syndrome was observed through distinct atypical features in each case.

## Abstract

Gitelman syndrome (GS) is a rare autosomal recessive salt-losing tubulopathy caused by mutations in the SLC12A3 gene, leading to hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. We present a case series of two patients with GS, both presenting with seizures, a rare manifestation, alongside distinct atypical features. Case 1, a 35-year-old male, exhibited tetanic spasm, hypocalcemia, secondary hyperparathyroidism, and basal ganglia calcification. Case 2, a 55-year-old male with a history of coronary artery disease, presented with seizure, hypomagnesemia, and hyponatremia. These cases highlight the clinical heterogeneity of GS, emphasizing the importance of considering atypical presentations and their implications for diagnosis and management.