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Gitelman Syndrome Presenting With Seizures and Atypical Features: A Case Series
Baiju Faizal Puthenkote1, Monica Jadhav2, Sahithi Surapaneni3
1Internal Medicine, Lifecare Hospital Musaffah, Abu Dhabi, ARE.
Cureus
|August 13, 2025
Summary
Gitelman syndrome (GS), a rare salt-losing tubulopathy, can manifest with seizures, an uncommon symptom. This case series details two patients with atypical GS presentations, highlighting diagnostic challenges.
Area of Science:
- Nephrology
- Genetics
- Internal Medicine
Background:
- Gitelman syndrome (GS) is an autosomal recessive salt-losing tubulopathy.
- It results from mutations in the SLC12A3 gene, causing hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis.
Observation:
- Two patients with Gitelman syndrome presented with seizures, a rare manifestation.
- Case 1 showed tetanic spasm, hypocalcemia, secondary hyperparathyroidism, and basal ganglia calcification.
- Case 2 presented with seizure, hypomagnesemia, and hyponatremia.
Findings:
- These cases demonstrate significant clinical heterogeneity in Gitelman syndrome.
- Seizures and other atypical features were observed in both patients.
Implications:
- Recognizing atypical presentations of Gitelman syndrome is crucial for accurate diagnosis.
- Understanding the diverse clinical spectrum aids in effective patient management and treatment strategies.
Keywords:
basal ganglia calcificationcase seriesgitelman syndromehypocalcemiahypomagnesemiahyponatremiasecondary hyperparathyroidismseizuresMore Related Videos
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