Abstract
Abstract
Background
Gitelman syndrome (GS) is a rare autosomal recessive hereditary renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria.
Case presentation
We report a rare case of GS with homozygous loss of SLC12A3 presenting with epilepsy. The patient was a 21-year-old female who sought medical attention for seizures. Her condition primarily manifested as epilepsy, diarrhea, and weakness of limbs. Through genetic analysis, we confirmed the diagnosis of this case and formulated a comprehensive approach for its management.
Conclusions
This case report extends the clinical symptoms of GS and provides a complete family of GS as a reference for subsequent studies.
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
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