Gitelman syndrome impacts infant developmentGitelman syndrome as a cause of psychomotor retardation in a toddler.
We examined a unique case of an 18-month-old boy diagnosed with Gitelman syndrome, a rare condition leading to developmental delays.
His symptoms included psychomotor retardation and low potassium levels. Genetic tests confirmed mutations in the SLC12A3 gene, responsible for this condition.
After oral potassium supplementation, we observed remarkable improvement in his potassium levels and developmental progress. This case highlights the importance of recognizing Gitelman syndrome in young children with growth and developmental issues, as early treatment can lead to positive outcomes.
Improved energy levels
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