An Unusual Presentation of Failure to Thrive in a Toddler: Bartter Syndrome

TL;DR

A toddler with unusual symptoms was diagnosed with Bartter syndrome, highlighting the need for careful evaluation in cases of failure to thrive.

Contribution

This case report presents a rare pediatric manifestation of Bartter syndrome with unique clinical features.

Findings

An 18-month-old male toddler presented with failure to thrive, polydipsia, and polyuria.

Genetic testing confirmed Bartter syndrome, and treatment with indomethacin and potassium supplementation was initiated.

The case underscores the importance of considering rare disorders in children with unexplained growth failure.

Abstract

Bartter syndrome is a rare salt-wasting renal tubular disorder of autosomal-recessive inheritance. Antenatal Bartter syndrome (types I, II, and IV) manifests in infancy and has a more severe course compared to the classic Bartter syndrome (type III). This report details a unique instance of a male toddler, aged 18 months, who presented with failure to thrive, polydipsia, and polyuria. Blood gases revealed hypochloremic metabolic alkalosis with hyponatremia and hypokalemia. The diagnosis was confirmed by genetic testing, and the child was started on indomethacin and potassium supplementation. Despite being rare in children, this case report emphasizes the importance of looking beyond the usual in a child who presents with failure to thrive to prevent a delay in the diagnosis and treatment.

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