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A 14-week-old boy presented with lethargy, poor oral intake and polyuria. There was no history of fever, vomiting or diarrhoea, although he had been previously admitted for dehydration without apparent cause. He was born to consanguineous parents and his mother had a history of previous abortion. Birth weight was 3.5 kg. Physical examination revealed a lethargic and irritable infant with severe dehydration. He weighed 3 kg at presentation, which was below the 3rd percentile for age. Other anthropometric measurements were around the 50th percentile (length 58 cm, occipitofrontal circumference 40 cm). The results of other examinations were unremarkable. Biochemical investigation revealed metabolic alkalosis, hypokalaemia and hypochloraemia. Ultrasound and other investigations were normal, although the calcium level was in the upper normal range at presentation, which might have been due to the uses of tonics containing vitamin D; hence he was a case of failure to thrive before the diagnosis of Bartter was considered (Table 1). It was noticed that he continued to have dehydration despite being on intravenous fluid therapy. At this stage a diagnosis of neonatal Bartter syndrome was considered in view of persistent hypokalaemia and metabolic alkalosis in a baby with failure to thrive and polyuria. The patient was treated with oral potassium 1.5 meq/kg, spironolactone 3 mg/kg and indomethacin 2 mg/kg. He showed adequate weight gain and after 6 months his weight reached 6.5 kg, which was still suboptimal. Consistently normal levels of serum electrolytes were found (Table 1).

Bartter syndrome presenting as poor weight gain and dehydration in an infant