A case of Bartter's syndrome associated with nephrocalcinosis presenting with tetany

Abstract

A 10-year-old boy was admitted to hospital with a 3 month history of intermittent spasms of the wrists and ankles, and twitching of the eyelids. He also had polyuria, polydipsia, nocturnal enuresis, fatigue and constipation since he was a toddler. Physical examination revealed normal blood pressure, myokymia on the right eyelid and bilateral carpopedal spasms. Laboratory investigation revealed hypocalcemia, hypokalemia, increased plasma renin and aldosterone , hypercalciuria, metabolic alkalosis, and bilateral medullary nephrocalcinosis. Cranial computed tomography was normal. Based on the clinical and laboratory findings he was diagnosed as having Bartter’s syndrome, which is characterized by hypochloremia, hypokalaemia and metabolic alkalosis associated with potassium renal leakage, with normal blood pressure despite increased plasma renin activity. It is well known that tetany is not uncommon in the neonatal form of Bartter’s syndrome and nephrocalcinosis is usually not present in the classic form. Interestingly, our patient had both the clinical manifestations of the neonatal form and of the classic form of Bartter’s syndrome. In conclusion, we would like to emphasize that both the clinical manifestations of neonatal and classic forms of Bartter’s syndrome (as an overlapping syndrome) might be seen in children and that Bartter’s syndrome should also be considered in children with tetany as in our case. (J Pediatr Neurol 2004; 2 (1): 45-47).