Bartter syndrome is a genetic condition characterized by autosomal recessive inheritance, resulting in impaired salt reabsorption and clinical manifestations such as low/normal blood pressure and extracellular fluid volume depletion. Multiple abnormalities of the electrolytes, including decreased potassium as well as chloride levels and, in some instances, hypomagnesemia, are its defining features. Metabolic alkalosis, hypokalaemia, hypocalcemia, and hypomagnesemia, together with adequate renal function, are all components of the Bartter-like syndrome. It is associated with certain antibiotics and antineoplastic drugs. We report a case of traumatic brain injury with pneumothorax who was on treatment on colistin and presented with metabolic disturbance.

Bartter\'s syndrome (BS) is a disorder caused by a group of rare mutations that result in defective salt reabsorption in the thick ascending loop of Henle. BS is characterized by salt wasting, hypokalemia, and metabolic alkalosis, among other abnormalities. A MAGE-D2 mutation results in an X-linked form of BS. It results in a transient antenatal presentation that is observed to completely resolve by early infancy, usually occurring in males. We present a case of an adult female with intermittent recurrence of symptoms and metabolic derangements consistent with BS. She also has a family history of polyhydramnios and renal disease. Genetic testing later confirmed a novel MAGE-D2 mutation. Her atypical presentation emphasizes the heterogenous presentation of the different mutations and raises the possibility of persistence of abnormalities beyond infancy in mutations of the MAGE-D2 gene.