Introduction: Bartter syndrome (BS) is a rare genetic renal tubular disorder characterized by hypokalemia, salt-wasting and metabolic alkalosis. Polyuria, polydipsia, hypokalemia and salt loss are responsible for the growth retardation seen in BS. Persistent growth failure despite optimizing medical therapy may be due to growth hormone (GH) deficiency.
Case diagnosis and treatment: A 9-year-old girl diagnosed with Bartter syndrome was referred for evaluation of severe short stature (92.5 cm, -7.7 standard deviation). Classical BS was diagnosed when she presented with typical clinical manifestations and characteristic biochemical abnormalities at 4 months of age. Her medical therapy consisted of indomethacin, salt and potassium supplements. Her bone age was markedly delayed and glucagon-stimulated growth hormone level showed a peak of 2.9 ng/dL. Thyroid hormone and cortisol levels were normal. Magnetic resonance imaging showed a dilated suprasellar cistern communicating with dilated 3rd ventricles, with no contrast enhancement elucidated; suggestive of a suprasellar arachnoid cyst. The dilated structures minimally compressed the pituitary gland. She showed excellent response to recombinant growth hormone therapy. The absence of obstructive symptoms did not warrant an immediate neurosurgical intervention.
Conclusions: The case indicates a possible association of suprasellar arachnoid cyst in BS not previously reported. Furthermore, the importance of evaluating for GH deficiency in children with persistent growth retardation to conventional therapies of BS is highlighted.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology