Pituitary stalk interruption with multiple pituitary hormone deficiencies associated with a <i>roundabout guidance receptor 1</i> gene mutation

Pituitary stalk interruption syndrome (PSIS) is a rare condition characterized by multiple pituitary hormone deficiencies and a triad of distinctive features on imaging. We report a case of a 2.3-year-old male child who presented with hyponatremic seizures and was subsequently diagnosed with PSIS, identified to have a heterozygous mutation in the roundabout guidance receptor 1 ( ROBO1 ) gene through clinical exome sequencing. This report emphasizes the importance of imaging in cases of hyponatremic seizures and represents the second documented case from India of classical PSIS associated with a novel ROBO1 gene mutation.