Laparoscopic Treatment of Severe Gastroesophageal Reflux Disease (GERD) in Schaaf-Yang Syndrome: First Report of Toupet Fundoplication.

Schaaf-Yang syndrome (SYS) is a rare genetic disorder marked by hypotonia, developmental delay, and feeding difficulties, including gastroesophageal reflux disease (GERD). We report the case of a 3-year-old boy with SYS who developed severe GERD and weight loss unresponsive to medical therapy. He underwent laparoscopic Toupet fundoplication with gastrostomy placement, resulting in complete symptom resolution and significant weight gain at one-year follow-up. To our knowledge, this is the first published report of Toupet fundoplication in a patient with SYS, highlighting its potential as a safe and effective surgical option for GERD management in this rare population.