A case of ROHHAD (rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation) syndrome in an 11-year-old girl

ABSTRACT

Rapid-onset obesity with hypoventilation, hypothalamic, and autonomic dysregulation (ROHHAD) syndrome is a rare disease characterized by rapid progression of obesity and central hypoventilation with autonomic and endocrine dysregulation. There is no gold-standard diagnostic method for ROHHAD syndrome; it is diagnosed based on a years-long clinical course. For this reason, diagnosis of ROHHAD syndrome is often delayed. In particular, ROHHAD has a high mortality rate due to cardiopulmonary arrest when quick diagnosis and appropriate intervention of central sleep apnea are not timely. We report a case in which an 11-year-old girl with central sleep apnea was diagnosed with ROHHAD syndrome the clinical course with early breathing intervention using noninvasive positive pressure ventilation. We emphasize the importance of respiratory interventions in the clinical course of ROHHAD syndrome.