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.