Allergy Asthma Respir Dis.  2021 Oct;9(4):249-254. 10.4168/aard.2021.9.4.249.

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

• Shin S
• Kim SK
• Jung HI
• Cho SY
• Kim J
• Joo EY
• Ahn K
• Lee BR

• KMID: 2521776
• DOI: http://doi.org/10.4168/aard.2021.9.4.249

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.

Keyword

ROHHAD syndrome; Pediatric obesity; Sleep apnea syndrome; Intermittent positive pressure ventilation