A case of ROHHAD (rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation) syndrome in an 11-year-old girl
10.4168/aard.2021.9.4.249
- Author:
Sanghee SHIN
1
;
Su Kyung KIM
;
Hye-In JUNG
;
Sung Yoon CHO
;
Jihyun KIM
;
Eun Yeon JOO
;
Kangmo AHN
;
Bo Ra LEE
Author Information
1. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
- Publication Type:CASE REPORT
- From:Allergy, Asthma & Respiratory Disease
2021;9(4):249-254
- CountryRepublic of Korea
- Language:English
-
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.
