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KMID : 1035620210090040249
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Allergy Asthma & Respiratory Disease
2021 Volume.9 No. 4 p.249 ~ p.254
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A case of ROHHAD (rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation) syndrome in an 11-year-old girl
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Shin Sang-Hee
Kim Su-Kyung
Jung Hye-In
Cho Sung-Yoon
Kim Ji-Hyun
Joo Eun-Yeon
Ahn Kang-Mo
Lee Bo-Ra
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Abstract
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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.
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KEYWORD
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ROHHAD syndrome, Pediatric obesity, Sleep apnea syndrome, Intermittent positive pressure ventilation
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