OBJECTIVE: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is a rare disorder that mimics both common obesity and genetic obesity syndromes along with several endocrine disorders during early childhood. We aim to present the clinical features, laboratory and imaging results, and treatment outcomes of a patient with ROHHAD syndrome. METHODS: In this case report, we describe a 26-month-old boy who was admitted to our emergency department with dyspnea and cyanosis and was suspected to have ROHHAD syndrome due to his rapid-onset obesity and alveolar hypoventilation. RESULTS: A thoracal and abdominal magnetic resonance imaging was performed to demonstrate a possible accompanying neural crest tumor and it provided a yet asymptomatic retroperitoneal ganglioneuroblastoma. Based on these findings, the patient was diagnosed as ROHHADNET syndrome. CONCLUSION: Because of the high prevalence of cardiorespiratory arrest and probability of accompanying tumors, early recognition of ROHHAD syndrome is important. To prevent presumptive mortality and morbidity, ROHHAD syndrome should be considered in all cases of rapid and early-onset obesity associated with hypothalamic-pituitary endocrine dysfunctions.
OBJECTIVE: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is a rare disorder that mimics both common obesity and genetic obesity syndromes along with several endocrine disorders during early childhood. We aim to present the clinical features, laboratory and imaging results, and treatment outcomes of a patient with ROHHAD syndrome. METHODS: In this case report, we describe a 26-month-old boy who was admitted to our emergency department with dyspnea and cyanosis and was suspected to have ROHHAD syndrome due to his rapid-onset obesity and alveolar hypoventilation. RESULTS: A thoracal and abdominal magnetic resonance imaging was performed to demonstrate a possible accompanying neural crest tumor and it provided a yet asymptomatic retroperitoneal ganglioneuroblastoma. Based on these findings, the patient was diagnosed as ROHHADNET syndrome. CONCLUSION: Because of the high prevalence of cardiorespiratory arrest and probability of accompanying tumors, early recognition of ROHHAD syndrome is important. To prevent presumptive mortality and morbidity, ROHHAD syndrome should be considered in all cases of rapid and early-onset obesity associated with hypothalamic-pituitary endocrine dysfunctions.
Authors: Vidhu V Thaker; Kristyn M Esteves; Meghan C Towne; Catherine A Brownstein; Philip M James; Laura Crowley; Joel N Hirschhorn; Sarah H Elsea; Alan H Beggs; Jonathan Picker; Pankaj B Agrawal Journal: J Clin Endocrinol Metab Date: 2015-03-17 Impact factor: 5.958
Authors: Junne Kamihara; Franck Bourdeaut; William D Foulkes; Jan J Molenaar; Yaël P Mossé; Akira Nakagawara; Andreu Parareda; Sarah R Scollon; Kami Wolfe Schneider; Alison H Skalet; Lisa J States; Michael F Walsh; Lisa R Diller; Garrett M Brodeur Journal: Clin Cancer Res Date: 2017-07-01 Impact factor: 12.531
Authors: Lisa A Jacobson; Shruti Rane; Lisa J McReynolds; Diana A Steppan; Allen R Chen; Ido Paz-Priel Journal: Pediatrics Date: 2016-06-16 Impact factor: 7.124
Authors: Jiwon M Lee; Jaewon Shin; Sol Kim; Heon Yung Gee; Joon Suk Lee; Do Hyeon Cha; John Hoon Rim; Se-Jin Park; Ji Hong Kim; Ahmet Uçar; Andreas Kronbichler; Keum Hwa Lee; Jae Il Shin Journal: Biomed Res Int Date: 2018-11-21 Impact factor: 3.411