• Ayhan Abaci, Gonul Catli, Erhan Bayram, Tolga Koroglu, Hatice Nur Olgun, Kamer Mutafoglu, Ayse Semra Hiz, Handan Cakmakci, and Ece Bober.
• Pediatric Endocrinology Department, Eylül University Faculty of Medicine, Izmir, Turkey. ayhanabaci@gmail.com
• Endocr Pract. 2013 Jan 1;19(1):e12-6.

ObjectiveRapid-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.MethodsIn 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.ResultsA 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.ConclusionBecause 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.

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