Rapid Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, And Autonomic Dysregulation(Rohhad) In Children: A Saudi Perspective

Background Patients with ROHHAD are usually reported to be healthy prior to a characteristic rapid weight gain associated with autonomic and hypothalamic dysfunction and fatal central hypoventilation in the absence of mutations in the paired-like homeobox 2B (PHOX2B) gene. To our knowledge, this is the first case series report of ROHAAD syndrome from Saudi Arabia comprising four children with different clinical manifestations. Aims and Objectives To establish diagnostic pathway for patients with ROHHAD in Saudi Arabia To establish services suited to the needs of this population To educate physicians about early recognition, referral to expert service and instigate prompt management pathway. Methods This was a prospective analysis of cases referred from all over Saudi Arabia to our center. The patients were picked up by our sleep service and evaluated by our inpatient and outpatient’s department. Results Conclusions Early recognition by the clinician of a child with rapid, dramatic weight gain and investigations for hypothalamic dysfunction, hypo-ventilation, autonomic dysfunction and tumours of neural crest origin are critical in achieving a diagnosis of ROHHAD syndrome; however, this is complicated by the overlap with other well-characterised disease entities. Multidisciplinary care with input from a centre with expertise in ROHHAD is crucial to the successful management of these patients. Mortality associated with the high incidence of cardiopulmonary arrest may be prevented by early ventilatory support. References Ize-Ludlow DI, Gray JA, et al. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. Pediatrics 2007;120:e179–88. Rand CM, Patwari PP, Rodikova, et al. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes. Pediatr Res. 2011; 70:375–8. Bougneres P, Pantalone L, et al. Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neural tumor syndrome. J Clin Endocrinol Metab. 2008; 93:3971–80.