• Pallavi P Patwari and Lisa F Wolfe.
• Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.
• Curr. Opin. Pediatr. 2014 Aug 1; 26 (4): 487-92.

Purpose Of ReviewThe focus of this review is to compare and contrast two orphan disorders of late-onset hypoventilation. Specifically, rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) and congenital central hypoventilation syndrome (CCHS) are distinct in presentation, pathophysiology, and etiology.Recent FindingsWhile limited new information is available, appreciation and understanding of rare disorders can be attained through case reports. Recent literature in ROHHAD has included case reports with new findings that may provide insight into pathophysiology involving possible aberrant immune process and dysregulation at the level of the orexinergic system.SummaryThe etiology of ROHHAD continues to be elusive. The hope is that, with growing recognition, discussion, and investigation into the overlap of ROHHAD with disorders outside congenital central hypoventilation syndrome, further advancement will be made.

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