PURPOSE OF REVIEW: The 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 FINDINGS: While 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. SUMMARY: The 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.
PURPOSE OF REVIEW: The 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 FINDINGS: While 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. SUMMARY: The 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.
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
Authors: Sarah F Barclay; Casey M Rand; Lisa Nguyen; Richard J A Wilson; Rachel Wevrick; William T Gibson; N Torben Bech-Hansen; Debra E Weese-Mayer Journal: Orphanet J Rare Dis Date: 2018-07-20 Impact factor: 4.123