Evolution of physiologic and autonomic phenotype in rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation over a decade from age at diagnosis

• Published in: Journal of clinical sleep medicine Vol. 18; no. 3; pp. 937 - 944
• Main Authors: Khaytin, Ilya, Stewart, Tracey M, Zelko, Frank A, Kee, Mitsu A L, Osipoff, Jennifer N, Slattery, Susan M, Weese-Mayer, Debra E
• Format: Journal Article
• Language: English
• Published: United States American Academy of Sleep Medicine 01.03.2022
• Subjects: Autonomic Nervous System Diseases - complications; Autonomic Nervous System Diseases - diagnosis; Case Reports; Humans; Hypothalamic Diseases - complications; Hypothalamic Diseases - diagnosis; Hypothalamic Diseases - genetics; Hypoventilation - genetics; Obesity - complications; Obesity - diagnosis; Phenotype; longitudinal observation; ROHHAD; hypoventilation; obesity; cardiorespiratory arrest
• ISSN: 1550-9389; 1550-9397
• DOI: 10.5664/jcsm.9740

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare cause of syndromic obesity with risk of cardiorespiratory arrest and neural crest tumor. No ROHHAD-specific genetic test exists at present. Rapid weight gain of 20-30 pounds, typically between ages 2-7 years in an otherwise healthy child, followed by multiple endocrine abnormalities herald the ROHHAD phenotype. Vigilant monitoring for asleep hypoventilation (and later awake) is mandatory as hypoventilation and altered control of breathing can emerge rapidly, necessitating artificial ventilation as life support. Recurrent hypoxemia may lead to and/or right ventricular hypertrophy. Autonomic dysregulation is variably manifest. Here we describe the disease onset with "unfolding" of the phenotype in a child with ROHHAD, demonstrating the presentation complexity, need for a well-synchronized team approach, and optimized management that led to notable improvement ("refolding") in many aspects of the child's ROHHAD phenotype over 10 years of care. Khaytin I, Stewart TM, Zelko FA, et al. Evolution of physiologic and autonomic phenotype in rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation over a decade from age at diagnosis. . 2022;18(3):937-944.