TY - JOUR
T1 - Evolution of physiologic and autonomic phenotype in rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation over a decade from age at diagnosis
AU - Khaytin, Ilya
AU - Stewart, Tracey M.
AU - Zelko, Frank A.
AU - Kee, Mitsu A.L.
AU - Osipoff, Jennifer N.
AU - Slattery, Susan M.
AU - Weese-Mayer, Debra E.
N1 - Publisher Copyright:
© 2022 American Academy of Sleep Medicine.
PY - 2022/3/1
Y1 - 2022/3/1
N2 - 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 cor pulmonale 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. CITATION: 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. J Clin Sleep Med. 2022;18(3):937-944.
AB - 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 cor pulmonale 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. CITATION: 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. J Clin Sleep Med. 2022;18(3):937-944.
KW - ROHHAD
KW - cardiorespiratory arrest
KW - hypoventilation
KW - longitudinal observation
KW - obesity
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U2 - 10.5664/jcsm.9740
DO - 10.5664/jcsm.9740
M3 - Article
C2 - 34694990
AN - SCOPUS:85125551462
VL - 18
SP - 937
EP - 944
JO - Journal of Clinical Sleep Medicine
JF - Journal of Clinical Sleep Medicine
SN - 1550-9389
IS - 3
ER -