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

Ilya Khaytin*, Tracey M. Stewart, Frank A. Zelko, Mitsu A.L. Kee, Jennifer N. Osipoff, Susan M. Slattery, Debra E. Weese-Mayer

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

6 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)937-944
Number of pages8
JournalJournal of Clinical Sleep Medicine
Volume18
Issue number3
DOIs
StatePublished - Mar 2022

Funding

All authors have seen and approved this manuscript. Work for this study was performed at the Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, Illinois. This study was funded by ROHHAD Fight Inc. and ROHHAD Association. The authors report no conflicts of interest.

Keywords

  • ROHHAD
  • cardiorespiratory arrest
  • hypoventilation
  • longitudinal observation
  • obesity

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Pulmonary and Respiratory Medicine

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