Open AccessROHHAD (Rapid-onset Obesity with Hypoventilation, Hypothalamic Dysfunction, Autonomic Dysregulation) Syndrome—What Every Pediatrician Should Know About the Etiopathogenesis, Diagnosis and Treatment: A Review
Author(s) -
Cecilia Lazea,
Lucia Sur,
Mira Florea
Publication year - 2021
Publication title -
international journal of general medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.722
H-Index - 36
ISSN - 1178-7074
DOI - 10.2147/ijgm.s293377
Subject(s) - medicine , hypoventilation , etiology , obesity , pediatrics , disease , obesity hypoventilation syndrome , endocrine system , hypothalamic disease , intensive care medicine , bioinformatics , respiratory system , hormone , biology , hypogonadotropic hypogonadism
Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation (ROHHAD) syndrome is a rare disease with unknown and debated etiology, characterized by precipitous obesity in young children, hypoventilation and autonomic dysregulation with various endocrine abnormalities. Neuroendocrine tumors can be associated in more than half of the cases. This rare condition has a severe outcome because of high morbidity and mortality. We provide a comprehensive description of the etiopathogenetic theories of the disease, clinical presentation, diagnostic workup and treatment possibilities.