title: Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumor syndrome with a homogenous enlargement of the pituitary gland: a case report.
abstract: BACKGROUND
  Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome is a rare pediatric disorder with a variable sequence of clinical presentations, undefined etiology, and high risk of mortality. Our patient presented an unusual course of the disease accompanied by a homogenous mild enlargement of her pituitary gland with an intact pituitary-endocrine axis which, to the best of our knowledge, represents a new finding in rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome.
  
  
  METHODS
  We present a documented case of a 4 years and 8-month-old Syrian Arabic girl with a distinctive course of signs and symptoms of rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome accompanied by mature ganglioneuroma in her chest, a homogenous mild enlargement of her pituitary gland, generalized cortical brain atrophy, and seizures. Three months after her first marked symptoms were noted she had a sudden progression of severe respiratory distress that ended with her death.
  
  
  CONCLUSIONS
  The findings of this case could increase our understanding of the pathogenetic mechanisms of rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation, and place more emphases on pediatricians to consider rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome whenever early rapid onset of obesity, associated with any malfunction, is observed in children. This knowledge could be lifesaving for children with rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome.
authors.affiliation: Genetic Diseases Unit, Pediatric Department, Faculty of Medicine, Damascus University, Damascus, Syrian Arab Republic. lamajabban@hotmail.com.|Genetic Diseases Unit, Damascus University Children Hospital, Almouasa Square, Almazzeh, Damascus, Syrian Arab Republic. lamajabban@hotmail.com.
authors.forename: Lama
authors.identifier: http://orcid.org/0000-0002-6669-7539
authors.initials: L
authors.lastname: Aljabban
authors.affiliation: Pediatric Department, Faculty of Medicine, Damascus University, Damascus, Syrian Arab Republic.
authors.forename: Lina
authors.initials: L
authors.lastname: Kassab
authors.affiliation: Pediatric Department, Faculty of Medicine, Damascus University, Damascus, Syrian Arab Republic.
authors.forename: Nour Alhuda
authors.initials: NA
authors.lastname: Bakoura
authors.affiliation: Faculty of Medicine, Damascus University, Damascus, Syrian Arab Republic.
authors.forename: Mohammad Fayez
authors.initials: MF
authors.lastname: Alsalka
authors.affiliation: Pediatric Department, Faculty of Medicine, Damascus University, Damascus, Syrian Arab Republic.
authors.forename: Ismaeil
authors.initials: I
authors.lastname: Maksoud
mesh_terms: D002675:Child, Preschool; D017809:Fatal Outcome; D005260:Female; D005729:Ganglioneuroma / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D007040:Hypoventilation; D018358:Neuroendocrine Tumors / Q000000981:diagnostic imaging* / Q000473:pathology; D010845:Obesity Hypoventilation Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology
keywords: Case report; Ganglioneuroma; Hypothalamic dysfunction; Obesity; Pituitary gland; ROHHAD