Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumor syndrome with a homogenous enlargement of the pituitary gland: a case report

Abstract

BackgroundRapid-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.Case presentationWe 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.ConclusionsThe 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.

ROHHAD (Rapid-onset Obesity with Hypoventilation, Hypothalamic Dysfunction, Autonomic Dysregulation) Syndrome—What Every Pediatrician Should Know About the Etiopathogenesis, Diagnosis and Treatment: A Review

“…Enlargement of the pituitary gland and generalized brain atrophy were also reported. 4 , 5 , 34 , 35 …”

“… Note: Data from these studies. 4 , 5 , 32 , 35 , 38 Abbreviations: EEG, electroencephalography; IGF-1, insulin-like growth factor 1; MIGB I 123 , metaiodobenzylguanidine iodine 123 ; MRI, magnetic resonance imaging. …”

ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison

“… Hypoventilation Yes Universal and severe - All ROHHAD patients eventually require, at a minimum, artificial ventilation during sleep, with as many as half requiring ventilation 24 h per day. If adequate ventilatory support is not provided, many ROHHAD patients suffer a cardiorespiratory arrest [ 1 , 4 , 5 , 20 – 25 ] . Sometimes Not universal, though at times severe, with some instances of cardiorespiratory arrest reported [ 33 , 34 ] .…”

“… Maladaptive behavior (impulsive, compulsive, manipulative) Sometimes It has been our experience that most ROHHAD patients, as long as their hypoventilation has been adequately managed, have no disordered behavior. However, there are case reports of severe behavioral issues including anxiety, depression, rage, aggressiveness, psychosis, and obsessive compulsive disorder [ 1 , 23 , 25 , 35 – 37 ] . It has been hypothesized however, that these issues occur only after inadequate oxygenation due to undiagnosed or improperly managed hypoventilation, since these symptoms are not seen in patients who were diagnosed early and managed conservatively, and have not experienced a frank cardiopulmonary arrest [ 8 ] Yes There is a characteristic disordered behavioral pattern among PWS patients that includes temper tantrums, stubbornness, rigidity, compulsiveness, and controlling or manipulative behaviors.…”

“…All ROHHAD patients eventually require at a minimum artificial ventilation during sleep, with as many as half requiring support 24 h per day [ 1 ]. If adequate ventilatory support is not provided, many ROHHAD patients suffer a cardiorespiratory arrest [ 1 , 4 , 5 , 20 – 25 ]. This severe hypoventilation is not always present at initial diagnosis but may only appear later, usually between 3 and 7 years of age [ 1 , 20 ].…”