Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) syndrome: two case reports

Background: Rapid-onset Obesity with Hypothalamic Dysfunction , Hypoventilation, and Autonomic Dysregulation (ROHHAD) is a rare and complex pediatric disorder . Children typically show ROHHAD after the first years of life with rapid weight gain as the initial sign. Subsequently they develop autonomic nervous system dysregulation including altered pain perception, pupillary dysfunction, hypothermia and profound bradycardia; alveolar hypoventilation with risk of cardiorespiratory arrest and hypothalamic dysfunction (central diabetes insipidus, hypothyroidism, growth hormone and/or corticotrophin deficiency). Tumours of neural crest origin, such as ganglioneuroblastoma and ganglioneuronoma, are also reported in 33% of the patients and may be found in the chest and/or abdomen. Case reports: Here we describe two girls who presented with rapid weight gain, at the age of 5 and 11 years respectively. The first girl was admitted due to obesity and hypothyroidism. After two months she rapidly developed a clinical picture characterized by thermal dysregulation, hypodipsia and severe hypernatriemia, hypertrigliceridemia, alveolar hypoventilation that was supported by mechanical ventilation. The second girl presented with rapid-onset obesity and a mild hyperprolactinemia. After three months of follow-up she was admitted to our Emergency Unit due to a clinical picture of severe hypothermia, seizures and hyponatremia. Subsequentely she developed altered water balance, presenting as severe hypernatremia and severe hypoventilation . Chest CT and MR imaging showed a posterior mediastinal mass that measured approximately 4,5 x 2 cm . Endocrinological investigation showed corticotrophin deficiency and central hypothyroidism that were treated with specific therapies. Conclusions: On the basis of our experiences we can infer that: 1) it is necessary to identify all the children with rapid onset obesity in order to early prevent the catastrophic consequences that may occur ; 2) a vigilant screening for tumours of neural crest origin should also be a part of ongoing care for children with ROHHAD.