ESPE Abstracts

Rapid-onset obesity with central hypoventilation, hypothalamic, autonomic dysregulation (ROHHAD) syndrome is a rare disorder characterized by respiratory failure and autonomic dysregulation with endocrine abnormalities. Some of these patients could also present with neuroendocrine tumors (ROHHADNET).

Aim: To evaluate the clinical, biochemical, treatments and outcome in a cohort of pediatrics patients with ROHHAD-NET syndrome follow in a single tertiary center

Subjects and Methods: Retrospective review of 10 medical records of ROHHAD-NET syndrome followed between 2007-2021. Data analyzed were: clinical, biochemical, therapeutic interventions and outcomes.

Results: Rapid onset obesity, identified for all 10 patients, was the first clinical sign (mean age at onset (MAO) 5.28 years). Neurobehavioral disorders were also an early manifestation presenting in 5 cases with a MAO of 5 years. Seven patients had central hypoventilation (MAO 6.8 years) and required BPAP mask ventilation during sleep. One had transient obstructive sleep apnea related to a viral upper airway tract infection, partially corrected by tonsillectomy. All patients had hypothalamic dysfunction: disorders of water balance were the most frequent manifestation (n: 10), followed by hyperprolactinemia (n: 7), central hypothyroidism (n: 5), GH deficiency (n: 5), adrenal insufficiency (n: 2), precocious puberty (n: 2) and hypogonagotrofic hypogonadism (n:2). Autonomic dysregulation was identified in 10 patients, being strabism the main clinical sign (n: 6). Tumors of neural crest origin (ganglioneuromas) were found in 5 patients with a MAO of 5.42 years. The localization were adrenal gland (n: 2) and mediastinum (n: 3). Other clinical findings included thrombocytopenia, celiac disease, enuresis, type 1 and type 2 diabetes, seizures, hypo/hypertension and primary hypothyroidism. Three patients died.

Conclusion: A high clinical suspicion and an early recognition is essential for a prompt diagnosis to provide timely respiratory support and minimize morbidity and mortality. Better characterization and the availability of a large cohort of patients are needed to increase the knowledgement regarding this syndrome and its etiology.