Abstract #1408090: A Case of Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation in a 5-Year-Old Boy

Abstract

With an estimated prevalence of less than 1000 in the U.S, rapid onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is an exceedingly rare but fatal syndrome that surfaces abruptly in previously healthy infants or children aged 1 month-11 years. Due to the wide range of symptom variability, onset, and obscure documentation, it is often overlooked and misdiagnosed by clinicians, leading to inadequate treatment and consequent early mortality secondary to cardio-pulmonary arrest. The etiology is currently unknown, though some sources and clinical trials have postulated an underlying autoimmune mechanism directed at the brain. We aim to present a potential inciting event in addition to a promising treatment response for ROHHAD syndrome in this case study. This case describes a 5-year-old male who presents to the pediatrician with a chief complaint of 2 years rapid, incessant weight gain and fatigue following an adenoviral infection at 3 years of age. He had previously been evaluated at numerous specialists with preliminary diagnoses of hypothyroidism and diabetes insipidus, despite inconsistent response to dietary restrictions, exercise and levothyroxine therapy. Diagnosis of ROHHAD syndrome was finally confirmed with a sleep study that revealed severe obstructive sleep apnea (OSA). After continuous positive airway pressure (CPAP) intervention, the patient has reported stable weight maintenance as well as significant improvement in energy levels. The diagnosis of ROHHAD syndrome is often missed due to the many physiological processes affected. Subsequent involvement of many specialists creates focus on the individual endocrine abnormalities and often results in nominal clinical improvement. The presentation of rapid onset obesity in a child between the ages of 1 month to 11 years with concurrent widespread endocrine abnormalities such as hypothyroidism, short stature, puberty delay, hyperprolactinemia and overlying sleep apnea should raise suspicion and place ROHHAD syndrome in the differential. Positive sleep study results complete the clinical picture and indicate the need for CPAP, which in this case has shown to significantly slow weight gain and improve energy levels. Early intervention with CPAP may even help slow the onset of cardiopulmonary abnormalities and increase patient survival. It is critical to establish a multidisciplinary team only after the syndrome is clinically confirmed that may include a primary care physician, endocrinologist, pulmonologist, and many more, working coherently to optimize care and patient quality of life. Patients with a confirmed diagnosis may also benefit from referral to a center with expertise in ROHHAD syndrome, such as Ann and Robert H. Lurie Children’s Hospital of Chicago. More research is needed to determine whether adenovirus may contribute to a potential autoimmune mechanism that triggers the onset of ROHHAD syndrome in susceptible individuals.