Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a syndrome so aptly named for the characteristic manifestations found in patients. This rare syndrome tends to appear in pediatric populations after the age of three. Initially, most patients experience a dramatic weight gain, such as 40 pounds within six months, followed by central hypoventilation. Patients can present with a myriad of severe symptoms, which carry a high mortality rate. There have been less than 100 cases confirmed in the past 50 years and the disease process and potential treatments are still not well established. A 3-year-old male presented as a transfer from an outside facility to the Emergency Department (ED) for lethargy and breathing difficulty. The previous night, the patient appeared in his usual state of health, with no presenting symptoms. In the Emergency Department, the patient had increased work of breathing, tachypnea, tachycardia, fever and hypoxemia with room air SpO2 in the mid 80’s. Initial labs showed elevated brain natriuretic peptide, troponin, leukocytes, and transaminases. The patient showed sinus tachycardia on EKG and bilateral atelectatic changes on chest X-ray. Antibiotics were initiated for suspected pneumonia. Further testing revealed elevated LDL, hemoglobin A1C, prolactin and leptin and a delayed bone age. Additionally, the patient was found to have severe obstructive sleep apnea, hypoventilation, with an elevated apnea-hypopnea index (AHI), even on bilevel positive airway pressure (BiPAP). Seven months before hospital admission, the patient had a rapid weight gain of over 50 pounds in six months. His mother had described the patient’s “limitless” appetite during this time with no change in his well-maintained, balanced diet. He also had a developmental speech delay and extensive history of infection. Throughout admission, venous blood gas measurements were consistent with chronic compensated respiratory acidosis with carbon dioxide tension exceeding 80 mmHg, especially in the morning. Patient was discharged in stable condition with instructions to use BiPAP during sleep. Four weeks after discharge following the onset of upper respiratory infections symptoms, the patient was found unresponsive at home. He later expired in the hospital despite medical intervention. This case exemplifies the complex nature and rapid progression of ROHHAD syndrome. Among the literature, there have been differences of presentation that make the diagnosis and treatment challenging. Although recent research suggests ROHHAD is an immune-mediated process of the central nervous system, there has yet to be a consistent etiology or genetic abnormality linking the few cases of this syndrome. Therefore, this case serves as an important resource for improving clinical diagnosis and determining effective treatment for children with this rare disease.
Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD) in a 3-year-old boy: A case report
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Eric Emery, Kamakshya Patra, Nicholas Mains, Richard W. Brant, Viral Kothari, Brian Ely; Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD) in a 3-year-old boy: A case report. Pediatrics August 2019; 144 (2_MeetingAbstract): 213. 10.1542/peds.144.2MA3.213
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