SAT-LB016 Diabetes and Non-Alcoholic Fatty Liver Disease in Two Patients with ROHHAD Syndrome

ROHHAD Syndrome is a rare disorder characterized by rapid-onset obesity, hypoventilation, hypothalamic and autonomic dysfunction in previously normally developing children. Patients often develop multiple pituitary hormone abnormalities. Metabolic complications of obesity have not been previously reported. Case 1 presented at 3 y 9 mo with respiratory arrest during a nap. He was diagnosed with central hypoventilation and became tracheostomy and ventilator dependent. At initial presentation, he had hyperprolactinemia. He subsequently developed central diabetes insipidus (5 y 3 mo) and central hypothyroidism (6 y 1 mo). Between 24 mo of age and presentation, he gained 8.5 kg resulting in BMI 29.2 kg/m2 (99%) at initial presentation. He continued to have excessive weight gain despite caloric restriction. He developed persistent ALT elevation beginning at 5 y 2 mo. He was diagnosed with fatty liver disease after negative testing for other causes of chronic hepatitis. Abdominal US at 10 y 10 mo showed hepatomegaly and increased echogenicity consistent with hepatic steatosis. At age 11 y, he was diagnosed with diabetes mellitus on routine screening labs with a random blood glucose of 428 mg/dl and HbA1c 9.9%. Diabetes auto-antibodies were negative (insulin, GAD-65, and ICA512). He was treated with insulin. He passed away at 12 y 9 mo due after redirection of care due to worsening respiratory failure. Case 2 presented at 4 y 7 mo with ataxia and altered mental status and was found to be hypernatremic (Na 190 mmol/l). He underwent slow rehydration. Urine was initially concentrated but became dilute after partial rehydration. He was noted to have central hypothyroidism, elevated ALT, and a pelvic ganglioneuroblastoma which was resected. Initial sleep study showed mild obstructive sleep apnea. No growth records were available. BMI at presentation was 25.5 kg/m2 (99%) and he continued to have weight gain. He subsequently developed nocturnal hypoxia due to central and obstructive sleep apnea (7 y 4 mo) and secondary adrenal insufficiency (10 y 2 mo). He was noted to have an elevated HbA1c of 6.3% with negative diabetes auto-antibodies at 7 y 4 mo. Metformin was added at 8 y 8 mo due to fasting hyperglycemia (180-250 mg/dl) on home monitoring. His highest HbA1c was 6.9%. He had persistently elevated transaminases with negative chronic hepatitis evaluation. Liver biopsy at 9 y 4 mo showed micronodular cirrhosis with focal macrosteatosis. He developed portal hypertension, hypersplenism, and gastric/esophageal varices. He passed away at 12 y 1 mo due to complications from gastro-esophageal bleeding. During his final ICU admission, he required an insulin drip for glycemic management. Conclusions: We report two cases of type 2 diabetes and non-alcoholic fatty liver disease in patients with ROHHAD syndrome. Monitoring in ROHHAD should include screening for obesity complications. Unless otherwise noted, all abstracts presented at ENDO are embargoed until the date and time of presentation. For oral presentations, the abstracts are embargoed until the session begins. Abstracts presented at a news conference are embargoed until the date and time of the news conference. The Endocrine Society reserves the right to lift the embargo on specific abstracts that are selected for promotion prior to or during ENDO.