ESPE Abstracts

Background: ROHHADNET syndrome is characterised by rapid onset childhood obesity, hypoventilation, variable hypothalamic-pituitary and autonomic dysfunction, and neuroendocrine tumors in 30–40%. Autoimmunity and paraneoplastic syndrome have been proposed as possible pathophysiological mechanisms, but the exact aetiology remains unclear.

Objective and hypotheses: We present the clinical course of ROHHADNET syndrome in a 17-year-old girl, with consecutive symptoms indicated in her growth chart.

Method: Case report.

Results: At the age of 4 years, the girl presented with rapid weight gain and a decline in linear growth. IGF1 was low, but low GH concentrations in stim tests were judged as false positive, secondary to obesity. In subsequent years, she was diagnosed with central hypothyroidism and diabetes insipidus, initially with normal adrenal axis functioning. Because of persisting low IGF1, GH treatment was started at the age of 10 years, after which impressive weight loss occurred. Shortly thereafter, low dose hydrocortisone treatment was started because of presumed ACTH deficiency, after which she regained 15 kg of weight. Discontinuation of hydrocortisone resulted in weight loss, but an Addisonian crisis at the age of 15 years necessitated restarting low dose hydrocortisone treatment with concurrent weight gain. 3 years after the accidental finding of a chest ganglioneuroma, ROHHADNET was suspected and severe central hypoventilation was discovered.

Conclusion: Because of the still unknown aetiology of this orphan disorder, detailed case descriptions can be helpful in unravelling the pathophysiology and maybe the aetiology of ROHHADNET syndrome. This case report learns that low IGF1 concentrations should trigger towards the diagnosis of growth hormone deficiency in obese patients. Furthermore, neuroendocrine tumors in combination with hypothalamic-pituitary dysfunction should lead directly towards the syndrome diagnosis. Lastly, this girl seemed to exhibit greatly increased cortisol sensitivity, resulting in extreme weight changes. This new observation may be a clue to the cause of obesity in ROHHADNET syndrome.