Endocrine Abstracts

Introduction: ROHHADNET syndrome is a newly described condition characterized by rapid-onset obesity, pulmonary hypoventilation, hythalamic, autonomic dysregulation and, neural tumors. The severity of the clinical manifestations can rapidly lead to death by cardiorespiratory arrest.

Case report: We present the case of a 5.10 years old girl, who was admitted in the Endocrinology department for evaluation of a significant weight gain began 2.5 years ago.

Clinical examination releaved morbid obesity with facio-troncular distribution, height=123 cm (+2.5 SD Prader), weight =49.5 kg (+7.5 SD Prader), acrocyanosis, eyelid and, legs edema. The biochemical and hormonal profile releved increased natremia and transaminases, hypokalemia, increased urinary free cortizol with adequate suppression at Bricaire test, increased value for ACTH, TSH and prolactin. MRI exam at hypothalamic-pituitary and abdomen level showed a suggestive image for pituitary microadenoma.

Based on the clinical and laboratory investigations the possible diagnosis of ROHHADNET syndrome. The treatment followed correction of overweight and biochemical and hormonal changed parameters. At the age of 6 years and one month the patient died from renal failure and cardiopulmonary arrest.

Conclusions: Frequent associations of hypothalamicpituitary endocrine dysfunction creates real difficulty in diagnosis of ROHHADNET syndrome. This case illustrates the importance of complex endocrine evaluation and multidisciplinary approach to all forms of obesity with early onset and rapid evolution in order to establish the correct diagnosis and appropriate treatment.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.