Introduction: Rapid-onset Obesity with Hypoventilation, Hypothalamic dysfunction and Autonomic Dysregulation (ROHHAD) recently named ROHHAD-NeuroEndocrine Tumors (ROHHAD-NET) syndrome is a rare cause of obesity in children. The diagnosis is challenging and can easily be confused with other causes of obesity.
Case Report: We report a case of a six-year-old boy, referred to our clinic for hypernatremia. Six months ago, he started to present episodes of acute respiratory distress diagnosed as asthma. A Few months later and following acute respiratory distress, he was admitted for coma due to a severe hypernatremia reaching 200 meq/l complicated by renal failure. He was successfully managed and left the intensive care unit with a normal electrolyte balance and a normal renal function. Parents reported progressive weight gain without polyphagia and physical examination showed obesity with a BMI of 23 (> 97thcentile), normal height, respiratory distress, excessive sweating and Raynaud Phenomenon. The child had normal intellectual development with good school performance and no psychiatric disorders. ROHHAD-NET Syndrome was suspected and further investigations showed Hyperprolactinemia: 91.4 ng/ml (3.7-17.9), megaloblastic anaemia, obstructive sleep apnoea and a restrictive alveolar syndrome. No pituitary deficiency was detected and thoraco-abdominal CT Scan showed calcifications in the right adrenal which was slightly enlarged. Vanyl Mandelic Acid was normal 3.98µmol/mmol (N<10) as well as adrenal steroids: SDHEA: 0.28µg/ml (0.24-2.1); Δ4 Androstenedione: 0.3 ng/ml (0.01-1.31); testosterone<0.05 ng/ml (0.39-2.01). Ganglioneuroma is suspected for which further investigations are being done. Fluid balance is well controlled with oral hydration and low sodium diet. Obesity is managed by dietary changes alone since exercising remains limited by the respiratory distress episodes.
Conclusion: Our patient's management requires a multidisciplinary team collaboration and his prognosis relies on the severe hypernatremia episodes, the sleep apnoea disorder and the development of neuroendocrine tumours.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology